Compendium of Cancer Genome Aberrations

HAEM5:Monoclonal immunoglobulin deposition disease: Difference between revisions

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<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Light Chain and Heavy Chain Deposition Disease]].
<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Light Chain and Heavy Chain Deposition Disease]].
}}</blockquote>
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<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click within the table and select the > symbol that appears to be given options. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>
<span style="color:#0070C0">(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)</span>


==Primary Author(s)*==
==Primary Author(s)*==


Chen Yang, MD, PhD, University of Michigan
Chen Yang, MD, PhD, University of Michigan
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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==Definition / Description of Disease==
==Related Terminology==
Light Chain and Heavy Chain Deposition Disease is defined as follows<ref>McKenna RW, et al., (2017). Plasma cell neoplasms: Light chain and heavy chain deposition diseases, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p255-256.</ref><ref>{{Cite journal|last=Sethi|first=Sanjeev|last2=Rajkumar|first2=S. Vincent|last3=D'Agati|first3=Vivette D.|date=2018-07|title=The Complexity and Heterogeneity of Monoclonal Immunoglobulin-Associated Renal Diseases|url=https://pubmed.ncbi.nlm.nih.gov/29703839|journal=Journal of the American Society of Nephrology: JASN|volume=29|issue=7|pages=1810–1823|doi=10.1681/ASN.2017121319|issn=1533-3450|pmc=6050917|pmid=29703839}}</ref><ref>{{Cite journal|last=Leung|first=Nelson|last2=Bridoux|first2=Frank|last3=Batuman|first3=Vecihi|last4=Chaidos|first4=Aristeidis|last5=Cockwell|first5=Paul|last6=D'Agati|first6=Vivette D.|last7=Dispenzieri|first7=Angela|last8=Fervenza|first8=Fernando C.|last9=Fermand|first9=Jean-Paul|date=2019-01|title=The evaluation of monoclonal gammopathy of renal significance: a consensus report of the International Kidney and Monoclonal Gammopathy Research Group|url=https://pubmed.ncbi.nlm.nih.gov/30510265|journal=Nature Reviews. Nephrology|volume=15|issue=1|pages=45–59|doi=10.1038/s41581-018-0077-4|issn=1759-507X|pmc=7136169|pmid=30510265}}</ref><ref>{{Cite journal|last=Leung|first=Nelson|last2=Bridoux|first2=Frank|last3=Nasr|first3=Samih H.|date=2021-05-20|title=Monoclonal Gammopathy of Renal Significance|url=https://pubmed.ncbi.nlm.nih.gov/34010532|journal=The New England Journal of Medicine|volume=384|issue=20|pages=1931–1941|doi=10.1056/NEJMra1810907|issn=1533-4406|pmid=34010532}}</ref>:
 
*Systemic disorder with non-amyloid deposits of monoclonal immunoglobulin (Ig) in various organs
*Underlying diseases are [[HAEM4:Plasma Cell Neoplasms]] (PCN, >95%) or lymphoplasmacytic neoplasms (2-3%)
*20-35% have non-smoldering [[HAEM5:Plasma cell myeloma / multiple myeloma]] (PCM), and rest (65-75%) have smoldering plasma cell myeloma or Monoclonal Gammopathy of Uncertain Significance (MGUS)/monoclonal gammopathy of renal significance (MGRS)
 
==Synonyms / Terminology==
 
*Randall type monoclonal immunoglobulin deposition disease
*Light chain deposition disease (LCDD)
*heavy chain deposition disease (HCDD)
*light and heavy chain deposition disease (LHCDD)
 
==Epidemiology / Prevalence==
The following epidemiologic features have been observed<ref name=":0">{{Cite journal|last=Pozzi|first=Claudio|last2=D'Amico|first2=Marco|last3=Fogazzi|first3=Giovanni B.|last4=Curioni|first4=Simona|last5=Ferrario|first5=Franco|last6=Pasquali|first6=Sonia|last7=Quattrocchio|first7=Giacomo|last8=Rollino|first8=Cristiana|last9=Segagni|first9=Siro|date=2003-12|title=Light chain deposition disease with renal involvement: clinical characteristics and prognostic factors|url=https://pubmed.ncbi.nlm.nih.gov/14655186|journal=American Journal of Kidney Diseases: The Official Journal of the National Kidney Foundation|volume=42|issue=6|pages=1154–1163|doi=10.1053/j.ajkd.2003.08.040|issn=1523-6838|pmid=14655186}}</ref><ref name=":2">{{Cite journal|last=Nasr|first=Samih H.|last2=Valeri|first2=Anthony M.|last3=Cornell|first3=Lynn D.|last4=Fidler|first4=Mary E.|last5=Sethi|first5=Sanjeev|last6=D'Agati|first6=Vivette D.|last7=Leung|first7=Nelson|date=2012-02|title=Renal monoclonal immunoglobulin deposition disease: a report of 64 patients from a single institution|url=https://pubmed.ncbi.nlm.nih.gov/22156754|journal=Clinical journal of the American Society of Nephrology: CJASN|volume=7|issue=2|pages=231–239|doi=10.2215/CJN.08640811|issn=1555-905X|pmid=22156754}}</ref><ref name=":1">{{Cite journal|last=Joly|first=Florent|last2=Cohen|first2=Camille|last3=Javaugue|first3=Vincent|last4=Bender|first4=Sébastien|last5=Belmouaz|first5=Mohamed|last6=Arnulf|first6=Bertrand|last7=Knebelmann|first7=Bertrand|last8=Nouvier|first8=Mathilde|last9=Audard|first9=Vincent|date=2019-02-07|title=Randall-type monoclonal immunoglobulin deposition disease: novel insights from a nationwide cohort study|url=https://pubmed.ncbi.nlm.nih.gov/30578255|journal=Blood|volume=133|issue=6|pages=576–587|doi=10.1182/blood-2018-09-872028|issn=1528-0020|pmid=30578255}}</ref><ref name=":4" />:
 
*Vary rare
*Median age: 56-58 years (range: 20-91)
*60% are men
*No ethnic difference
*Deposited Ig can be light chain (LCDD, ~80%), heavy chain (HCDD, ~10%), or both (LHCDD, ~10%)


==Clinical Features==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|+
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
|Acceptable
 
|Randall-type monoclonal immunoglobulin deposition disease
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
 
<span class="blue-text">EXAMPLE:</span> Fatigue
 
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|-
|'''Laboratory Findings'''
|Not Recommended
|<span class="blue-text">EXAMPLE:</span> Cytopenias
|N/A
 
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
|}


==Gene Rearrangements==


<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}
The following clinical and laboratory findings may be seen<ref name=":0" /><ref name=":2" /><ref name=":1" /><ref name=":4" /><ref name=":3">{{Cite journal|last=Mohan|first=Meera|last2=Buros|first2=Amy|last3=Mathur|first3=Pankaj|last4=Gokden|first4=Neriman|last5=Singh|first5=Manisha|last6=Susanibar|first6=Sandra|last7=Jo Kamimoto|first7=Jorge|last8=Hoque|first8=Shadiqul|last9=Radhakrishnan|first9=Muthukumar|date=2017-08|title=Clinical characteristics and prognostic factors in multiple myeloma patients with light chain deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/28383130|journal=American Journal of Hematology|volume=92|issue=8|pages=739–745|doi=10.1002/ajh.24756|issn=1096-8652|pmid=28383130}}</ref><ref name=":5">{{Cite journal|last=Sayed|first=Rabya H.|last2=Wechalekar|first2=Ashutosh D.|last3=Gilbertson|first3=Janet A.|last4=Bass|first4=Paul|last5=Mahmood|first5=Shameem|last6=Sachchithanantham|first6=Sajitha|last7=Fontana|first7=Marianna|last8=Patel|first8=Ketna|last9=Whelan|first9=Carol J.|date=2015-12-24|title=Natural history and outcome of light chain deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/26392598|journal=Blood|volume=126|issue=26|pages=2805–2810|doi=10.1182/blood-2015-07-658872|issn=1528-0020|pmc=4732758|pmid=26392598}}</ref>:
'''Signs & Symptoms'''
*Organ dysfunction resulting from systemic Ig deposition
*Renal dysfunction (renal insufficiency, proteinuria, hematuria, and hypertension) in almost all cases
*Renal failure eventually without treatment
*Extrarenal symptoms (10-35%) from IG deposition in heart, liver, peripheral nerves, lung, skin, blood vessels, and occasionally joints
*Diastolic heart failure and atrial arrhythmias if heart involved
*Hepatomegaly, portal hypertension and liver failure if liver involved
*Cough, oxygen desaturation and dyspnea if lung involved
*Peripheral and autonomic neuropathy if nerve involved
'''Laboratory findings'''
*Abnormal serum free light chain ratio in almost all cases
*M-protein detected on SPEP in majority (70-85%) cases
*IgG followed by light chain, IgA and IgM, as the most common monoclonal Ig detected in serum
*The tissue immunoglobulin deposits can differ from the monoclonal Ig in serum
*Hypocomplementemia in HCDD, due to complement fixation by IgG3 and IgG1 subclasses
*Septal thickening on echocardiogram if heart involved
*Elevated liver function test results if liver involved
</blockquote>
==Sites of Involvement==
The following anatomic sites of involvement have been reported<ref name=":2" /><ref name=":1" /><ref name=":4" /><ref name=":3" />:
*Kidney is nearly always involved
*Extrarenal organs (heart, liver, peripheral nerves, lung, skin, and blood vessels) involve in 10-35% cases
*Extrarenal involvement is more common in LCDD with PCM
*Basement membranes and elastic and collagen fibers are the prominent deposition sites
==Morphologic Features==
*Most cases are associated with PCM or MGUS<ref name=":0" />, and rarely with [[HAEM5:Lymphoplasmacytic lymphoma]], marginal zone lymphoma, or [[HAEM5:Chronic lymphocytic leukaemia/small lymphocytic lymphoma]]
*The smooth, ribbon-like linear Ig deposits consist of Congo red-negative amorphous eosinophilic material that is non-amyloid and non-fibrillary
*Deposition of Ig is mostly found on renal biopsies but can be observed in bone marrow and other tissues
*The renal biopsy typically (in 2/3 of cases) shows nodular sclerosing glomerulonephritis
*Ig predominantly deposits along tubular basement membranes (TBM) and glomerular basement membranes (GBM) under kidney immunofluorescence stain<ref name=":2" />
==Immunophenotype==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|-
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
|<span class="blue-text">EXAMPLE:</span> Common (CML)
|<span class="blue-text">EXAMPLE:</span> D, P, T
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
|<span class="blue-text">EXAMPLE:</span>
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
|-
|-
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
|<span class="blue-text">EXAMPLE:</span> ''CIC''
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
|<span class="blue-text">EXAMPLE:</span> D
|
|<span class="blue-text">EXAMPLE:</span>
 
''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
|-
|-
|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
|<span class="blue-text">EXAMPLE:</span> ''ALK''
|-
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
|}




<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}
Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
Findings are similar to those of the underlying condition (e.g., [[HAEM4:Plasma Cell Neoplasms|Plasma Cell Neoplasm]], [[HAEM5:Lymphoplasmacytic lymphoma]]).  Additional findings may include the following<ref name=":2" /><ref name=":4" />:
|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
 
|<span class="blue-text">EXAMPLE:</span> N/A
*The plasma cells in bone marrow may exhibit an aberrant kappa/lambda ratio
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
*Kappa light chains, especially VκIV variable region, are overrepresented (68-80%) in LCDD
|<span class="blue-text">EXAMPLE:</span> T
*Gamma chains are most common in HCDD
|
*Deletion of the CH1 constant domain leads to premature secretion and tissue deposition of heavy chain in HCDD
|<span class="blue-text">EXAMPLE:</span>
*Somatic mutations of the variable regions of light chain or heavy chain increase the hydrophobicity and hence the propensity for tissue deposition of Ig
 
</blockquote>
==Chromosomal Rearrangements (Gene Fusions)==
 
Put your text here and fill in the table


{| class="wikitable sortable"
Both balanced and unbalanced forms are observed by FISH (add references).
|-
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
|<span class="blue-text">EXAMPLE:</span> ''ABL1''
!Diagnostic Significance (Yes, No or Unknown)
|<span class="blue-text">EXAMPLE:</span> N/A
!Prognostic Significance (Yes, No or Unknown)
|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.
!Therapeutic Significance (Yes, No or Unknown)
|<span class="blue-text">EXAMPLE:</span> N/A
!Notes
|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|
|-
|-
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
|
|Yes
|
|No
|
|Yes
|
|<span class="blue-text">EXAMPLE:</span>
|
|
|
|}


The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
|}
 
<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}


*There is limited information on the genomic abnormalities of the plasma cells in light chain and heavy chain deposition disease
*There is limited information on the genomic abnormalities of the plasma cells in light chain and heavy chain deposition disease
Line 179: Line 114:
*In one study<ref name=":4">{{Cite journal|last=Kourelis|first=Taxiarchis V.|last2=Nasr|first2=Samih H.|last3=Dispenzieri|first3=Angela|last4=Kumar|first4=Shaji K.|last5=Gertz|first5=Morie A.|last6=Fervenza|first6=Fernando C.|last7=Buadi|first7=Francis K.|last8=Lacy|first8=Martha Q.|last9=Erickson|first9=Stephen B.|date=2016-11|title=Outcomes of patients with renal monoclonal immunoglobulin deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/27501122|journal=American Journal of Hematology|volume=91|issue=11|pages=1123–1128|doi=10.1002/ajh.24528|issn=1096-8652|pmid=27501122}}</ref>, t(11;14)(q13;q32) IGH/CCND1 fusion is detected as the most common fusion (nearly 50%), comparing to only 15-20% in myeloma without Ig deposition
*In one study<ref name=":4">{{Cite journal|last=Kourelis|first=Taxiarchis V.|last2=Nasr|first2=Samih H.|last3=Dispenzieri|first3=Angela|last4=Kumar|first4=Shaji K.|last5=Gertz|first5=Morie A.|last6=Fervenza|first6=Fernando C.|last7=Buadi|first7=Francis K.|last8=Lacy|first8=Martha Q.|last9=Erickson|first9=Stephen B.|date=2016-11|title=Outcomes of patients with renal monoclonal immunoglobulin deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/27501122|journal=American Journal of Hematology|volume=91|issue=11|pages=1123–1128|doi=10.1002/ajh.24528|issn=1096-8652|pmid=27501122}}</ref>, t(11;14)(q13;q32) IGH/CCND1 fusion is detected as the most common fusion (nearly 50%), comparing to only 15-20% in myeloma without Ig deposition


<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</blockquote>




<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
* Chromosomal Rearrangements (Gene Fusions)
* Chromosomal Rearrangements (Gene Fusions)
* Individual Region Genomic Gain/Loss/LOH
* Individual Region Genomic Gain/Loss/LOH
* Characteristic Chromosomal Patterns
* Characteristic Chromosomal Patterns
* Gene Mutations (SNV/INDEL)}}
* Gene Mutations (SNV/INDEL)}}</blockquote>


*Due to limited studies, no genetic abnormalities are prognostic or predictive of treatment response
*Due to limited studies, no genetic abnormalities are prognostic or predictive of treatment response
*FISH detection of the potentially frequent t(11;14) IGH/CCND1 fusion in association with BCL2 overexpression may help guide the application of BCL2 blocking agents including venetoclax<ref>{{Cite journal|last=Szita|first=Virág Réka|last2=Mikala|first2=Gábor|last3=Kozma|first3=András|last4=Fábián|first4=János|last5=Hardi|first5=Apor|last6=Alizadeh|first6=Hussain|last7=Rajnics|first7=Péter|last8=Rejtő|first8=László|last9=Szendrei|first9=Tamás|date=2022|title=Targeted Venetoclax Therapy in t(11;14) Multiple Myeloma: Real World Data From Seven Hungarian Centers|url=https://pubmed.ncbi.nlm.nih.gov/35295611|journal=Pathology oncology research: POR|volume=28|pages=1610276|doi=10.3389/pore.2022.1610276|issn=1532-2807|pmc=8918485|pmid=35295611}}</ref><ref>{{Cite journal|last=Bal|first=Susan|last2=Kumar|first2=Shaji K.|last3=Fonseca|first3=Rafael|last4=Gay|first4=Francesca|last5=Hungria|first5=Vania Tm|last6=Dogan|first6=Ahmet|last7=Costa|first7=Luciano J.|date=2022|title=Multiple myeloma with t(11;14): unique biology and evolving landscape|url=https://pubmed.ncbi.nlm.nih.gov/35968339|journal=American Journal of Cancer Research|volume=12|issue=7|pages=2950–2965|issn=2156-6976|pmc=9360221|pmid=35968339}}</ref><ref>{{Cite journal|last=Chakraborty|first=Rajshekhar|last2=Bhutani|first2=Divaya|last3=Lentzsch|first3=Suzanne|date=2022-10|title=How do we manage t(11;14) plasma cell disorders with venetoclax?|url=https://pubmed.ncbi.nlm.nih.gov/35594184|journal=British Journal of Haematology|volume=199|issue=1|pages=31–39|doi=10.1111/bjh.18243|issn=1365-2141|pmid=35594184}}</ref>
*FISH detection of the potentially frequent t(11;14) IGH/CCND1 fusion in association with BCL2 overexpression may help guide the application of BCL2 blocking agents including venetoclax<ref>{{Cite journal|last=Szita|first=Virág Réka|last2=Mikala|first2=Gábor|last3=Kozma|first3=András|last4=Fábián|first4=János|last5=Hardi|first5=Apor|last6=Alizadeh|first6=Hussain|last7=Rajnics|first7=Péter|last8=Rejtő|first8=László|last9=Szendrei|first9=Tamás|date=2022|title=Targeted Venetoclax Therapy in t(11;14) Multiple Myeloma: Real World Data From Seven Hungarian Centers|url=https://pubmed.ncbi.nlm.nih.gov/35295611|journal=Pathology oncology research: POR|volume=28|pages=1610276|doi=10.3389/pore.2022.1610276|issn=1532-2807|pmc=8918485|pmid=35295611}}</ref><ref>{{Cite journal|last=Bal|first=Susan|last2=Kumar|first2=Shaji K.|last3=Fonseca|first3=Rafael|last4=Gay|first4=Francesca|last5=Hungria|first5=Vania Tm|last6=Dogan|first6=Ahmet|last7=Costa|first7=Luciano J.|date=2022|title=Multiple myeloma with t(11;14): unique biology and evolving landscape|url=https://pubmed.ncbi.nlm.nih.gov/35968339|journal=American Journal of Cancer Research|volume=12|issue=7|pages=2950–2965|issn=2156-6976|pmc=9360221|pmid=35968339}}</ref><ref>{{Cite journal|last=Chakraborty|first=Rajshekhar|last2=Bhutani|first2=Divaya|last3=Lentzsch|first3=Suzanne|date=2022-10|title=How do we manage t(11;14) plasma cell disorders with venetoclax?|url=https://pubmed.ncbi.nlm.nih.gov/35594184|journal=British Journal of Haematology|volume=199|issue=1|pages=31–39|doi=10.1111/bjh.18243|issn=1365-2141|pmid=35594184}}</ref>


<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</blockquote>
==Individual Region Genomic Gain / Loss / LOH==
==Individual Region Genomic Gain/Loss/LOH==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!Diagnostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Prognostic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Therapeutic Significance (Yes, No or Unknown)
!Clinical Relevance Details/Other Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
7
7
|<span class="blue-text">EXAMPLE:</span> Loss
|<span class="blue-text">EXAMPLE:</span> Loss
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
 
chr7
chr7:1- 159,335,973 [hg38]
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
 
Unknown
chr7
|<span class="blue-text">EXAMPLE:</span> D, P
|Yes
|<span class="blue-text">EXAMPLE:</span> No
|Yes
|No
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
8
8
|<span class="blue-text">EXAMPLE:</span> Gain
|<span class="blue-text">EXAMPLE:</span> Gain
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
 
chr8
chr8:1-145,138,636 [hg38]
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add references).
|-
|<span class="blue-text">EXAMPLE:</span>
17
|<span class="blue-text">EXAMPLE:</span> Amp
|<span class="blue-text">EXAMPLE:</span>
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
 
''ERBB2''
chr8
|<span class="blue-text">EXAMPLE:</span> D, P, T
|No
|
|No
|No
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
 
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
Common recurrent secondary finding for t(8;21) (add reference).
|-
|
|
|
|
|
|
|
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}
<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>


*Findings are similar to those of the underlying condition (e.g., [[HAEM4:Plasma Cell Neoplasms|Plasma Cell Neoplasm]], [[HAEM5:Lymphoplasmacytic lymphoma]])
*Findings are similar to those of the underlying condition (e.g., [[HAEM4:Plasma Cell Neoplasms|Plasma Cell Neoplasm]], [[HAEM5:Lymphoplasmacytic lymphoma]])


<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</blockquote>
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==


Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis. Do not delete table.'')</span>


Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
!Chromosomal Pattern
!Diagnostic Significance (Yes, No or Unknown)
!Molecular Pathogenesis
!Prognostic Significance (Yes, No or Unknown)
!Prevalence -
!Therapeutic Significance (Yes, No or Unknown)
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Notes
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
Co-deletion of 1p and 18q
Co-deletion of 1p and 18q
|Yes
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|No
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
|No
|<span class="blue-text">EXAMPLE:</span> D, P
|
|
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
 
Microsatellite instability - hypermutated
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
|<span class="blue-text">EXAMPLE:</span> P, T
|
|
|-
|
|
|
|
|
|
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}
<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>


*Patients with PCM presumably have similar genomic abnormalities to myelomas without Ig deposition, perhaps with a different prevalence
*Patients with PCM presumably have similar genomic abnormalities to myelomas without Ig deposition, perhaps with a different prevalence
Line 274: Line 242:
*
*


<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</blockquote>
==Gene Mutations (SNV / INDEL)==
==Gene Mutations (SNV/INDEL)==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span>


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
!'''Diagnostic Significance (Yes, No or Unknown)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Prognostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!Therapeutic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span>''EGFR''


<span class="blue-text">EXAMPLE:</span>
<br />
 
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
EGFR; Exon 20 mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
 
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
|<span class="blue-text">EXAMPLE:</span> T
|<span class="blue-text">EXAMPLE:</span> TSG
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
 
|-
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
<br />
|<span class="blue-text">EXAMPLE:</span> EGFR amplification
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|<span class="blue-text">EXAMPLE:</span> P
|
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|<span class="blue-text">EXAMPLE:</span> T
|
|
|-
|
|
|
|
|
|
|
|
|
|
|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
<br />
|}
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


 
<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}


*Findings are similar to those of the underlying condition (e.g., [[HAEM4:Plasma Cell Neoplasms|Plasma Cell Neoplasm]], [[HAEM5:Lymphoplasmacytic lymphoma]])
*Findings are similar to those of the underlying condition (e.g., [[HAEM4:Plasma Cell Neoplasms|Plasma Cell Neoplasm]], [[HAEM5:Lymphoplasmacytic lymphoma]])


<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</blockquote>
==Epigenomic Alterations==
==Epigenomic Alterations==
Line 320: Line 308:
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|-
|-
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|-
|-
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
|-
|
|
|
|}
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}
<blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>


*Findings are similar to those of the underlying condition (e.g., [[HAEM4:Plasma Cell Neoplasms|Plasma Cell Neoplasm]], [[HAEM5:Lymphoplasmacytic lymphoma]])
*Findings are similar to those of the underlying condition (e.g., [[HAEM4:Plasma Cell Neoplasms|Plasma Cell Neoplasm]], [[HAEM5:Lymphoplasmacytic lymphoma]])


<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
</blockquote>
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
Testing methods include those needed to diagnose the underlying condition, as well as those specifically needed to detect the offending Ig in liquid samples and tissues.  The following methods of testing have been reported<ref name=":0" /><ref name=":2" /><ref name=":1" /><ref name=":4" /><ref name=":3" />:
Testing methods include those needed to diagnose the underlying condition, as well as those specifically needed to detect the offending Ig in liquid samples and tissues.  The following methods of testing have been reported<ref name=":0">{{Cite journal|last=Pozzi|first=Claudio|last2=D'Amico|first2=Marco|last3=Fogazzi|first3=Giovanni B.|last4=Curioni|first4=Simona|last5=Ferrario|first5=Franco|last6=Pasquali|first6=Sonia|last7=Quattrocchio|first7=Giacomo|last8=Rollino|first8=Cristiana|last9=Segagni|first9=Siro|date=2003-12|title=Light chain deposition disease with renal involvement: clinical characteristics and prognostic factors|url=https://pubmed.ncbi.nlm.nih.gov/14655186|journal=American Journal of Kidney Diseases: The Official Journal of the National Kidney Foundation|volume=42|issue=6|pages=1154–1163|doi=10.1053/j.ajkd.2003.08.040|issn=1523-6838|pmid=14655186}}</ref><ref name=":2">{{Cite journal|last=Nasr|first=Samih H.|last2=Valeri|first2=Anthony M.|last3=Cornell|first3=Lynn D.|last4=Fidler|first4=Mary E.|last5=Sethi|first5=Sanjeev|last6=D'Agati|first6=Vivette D.|last7=Leung|first7=Nelson|date=2012-02|title=Renal monoclonal immunoglobulin deposition disease: a report of 64 patients from a single institution|url=https://pubmed.ncbi.nlm.nih.gov/22156754|journal=Clinical journal of the American Society of Nephrology: CJASN|volume=7|issue=2|pages=231–239|doi=10.2215/CJN.08640811|issn=1555-905X|pmid=22156754}}</ref><ref name=":1">{{Cite journal|last=Joly|first=Florent|last2=Cohen|first2=Camille|last3=Javaugue|first3=Vincent|last4=Bender|first4=Sébastien|last5=Belmouaz|first5=Mohamed|last6=Arnulf|first6=Bertrand|last7=Knebelmann|first7=Bertrand|last8=Nouvier|first8=Mathilde|last9=Audard|first9=Vincent|date=2019-02-07|title=Randall-type monoclonal immunoglobulin deposition disease: novel insights from a nationwide cohort study|url=https://pubmed.ncbi.nlm.nih.gov/30578255|journal=Blood|volume=133|issue=6|pages=576–587|doi=10.1182/blood-2018-09-872028|issn=1528-0020|pmid=30578255}}</ref><ref name=":4" /><ref name=":3">{{Cite journal|last=Mohan|first=Meera|last2=Buros|first2=Amy|last3=Mathur|first3=Pankaj|last4=Gokden|first4=Neriman|last5=Singh|first5=Manisha|last6=Susanibar|first6=Sandra|last7=Jo Kamimoto|first7=Jorge|last8=Hoque|first8=Shadiqul|last9=Radhakrishnan|first9=Muthukumar|date=2017-08|title=Clinical characteristics and prognostic factors in multiple myeloma patients with light chain deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/28383130|journal=American Journal of Hematology|volume=92|issue=8|pages=739–745|doi=10.1002/ajh.24756|issn=1096-8652|pmid=28383130}}</ref>:


*Diagnosis relies on detection of monoclonal Ig deposition in tissues biopsy; fine needle aspiration is not enough for diagnosis
*Diagnosis relies on detection of monoclonal Ig deposition in tissues biopsy; fine needle aspiration is not enough for diagnosis
Line 359: Line 355:
==Additional Information==
==Additional Information==


*Survival improves with early diagnosis and proteasome inhibitor (PI)-based treatment, autologous stem cell transplantation, and kidney transplantation<ref name=":5" /><ref name=":6">{{Cite journal|last=Cohen|first=Camille|last2=Royer|first2=Bruno|last3=Javaugue|first3=Vincent|last4=Szalat|first4=Raphael|last5=El Karoui|first5=Khalil|last6=Caulier|first6=Alexis|last7=Knebelmann|first7=Bertrand|last8=Jaccard|first8=Arnaud|last9=Chevret|first9=Sylvie|date=2015-11|title=Bortezomib produces high hematological response rates with prolonged renal survival in monoclonal immunoglobulin deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/26176826|journal=Kidney International|volume=88|issue=5|pages=1135–1143|doi=10.1038/ki.2015.201|issn=1523-1755|pmid=26176826}}</ref>
*Survival improves with early diagnosis and proteasome inhibitor (PI)-based treatment, autologous stem cell transplantation, and kidney transplantation<ref name=":5">{{Cite journal|last=Sayed|first=Rabya H.|last2=Wechalekar|first2=Ashutosh D.|last3=Gilbertson|first3=Janet A.|last4=Bass|first4=Paul|last5=Mahmood|first5=Shameem|last6=Sachchithanantham|first6=Sajitha|last7=Fontana|first7=Marianna|last8=Patel|first8=Ketna|last9=Whelan|first9=Carol J.|date=2015-12-24|title=Natural history and outcome of light chain deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/26392598|journal=Blood|volume=126|issue=26|pages=2805–2810|doi=10.1182/blood-2015-07-658872|issn=1528-0020|pmc=4732758|pmid=26392598}}</ref><ref name=":6">{{Cite journal|last=Cohen|first=Camille|last2=Royer|first2=Bruno|last3=Javaugue|first3=Vincent|last4=Szalat|first4=Raphael|last5=El Karoui|first5=Khalil|last6=Caulier|first6=Alexis|last7=Knebelmann|first7=Bertrand|last8=Jaccard|first8=Arnaud|last9=Chevret|first9=Sylvie|date=2015-11|title=Bortezomib produces high hematological response rates with prolonged renal survival in monoclonal immunoglobulin deposition disease|url=https://pubmed.ncbi.nlm.nih.gov/26176826|journal=Kidney International|volume=88|issue=5|pages=1135–1143|doi=10.1038/ki.2015.201|issn=1523-1755|pmid=26176826}}</ref>
*Poor prognosis markers include old age, the presence of PCM, extrarenal (especially cardiac) involvement, poor response to initial treatment<ref name=":1" /><ref>{{Cite journal|last=Angel-Korman|first=Avital|last2=Stern|first2=Lauren|last3=Angel|first3=Yoel|last4=Sarosiek|first4=Shayna|last5=Menn-Josephy|first5=Hanni|last6=Francis|first6=Jean|last7=Ghai|first7=Sandeep|last8=Sloan|first8=J. Mark|last9=Sanchorawala|first9=Vaishali|date=2020-04|title=The Role of Kidney Transplantation in Monoclonal Ig Deposition Disease|url=https://pubmed.ncbi.nlm.nih.gov/32274452|journal=Kidney International Reports|volume=5|issue=4|pages=485–493|doi=10.1016/j.ekir.2020.01.011|issn=2468-0249|pmc=7136323|pmid=32274452}}</ref>
*Poor prognosis markers include old age, the presence of PCM, extrarenal (especially cardiac) involvement, poor response to initial treatment<ref name=":1" /><ref>{{Cite journal|last=Angel-Korman|first=Avital|last2=Stern|first2=Lauren|last3=Angel|first3=Yoel|last4=Sarosiek|first4=Shayna|last5=Menn-Josephy|first5=Hanni|last6=Francis|first6=Jean|last7=Ghai|first7=Sandeep|last8=Sloan|first8=J. Mark|last9=Sanchorawala|first9=Vaishali|date=2020-04|title=The Role of Kidney Transplantation in Monoclonal Ig Deposition Disease|url=https://pubmed.ncbi.nlm.nih.gov/32274452|journal=Kidney International Reports|volume=5|issue=4|pages=485–493|doi=10.1016/j.ekir.2020.01.011|issn=2468-0249|pmc=7136323|pmid=32274452}}</ref>
*Elimination or reduction of the underlying B-cell proliferative neoplasms to control the aberrant Ig deposition is crucial for preventing disease progression<ref name=":6" /><ref name=":5" />
*Elimination or reduction of the underlying B-cell proliferative neoplasms to control the aberrant Ig deposition is crucial for preventing disease progression<ref name=":6" /><ref name=":5" />
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==References==
==References==
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==Notes==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.
 
Prior Author(s): 
 
       
<nowiki>*</nowiki>''Citation of this Page'': “Monoclonal immunoglobulin deposition disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Monoclonal_immunoglobulin_deposition_disease</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Monoclonal immunoglobulin deposition disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Monoclonal_immunoglobulin_deposition_disease</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases M]]
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