HAEM5:Monoclonal immunoglobulin deposition disease: Difference between revisions

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>:

*Elevated liver function test results if liver involved

</blockquote>

==Sites of Involvement==

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" />:

*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)==

*There is limited information on the genomic abnormalities of the plasma cells in light chain and heavy chain deposition disease

*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>

* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

*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>

</blockquote>

==Individual Region Genomic Gain / Loss / LOH==

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

</blockquote>

==Characteristic Chromosomal Patterns==

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

*

</blockquote>

==Gene Mutations (SNV / INDEL)==

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

</blockquote>

==Epigenomic Alterations==

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

</blockquote>

==Genetic Diagnostic Testing Methods==