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| {{DISPLAYTITLE:Gamma heavy chain disease}} | | {{DISPLAYTITLE:Gamma heavy chain disease}} |
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| [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
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| {{Under Construction}} | | {{Under Construction}} |
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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:Gamma Heavy Chain 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:Gamma Heavy Chain Disease]]. |
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| ==Definition / Description of Disease==
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| *gHCD is a B-cell neoplasm of lymphocytes, plasmacytoid lymphocytes and plasma cells<ref name=":0">{{Cite journal|last=Fermand|first=J. P.|last2=Brouet|first2=J. C.|last3=Danon|first3=F.|last4=Seligmann|first4=M.|date=1989-11|title=Gamma heavy chain "disease": heterogeneity of the clinicopathologic features. Report of 16 cases and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/2509855|journal=Medicine|volume=68|issue=6|pages=321–335|issn=0025-7974|pmid=2509855}}</ref><ref name=":1">{{Cite journal|last=Ramasamy|first=I.|last2=Rudzki|first2=Z.|date=2018|title=Two Cases of γ-Heavy Chain Disease and a Review of the Literature|url=https://pubmed.ncbi.nlm.nih.gov/30186642|journal=Case Reports in Hematology|volume=2018|pages=4832619|doi=10.1155/2018/4832619|issn=2090-6560|pmc=6109557|pmid=30186642}}</ref>
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| *Heterogenous clinical and pathological presentation<ref name=":0" />
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| *Disseminated lymphoproliferative disorder is present in most patients at diagnosis<ref name=":0" /><ref name=":1" /><ref name=":2">{{Cite journal|last=Wahner-Roedler|first=Dietlind L.|last2=Witzig|first2=Thomas E.|last3=Loehrer|first3=Laura L.|last4=Kyle|first4=Robert A.|date=2003-07|title=Gamma-heavy chain disease: review of 23 cases|url=https://pubmed.ncbi.nlm.nih.gov/12861101|journal=Medicine|volume=82|issue=4|pages=236–250|doi=10.1097/01.md.0000085058.63483.7f|issn=0025-7974|pmid=12861101}}</ref>
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| *It produces truncated monoclonal gamma (g) immunoglobulin (IgG) heavy chain that is incapable of associating with light chains<ref name=":1" />
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| *Have concomitant autoimmune disease (mostly rheumatoid arthritis)
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| *Three clusters of γ-HCD patients are identified:
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| *#In around 60% of cases, γ-HCD is associated to disseminated lymphoma and patients typically have poor condition.
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| *#In 25% of patients, γ-HCD is associated to localized lymphoma, affecting bone marrow, skin, thyroid, parotid, gastrointestinal or oropharynx tract (MALT lymphoma)
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| *#In 15% of patients, γ-HCD is associated with autoimmune disease, mainly RA<ref>{{Cite journal|last=Danic|first=Gwenvaël|last2=Dejoie|first2=Thomas|last3=Caillon|first3=Hélène|last4=Achille|first4=Aurélie|last5=Pottier|first5=Pierre|last6=Agard|first6=Christian|date=2021-03-17|title=Gamma heavy chain disease associated with rheumatoid arthritis: a case report|url=https://pubmed.ncbi.nlm.nih.gov/33726782|journal=Journal of Medical Case Reports|volume=15|issue=1|pages=121|doi=10.1186/s13256-021-02696-7|issn=1752-1947|pmc=7968189|pmid=33726782}}</ref>
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| ==Synonyms / Terminology==
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| *Franklin disease<ref>{{Cite journal|last=Franklin|first=E. C.|last2=Lowenstein|first2=J.|last3=Bigelow|first3=B.|last4=Meltzer|first4=M.|date=1964-09|title=HEAVY CHAIN DISEASE- A NEW DISORDER OF SERUM GAMMA-GLOBULINS : REPORT OF THE FIRST CASE|url=https://pubmed.ncbi.nlm.nih.gov/14209281|journal=The American Journal of Medicine|volume=37|pages=332–350|doi=10.1016/0002-9343(64)90191-3|issn=0002-9343|pmid=14209281}}</ref>/ γHCD
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| ==Epidemiology / Prevalence==
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| *Incidence: Very rare, till date, ~only 200 cases have been reported in the literature<ref name=":3">{{Cite journal|last=Munshi|first=Nikhil C.|last2=Digumarthy|first2=Subba|last3=Rahemtullah|first3=Aliyah|date=2008-04-24|title=Case records of the Massachusetts General Hospital. Case 13-2008. A 46-year-old man with rheumatoid arthritis and lymphadenopathy|url=https://pubmed.ncbi.nlm.nih.gov/18434654|journal=The New England Journal of Medicine|volume=358|issue=17|pages=1838–1848|doi=10.1056/NEJMcpc0800959|issn=1533-4406|pmid=18434654}}</ref>
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| *Median age: 68 years (range, 42–87 years)<ref>{{Cite journal|last=Zhou|first=Hebing|last2=Chen|first2=Wenming|last3=Zhang|first3=Juan|last4=Zeng|first4=Hui|last5=Jian|first5=Yuan|last6=Fu|first6=Chenxiao|date=2016-06|title=T cell receptor rearrangements in a patient with γ-heavy chain disease: A case report|url=https://pubmed.ncbi.nlm.nih.gov/27313757|journal=Oncology Letters|volume=11|issue=6|pages=4147–4151|doi=10.3892/ol.2016.4515|issn=1792-1074|pmc=4888291|pmid=27313757}}</ref>
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| *Slight female predominance<ref name=":2" />
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| ==Clinical Features==
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| 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>
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| {| class="wikitable"
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| |'''Signs and Symptoms'''
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| |<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
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| <span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
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| <span class="blue-text">EXAMPLE:</span> Fatigue
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| <span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
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| |-
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| |'''Laboratory Findings'''
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| |<span class="blue-text">EXAMPLE:</span> Cytopenias
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| <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
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| |}
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| <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
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| '''Signs & Symptoms'''
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| *Anorexia
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| *Fever
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| *Weakness
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| *Weight loss
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| *Recurrent bacterial infections
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| *Concomitant autoimmune disorder
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| **Rheumatoid arthritis
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| **Myasthenia Gravis
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| **Autoimmune cytopenia
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| **Systemic Lupus Erythematosus
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| **Thyroiditis
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| **Vasculitis
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| **Wasting
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| **Sjögren syndrome
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| **Thrombocytopenia
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| **Autoimmune hemolytic anemia
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| '''Laboratory Findings'''
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| *Anemia
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| *Thrombocytopenia
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| '''Molecular Biology and Genetics'''
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| *gHCD seems to be caused by deletions and/or insertions within the rearranged variable region genes (V), which could be a by-product of somatic hypermutation<ref name=":1" /><ref name=":5">{{Cite journal|last=Goossens|first=T.|last2=Klein|first2=U.|last3=Küppers|first3=R.|date=1998-03-03|title=Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease|url=https://pubmed.ncbi.nlm.nih.gov/9482908|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=95|issue=5|pages=2463–2468|doi=10.1073/pnas.95.5.2463|issn=0027-8424|pmc=PMC19376|pmid=9482908}}</ref>
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| <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":2" /><blockquote class="blockedit">
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| <center><span style="color:Maroon">'''End of V4 Section'''</span>
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| <blockquote class="blockedit">
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| <center><span style="color:Maroon">'''End of V4 Section'''</span>
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| </blockquote>
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| </blockquote>
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| ==Sites of Involvement==
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| *Bone marrow
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| *Peripheral blood
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| *Spleen
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| *Liver
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| *Lymph nodes
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| *Waldeyer ring
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| *Gastrointestinal tract
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| *Extranodal sites
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| ==Morphologic Features==
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| *Mixed proliferation of various cell types:
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| **Lymphocytes
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| **Plasmacytoid lymphocytes
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| **Plasma cells
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| **Scattered immunoblasts
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| **Reed–Sternberg cells
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| **Eosinophils and histiocytes
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| *Vascular proliferation may give rise to the histologic differential diagnosis of Hodgkin’s lymphoma or certain forms of T-cell lymphoma
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| <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":3" /><blockquote class="blockedit">
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| <center><span style="color:Maroon">'''End of V4 Section'''</span>
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| </blockquote>
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| ==Immunophenotype==
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| {| class="wikitable sortable"
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| !Finding!!Marker
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| |Positive (B-cell lineage marker)||CD19, CD20, CD79a, IgG (cytoplasmic) without light chain
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| |Positive-Plasmacytoid cells||MUM1/IRF4
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| |-
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| |Positive-Plasma cells
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| |CD38, CD138
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| |-
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| |Negative||CD5, CD10
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| |}
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| <blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":3" /><blockquote class="blockedit">
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| <center><span style="color:Maroon">'''End of V4 Section'''</span>
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| ----
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| </blockquote>
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| ==WHO Essential and Desirable Genetic Diagnostic Criteria== | | ==WHO Essential and Desirable Genetic Diagnostic Criteria== |
| <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span> | | <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span> |
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| <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.}}</blockquote> |
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| *No consistent gene fusions<ref>{{Cite journal|last=Witzig|first=Thomas E.|last2=Wahner-Roedler|first2=Dietlind L.|date=2002-06|title=Heavy chain disease|url=https://pubmed.ncbi.nlm.nih.gov/12057070|journal=Current Treatment Options in Oncology|volume=3|issue=3|pages=247–254|doi=10.1007/s11864-002-0014-3|issn=1527-2729|pmid=12057070}}</ref> | | *No consistent gene fusions<ref>{{Cite journal|last=Witzig|first=Thomas E.|last2=Wahner-Roedler|first2=Dietlind L.|date=2002-06|title=Heavy chain disease|url=https://pubmed.ncbi.nlm.nih.gov/12057070|journal=Current Treatment Options in Oncology|volume=3|issue=3|pages=247–254|doi=10.1007/s11864-002-0014-3|issn=1527-2729|pmid=12057070}}</ref> |
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| <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 |
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| * N/A | | *N/A |
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| <blockquote class= 'blockedit '>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":4">{{Cite journal|last=Singer|first=Sara|last2=Efebera|first2=Yvonne|last3=Bumma|first3=Naresh|last4=Khan|first4=Abdullah|last5=Devarakonda|first5=Srinivas|last6=Chaudhry|first6=Maria|last7=Benson|first7=Don|last8=Rosko|first8=Ashley E.|date=2020-08|title=Heavy Lifting: Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders|url=https://pubmed.ncbi.nlm.nih.gov/32245744|journal=Clinical Lymphoma, Myeloma & Leukemia|volume=20|issue=8|pages=493–498|doi=10.1016/j.clml.2020.02.020|issn=2152-2669|pmid=32245744}}</ref><blockquote class="blockedit"> | | <blockquote class= "blockedit ">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":4">{{Cite journal|last=Singer|first=Sara|last2=Efebera|first2=Yvonne|last3=Bumma|first3=Naresh|last4=Khan|first4=Abdullah|last5=Devarakonda|first5=Srinivas|last6=Chaudhry|first6=Maria|last7=Benson|first7=Don|last8=Rosko|first8=Ashley E.|date=2020-08|title=Heavy Lifting: Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders|url=https://pubmed.ncbi.nlm.nih.gov/32245744|journal=Clinical Lymphoma, Myeloma & Leukemia|volume=20|issue=8|pages=493–498|doi=10.1016/j.clml.2020.02.020|issn=2152-2669|pmid=32245744}}</ref><blockquote class="blockedit"> |
| <center><span style="color:Maroon">'''End of V4 Section'''</span> | | <center><span style="color:Maroon">'''End of V4 Section'''</span> |
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| <blockquote class= 'blockedit '>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" /><ref name=":5" /><blockquote class="blockedit"> | | <blockquote class= "blockedit ">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref name=":1" >{{Cite journal|last=Ramasamy|first=I.|last2=Rudzki|first2=Z.|date=2018|title=Two Cases of γ-Heavy Chain Disease and a Review of the Literature|url=https:// pubmed.ncbi.nlm.nih.gov/30186642|journal=Case Reports in Hematology|volume=2018|pages=4832619|doi=10.1155/2018/4832619|issn=2090-6560|pmc=6109557|pmid=30186642}}</ref><ref name=":5" >{{Cite journal|last=Goossens|first=T.|last2=Klein|first2=U.|last3=Küppers|first3=R.|date=1998-03-03|title=Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease|url=https://pubmed.ncbi.nlm.nih.gov/9482908|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=95|issue=5|pages=2463–2468|doi=10.1073/pnas.95.5.2463|issn=0027-8424|pmc=PMC19376|pmid=9482908}}</ ref><blockquote class="blockedit"> |
| <center><span style="color:Maroon">'''End of V4 Section'''</span> | | <center><span style="color:Maroon">'''End of V4 Section'''</span> |
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| <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> | | <blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> |
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| *No consistent pattern reported | | *No consistent pattern reported |
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| <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> | | <blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> |
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| * N/A | | *N/A |
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| <blockquote class= 'blockedit '>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref>{{Cite journal|last=Mrosewski|first=Ingo|last2=Urbank|first2=Matthias|date=2020-01-01|title=Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature|url=https://pubmed.ncbi.nlm.nih.gov/32013371|journal=Clinical Laboratory|volume=66|issue=1|doi=10.7754/Clin.Lab.2019.190623|issn=1433-6510|pmid=32013371}}</ref><ref>{{Cite journal|last=Thoren|first=Katie L.|last2=Eveillard|first2=Marion|last3=Chan|first3=Patrick|last4=Doddi|first4=Sital|last5=Cho|first5=Sun|last6=Murata|first6=Kazunori|date=2020-03|title=Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry|url=https://pubmed.ncbi.nlm.nih.gov/31884198|journal=Clinical Biochemistry|volume=77|pages=57–61|doi=10.1016/j.clinbiochem.2019.12.010|issn=1873-2933|pmc=7046309|pmid=31884198}}</ref><ref>{{Cite journal|last=Ho|first=Y. H.|last2=Wang|first2=J. L.|last3=DeLelys|first3=M. E.|last4=Murali|first4=M. R.|last5=Pitman|first5=M. B.|last6=Sohani|first6=A. R.|date=2014-08|title=Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings|url=https://pubmed.ncbi.nlm.nih.gov/25180407|journal=Cytopathology: Official Journal of the British Society for Clinical Cytology|volume=25|issue=4|pages=270–273|doi=10.1111/cyt.12126|issn=1365-2303|pmid=25180407}}</ref><blockquote class="blockedit"> | | <blockquote class= "blockedit ">{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref>{{Cite journal|last=Mrosewski|first=Ingo|last2=Urbank|first2=Matthias|date=2020-01-01|title=Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature|url=https://pubmed.ncbi.nlm.nih.gov/32013371|journal=Clinical Laboratory|volume=66|issue=1|doi=10.7754/Clin.Lab.2019.190623|issn=1433-6510|pmid=32013371}}</ref><ref>{{Cite journal|last=Thoren|first=Katie L.|last2=Eveillard|first2=Marion|last3=Chan|first3=Patrick|last4=Doddi|first4=Sital|last5=Cho|first5=Sun|last6=Murata|first6=Kazunori|date=2020-03|title=Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry|url=https://pubmed.ncbi.nlm.nih.gov/31884198|journal=Clinical Biochemistry|volume=77|pages=57–61|doi=10.1016/j.clinbiochem.2019.12.010|issn=1873-2933|pmc=7046309|pmid=31884198}}</ref><ref>{{Cite journal|last=Ho|first=Y. H.|last2=Wang|first2=J. L.|last3=DeLelys|first3=M. E.|last4=Murali|first4=M. R.|last5=Pitman|first5=M. B.|last6=Sohani|first6=A. R.|date=2014-08|title=Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings|url=https://pubmed.ncbi.nlm.nih.gov/25180407|journal=Cytopathology: Official Journal of the British Society for Clinical Cytology|volume=25|issue=4|pages=270–273|doi=10.1111/cyt.12126|issn=1365-2303|pmid=25180407}}</ref><blockquote class="blockedit"> |
| <center><span style="color:Maroon">'''End of V4 Section'''</span> | | <center><span style="color:Maroon">'''End of V4 Section'''</span> |
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| <center><span style="color:Maroon">'''End of V4 Section'''</span> | | <center><span style="color:Maroon">'''End of V4 Section'''</span> |
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| ==Links== | | ==Links== |
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| ==References== | | ==References== |
| (use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references /> | | (use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references /> |
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| ==Notes== | | ==Notes== |
| Line 557: |
Line 426: |
| *No sequencing data is available till date. | | *No sequencing data is available till date. |
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| [[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases G]] | | [[Category:HAEM5]] |
| | [[Category:DISEASE]] |
| | [[Category:Diseases G]] |
| | <references /> |
