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{{DISPLAYTITLE:Gamma heavy chain disease}} | {{DISPLAYTITLE:Gamma heavy chain disease}} | ||
| − | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | + | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] |
{{Under Construction}} | {{Under Construction}} | ||
| − | <blockquote class='blockedit'>{{Box-round|title= | + | <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> | }}</blockquote> | ||
| + | |||
| + | <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> | ||
| + | |||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
Manisha Brahmbhatt-Sutariya | Manisha Brahmbhatt-Sutariya | ||
| Line 17: | Line 20: | ||
__TOC__ | __TOC__ | ||
| − | == | + | ==WHO Classification of Disease== |
| − | + | {| class="wikitable" | |
| − | + | !Structure | |
| − | + | !Disease | |
| − | + | |- | |
| − | + | |Book | |
| + | |Haematolymphoid Tumours (5th ed.) | ||
| + | |- | ||
| + | |Category | ||
| + | |B-cell lymphoid proliferations and lymphomas | ||
| + | |- | ||
| + | |Family | ||
| + | |Plasma cell neoplasms and other diseases with paraproteins | ||
| + | |- | ||
| + | |Type | ||
| + | |Heavy chain diseases | ||
| + | |- | ||
| + | |Subtype(s) | ||
| + | |Gamma heavy chain disease | ||
| + | |} | ||
==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
| Line 49: | Line 66: | ||
==Clinical Features== | ==Clinical Features== | ||
| − | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span> | + | 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''' | |'''Signs and Symptoms''' | ||
| − | |EXAMPLE Asymptomatic (incidental finding on complete blood counts) | + | |<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts) |
| − | EXAMPLE B-symptoms (weight loss, fever, night sweats) | + | <span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats) |
| − | EXAMPLE Fatigue | + | <span class="blue-text">EXAMPLE:</span> Fatigue |
| − | EXAMPLE Lymphadenopathy (uncommon) | + | <span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon) |
|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
| − | |EXAMPLE Cytopenias | + | |<span class="blue-text">EXAMPLE:</span> Cytopenias |
| − | EXAMPLE Lymphocytosis (low level) | + | <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level) |
|} | |} | ||
| Line 157: | Line 174: | ||
!Notes | !Notes | ||
|- | |- | ||
| − | |EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC) | + | |<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) |
| − | EXAMPLE 30% (add reference) | + | <span class="blue-text">EXAMPLE:</span> 30% (add reference) |
|Yes | |Yes | ||
|No | |No | ||
|Yes | |Yes | ||
| − | |EXAMPLE | + | |<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). | 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). | ||
| Line 189: | Line 206: | ||
==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.'') </span> | + | 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> |
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 199: | Line 216: | ||
!Notes | !Notes | ||
|- | |- | ||
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
7 | 7 | ||
| − | |EXAMPLE Loss | + | |<span class="blue-text">EXAMPLE:</span> Loss |
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
chr7:1- 159,335,973 [hg38] | chr7:1- 159,335,973 [hg38] | ||
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
chr7 | chr7 | ||
| Line 212: | Line 229: | ||
|Yes | |Yes | ||
|No | |No | ||
| − | |EXAMPLE | + | |<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 reference). | 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). | ||
|- | |- | ||
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
8 | 8 | ||
| − | |EXAMPLE Gain | + | |<span class="blue-text">EXAMPLE:</span> Gain |
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
chr8:1-145,138,636 [hg38] | chr8:1-145,138,636 [hg38] | ||
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
chr8 | chr8 | ||
| Line 229: | Line 246: | ||
|No | |No | ||
|No | |No | ||
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
Common recurrent secondary finding for t(8;21) (add reference). | Common recurrent secondary finding for t(8;21) (add reference). | ||
| Line 245: | Line 262: | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal 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'')</span> | + | 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> |
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 255: | Line 272: | ||
!Notes | !Notes | ||
|- | |- | ||
| − | |EXAMPLE | + | |<span class="blue-text">EXAMPLE:</span> |
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
| Line 261: | Line 278: | ||
|No | |No | ||
|No | |No | ||
| − | |EXAMPLE: | + | |<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). | See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | ||
| Line 273: | Line 290: | ||
==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 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 | + | 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> |
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 283: | Line 300: | ||
!Notes | !Notes | ||
|- | |- | ||
| − | |EXAMPLE: TP53; Variable LOF mutations | + | |<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations |
| − | EXAMPLE: | + | <span class="blue-text">EXAMPLE:</span> |
EGFR; Exon 20 mutations | EGFR; Exon 20 mutations | ||
| − | EXAMPLE: BRAF; Activating mutations | + | <span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations |
| − | |EXAMPLE: TSG | + | |<span class="blue-text">EXAMPLE:</span> TSG |
| − | |EXAMPLE: 20% (COSMIC) | + | |<span class="blue-text">EXAMPLE:</span> 20% (COSMIC) |
| − | EXAMPLE: 30% (add Reference) | + | <span class="blue-text">EXAMPLE:</span> 30% (add Reference) |
| − | |EXAMPLE: IDH1 R123H | + | |<span class="blue-text">EXAMPLE:</span> IDH1 R123H |
| − | |EXAMPLE: EGFR amplification | + | |<span class="blue-text">EXAMPLE:</span> EGFR amplification |
| | | | ||
| | | | ||
| | | | ||
| − | |EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference). | + | |<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference). |
<br /> | <br /> | ||
|} | |} | ||
| Line 310: | Line 327: | ||
==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.'')</span> | + | 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> |
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
| − | |EXAMPLE: BRAF and MAP2K1; Activating mutations | + | |<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations |
| − | |EXAMPLE: MAPK signaling | + | |<span class="blue-text">EXAMPLE:</span> MAPK signaling |
| − | |EXAMPLE: Increased cell growth and proliferation | + | |<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation |
|- | |- | ||
| − | |EXAMPLE: CDKN2A; Inactivating mutations | + | |<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations |
| − | |EXAMPLE: Cell cycle regulation | + | |<span class="blue-text">EXAMPLE:</span> Cell cycle regulation |
| − | |EXAMPLE: Unregulated cell division | + | |<span class="blue-text">EXAMPLE:</span> Unregulated cell division |
|- | |- | ||
| − | |EXAMPLE: KMT2C and ARID1A; Inactivating mutations | + | |<span class="blue-text">EXAMPLE:</span> KMT2C and ARID1A; Inactivating mutations |
| − | |EXAMPLE: Histone modification, chromatin remodeling | + | |<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling |
| − | |EXAMPLE: Abnormal gene expression program | + | |<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program |
|} | |} | ||
Latest revision as of 17:33, 6 September 2024
Haematolymphoid Tumours (WHO Classification, 5th ed.)
 | This page is under construction |
editContent Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition ClassificationThis page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Gamma Heavy Chain Disease.
(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)
Primary Author(s)*
Manisha Brahmbhatt-Sutariya
Asst. Professor, Dept. of Pathology and Human Anatomy
Technical Supervisor, Clinical Genetics Laboratory
Loma Linda University, Medical Center, CA
WHO Classification of Disease
| Structure | Disease |
|---|---|
| Book | Haematolymphoid Tumours (5th ed.) |
| Category | B-cell lymphoid proliferations and lymphomas |
| Family | Plasma cell neoplasms and other diseases with paraproteins |
| Type | Heavy chain diseases |
| Subtype(s) | Gamma heavy chain disease |
Definition / Description of Disease
- gHCD is a B-cell neoplasm of lymphocytes, plasmacytoid lymphocytes and plasma cells[1][2]
- Heterogenous clinical and pathological presentation[1]
- Disseminated lymphoproliferative disorder is present in most patients at diagnosis[1][2][3]
- It produces truncated monoclonal gamma (g) immunoglobulin (IgG) heavy chain that is incapable of associating with light chains[2]
- Have concomitant autoimmune disease (mostly rheumatoid arthritis)
- Three clusters of γ-HCD patients are identified:
- In around 60% of cases, γ-HCD is associated to disseminated lymphoma and patients typically have poor condition.
- In 25% of patients, γ-HCD is associated to localized lymphoma, affecting bone marrow, skin, thyroid, parotid, gastrointestinal or oropharynx tract (MALT lymphoma)
- In 15% of patients, γ-HCD is associated with autoimmune disease, mainly RA[4]
Synonyms / Terminology
- Franklin disease[5]/ γHCD
Epidemiology / Prevalence
- Incidence: Very rare, till date, ~only 200 cases have been reported in the literature[6]
- Median age: 68 years (range, 42–87 years)[7]
- Slight female predominance[3]
Clinical Features
Put your text here and fill in the table (Instruction: Can include references in the table. Do not delete table.)
| Signs and Symptoms | EXAMPLE: Asymptomatic (incidental finding on complete blood counts)
EXAMPLE: B-symptoms (weight loss, fever, night sweats) EXAMPLE: Fatigue EXAMPLE: Lymphadenopathy (uncommon) |
| Laboratory Findings | EXAMPLE: Cytopenias
EXAMPLE: Lymphocytosis (low level) |
editv4:Clinical FeaturesThe content below was from the old template. Please incorporate above.
Signs & Symptoms
- Anorexia
- Fever
- Weakness
- Weight loss
- Recurrent bacterial infections
- Concomitant autoimmune disorder
- Rheumatoid arthritis
- Myasthenia Gravis
- Autoimmune cytopenia
- Systemic Lupus Erythematosus
- Thyroiditis
- Vasculitis
- Wasting
- Sjögren syndrome
- Thrombocytopenia
- Autoimmune hemolytic anemia
Laboratory Findings
- Anemia
- Thrombocytopenia
Molecular Biology and Genetics
- 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[2][8]
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Sites of Involvement
- Bone marrow
- Peripheral blood
- Spleen
- Liver
- Lymph nodes
- Waldeyer ring
- Gastrointestinal tract
- Extranodal sites
Morphologic Features
- Mixed proliferation of various cell types:
- Lymphocytes
- Plasmacytoid lymphocytes
- Plasma cells
- Scattered immunoblasts
- Reed–Sternberg cells
- Eosinophils and histiocytes
- Vascular proliferation may give rise to the histologic differential diagnosis of Hodgkin’s lymphoma or certain forms of T-cell lymphoma
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Immunophenotype
| Finding | Marker |
|---|---|
| Positive (B-cell lineage marker) | CD19, CD20, CD79a, IgG (cytoplasmic) without light chain |
| Positive-Plasmacytoid cells | MUM1/IRF4 |
| Positive-Plasma cells | CD38, CD138 |
| Negative | CD5, CD10 |
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Chromosomal Rearrangements (Gene Fusions)
Put your text here and fill in the table
| Chromosomal Rearrangement | Genes in Fusion (5’ or 3’ Segments) | Pathogenic Derivative | Prevalence | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|
| EXAMPLE: t(9;22)(q34;q11.2) | EXAMPLE: 3'ABL1 / 5'BCR | EXAMPLE: der(22) | EXAMPLE: 20% (COSMIC)
EXAMPLE: 30% (add reference) |
Yes | No | Yes | EXAMPLE:
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). |
editv4:Chromosomal Rearrangements (Gene Fusions)The content below was from the old template. Please incorporate above.
- No consistent gene fusions[9]
editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).Please incorporate this section into the relevant tables found in:
- Chromosomal Rearrangements (Gene Fusions)
- Individual Region Genomic Gain/Loss/LOH
- Characteristic Chromosomal Patterns
- Gene Mutations (SNV/INDEL)
- N/A
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Individual Region Genomic Gain / Loss / LOH
Put your text here and fill in the table (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.)
| Chr # | Gain / Loss / Amp / LOH | Minimal Region Genomic Coordinates [Genome Build] | Minimal Region Cytoband | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|
| EXAMPLE:
7 |
EXAMPLE: Loss | EXAMPLE:
chr7:1- 159,335,973 [hg38] |
EXAMPLE:
chr7 |
Yes | Yes | No | EXAMPLE:
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). |
| EXAMPLE:
8 |
EXAMPLE: Gain | EXAMPLE:
chr8:1-145,138,636 [hg38] |
EXAMPLE:
chr8 |
No | No | No | EXAMPLE:
Common recurrent secondary finding for t(8;21) (add reference). |
editv4:Genomic Gain/Loss/LOHThe content below was from the old template. Please incorporate above.
- No consistent chromosomal gains or losses reported.
- A single case report of trisomy of chromosome 7[11]
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Characteristic Chromosomal Patterns
Put your text here (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.)
| Chromosomal Pattern | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|
| EXAMPLE:
Co-deletion of 1p and 18q |
Yes | No | No | EXAMPLE:
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). |
editv4:Characteristic Chromosomal Aberrations / PatternsThe content below was from the old template. Please incorporate above.
- No consistent pattern reported
Gene Mutations (SNV / INDEL)
Put your text here and fill in the table (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.)
| Gene; Genetic Alteration | Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) | Prevalence (COSMIC / TCGA / Other) | Concomitant Mutations | Mutually Exclusive Mutations | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
|---|---|---|---|---|---|---|---|---|
| EXAMPLE: TP53; Variable LOF mutations
EXAMPLE: EGFR; Exon 20 mutations EXAMPLE: BRAF; Activating mutations |
EXAMPLE: TSG | EXAMPLE: 20% (COSMIC)
EXAMPLE: 30% (add Reference) |
EXAMPLE: IDH1 R123H | EXAMPLE: EGFR amplification | EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference).
|
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.
Epigenomic Alterations
- No recurrent epigenomic alterations have been reported.
Genes and Main Pathways Involved
Put your text here and fill in the table (Instructions: Can include references in the table. Do not delete table.)
| Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
|---|---|---|
| EXAMPLE: BRAF and MAP2K1; Activating mutations | EXAMPLE: MAPK signaling | EXAMPLE: Increased cell growth and proliferation |
| EXAMPLE: CDKN2A; Inactivating mutations | EXAMPLE: Cell cycle regulation | EXAMPLE: Unregulated cell division |
| EXAMPLE: KMT2C and ARID1A; Inactivating mutations | EXAMPLE: Histone modification, chromatin remodeling | EXAMPLE: Abnormal gene expression program |
editv4:Genes and Main Pathways InvolvedThe content below was from the old template. Please incorporate above.
- N/A
Genetic Diagnostic Testing Methods
- Immunofixation (IF) is must and gold standard
- Serum Protein Electrophoresis (SPEP)
- Urine Electrophoresis
- Morphology and immunophenotyping
- MALDI-TOF MS could greatly improve the recognition of HCD because it directly detects the light chains and heavy chains and provides structural information about the proteins.
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Familial Forms
- None reported
Additional Information
Some cases of gamma-HCD (γ-HCD) are concurrent with other lymphoid neoplasm have been reported in the literature and are listed below; treatment option varies with concurrent neoplasm
- Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL)
- DLBCL-diffuse large B cell Lymphoma
- LCPD-lymphoplasma cell proliferative disorder
- Lymphoplasmacytic Lymphoma (LPL)
- MALT -mucosa-associated lymphoid tissue
- MDS-myelodysplastic syndrome
- MGUS-monoclonal gammopathy of undetermined Significance
- SDRPSBCL-splenic diffuse red pulp small B-cell lymphoma
- SMZL-splenic marginal zone lymphoma
- T-LGLL-T-cell large granular lymphocytic leukemia
editUnassigned ReferencesThe following referenees were placed in the header. Please place them into the appropriate locations in the text.
Links
- None
References
(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. 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.)
- ↑ 1.0 1.1 1.2 Fermand, J. P.; et al. (1989-11). "Gamma heavy chain "disease": heterogeneity of the clinicopathologic features. Report of 16 cases and review of the literature". Medicine. 68 (6): 321–335. ISSN 0025-7974. PMID 2509855. Check date values in:
|date=(help) - ↑ 2.0 2.1 2.2 2.3 2.4 Ramasamy, I.; et al. (2018). "Two Cases of γ-Heavy Chain Disease and a Review of the Literature". Case Reports in Hematology. 2018: 4832619. doi:10.1155/2018/4832619. ISSN 2090-6560. PMC 6109557. PMID 30186642.
- ↑ 3.0 3.1 3.2 Wahner-Roedler, Dietlind L.; et al. (2003-07). "Gamma-heavy chain disease: review of 23 cases". Medicine. 82 (4): 236–250. doi:10.1097/01.md.0000085058.63483.7f. ISSN 0025-7974. PMID 12861101. Check date values in:
|date=(help) - ↑ Danic, Gwenvaël; et al. (2021-03-17). "Gamma heavy chain disease associated with rheumatoid arthritis: a case report". Journal of Medical Case Reports. 15 (1): 121. doi:10.1186/s13256-021-02696-7. ISSN 1752-1947. PMC 7968189 Check
|pmc=value (help). PMID 33726782 Check|pmid=value (help). - ↑ Franklin, E. C.; et al. (1964-09). "HEAVY CHAIN DISEASE- A NEW DISORDER OF SERUM GAMMA-GLOBULINS : REPORT OF THE FIRST CASE". The American Journal of Medicine. 37: 332–350. doi:10.1016/0002-9343(64)90191-3. ISSN 0002-9343. PMID 14209281. Check date values in:
|date=(help) - ↑ 6.0 6.1 6.2 Munshi, Nikhil C.; et al. (2008-04-24). "Case records of the Massachusetts General Hospital. Case 13-2008. A 46-year-old man with rheumatoid arthritis and lymphadenopathy". The New England Journal of Medicine. 358 (17): 1838–1848. doi:10.1056/NEJMcpc0800959. ISSN 1533-4406. PMID 18434654.
- ↑ Zhou, Hebing; et al. (2016-06). "T cell receptor rearrangements in a patient with γ-heavy chain disease: A case report". Oncology Letters. 11 (6): 4147–4151. doi:10.3892/ol.2016.4515. ISSN 1792-1074. PMC 4888291. PMID 27313757. Check date values in:
|date=(help) - ↑ 8.0 8.1 Goossens, T.; et al. (1998-03-03). "Frequent occurrence of deletions and duplications during somatic hypermutation: implications for oncogene translocations and heavy chain disease". Proceedings of the National Academy of Sciences of the United States of America. 95 (5): 2463–2468. doi:10.1073/pnas.95.5.2463. ISSN 0027-8424. PMC 19376. PMID 9482908.CS1 maint: PMC format (link)
- ↑ Witzig, Thomas E.; et al. (2002-06). "Heavy chain disease". Current Treatment Options in Oncology. 3 (3): 247–254. doi:10.1007/s11864-002-0014-3. ISSN 1527-2729. PMID 12057070. Check date values in:
|date=(help) - ↑ 10.0 10.1 Singer, Sara; et al. (2020-08). "Heavy Lifting: Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders". Clinical Lymphoma, Myeloma & Leukemia. 20 (8): 493–498. doi:10.1016/j.clml.2020.02.020. ISSN 2152-2669. PMID 32245744 Check
|pmid=value (help). Check date values in:|date=(help) - ↑ O'Conor, G. T.; et al. (1985-02-01). "Gamma heavy chain disease: report of a case associated with trisomy of chromosome 7". Cancer Genetics and Cytogenetics. 15 (1–2): 1–5. doi:10.1016/0165-4608(85)90125-6. ISSN 0165-4608. PMID 3917846.
- ↑ Mrosewski, Ingo; et al. (2020-01-01). "Gamma Heavy Chain Disease - Diagnostic Challenges in an Unusual Case and a Brief Synopsis of the Current Literature". Clinical Laboratory. 66 (1). doi:10.7754/Clin.Lab.2019.190623. ISSN 1433-6510. PMID 32013371 Check
|pmid=value (help). - ↑ Thoren, Katie L.; et al. (2020-03). "Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry". Clinical Biochemistry. 77: 57–61. doi:10.1016/j.clinbiochem.2019.12.010. ISSN 1873-2933. PMC 7046309 Check
|pmc=value (help). PMID 31884198. Check date values in:|date=(help) - ↑ Ho, Y. H.; et al. (2014-08). "Gamma heavy chain disease: cytological diagnosis of a rare lymphoid malignancy facilitated by correlation with key laboratory findings". Cytopathology: Official Journal of the British Society for Clinical Cytology. 25 (4): 270–273. doi:10.1111/cyt.12126. ISSN 1365-2303. PMID 25180407. Check date values in:
|date=(help)
Notes
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*Citation of this Page: “Gamma heavy chain disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 09/6/2024, https://ccga.io/index.php/HAEM5:Gamma_heavy_chain_disease.
Other Sections
Gene Mutations (SN V/INDEL)
- g-HCD lacks MYD88 L265p mutation associated with lymphoplasmacytic lymphoma, hence gHCD should no longer be considered a variant of LPL[1]
- Deletions and insertions account for approximately 6% of somatic point mutations introduced into rearranged VH region genes of germinal B cells[2].
- No sequencing data is available till date.
- ↑ Hamadeh, Fatima; et al. (2014-09). "Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma". Haematologica. 99 (9): e154–155. doi:10.3324/haematol.2014.108688. ISSN 1592-8721. PMC 4562547. PMID 24859878. Check date values in:
|date=(help) - ↑ Alexander, A.; et al. (1988-10-XX). "Gamma heavy chain disease in man. Genomic sequence reveals two noncontiguous deletions in a single gene". The Journal of Clinical Investigation. 82 (4): 1244–1252. doi:10.1172/JCI113722. ISSN 0021-9738. PMC 442675. PMID 3139711. Check date values in:
|date=(help)CS1 maint: PMC format (link)