Compendium of Cancer Genome Aberrations

HAEM5:Classic Hodgkin lymphoma: Difference between revisions

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{{DISPLAYTITLE:Classic Hodgkin lymphoma}}
{{DISPLAYTITLE:Classic Hodgkin lymphoma}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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


Patricia V. Hernandez, M.D., Washington University School of Medicine
Xiaolin Hu, Ph.D., GeneDx
==WHO Classification of Disease==
==WHO Classification of Disease==


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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|2p
7
|gain
|<span class="blue-text">EXAMPLE:</span> Loss
|2p13
|<span class="blue-text">EXAMPLE:</span>
|REL
chr7
|P
|<span class="blue-text">EXAMPLE:</span>
|No
Unknown
|REL amplification promotes NF-κB signaling activation (PMID: 19380639)
|<span class="blue-text">EXAMPLE:</span> D, P
|<span class="blue-text">EXAMPLE:</span> No
|<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).
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|9p
8
|Gain
|<span class="blue-text">EXAMPLE:</span> Gain
|9p24.1
|<span class="blue-text">EXAMPLE:</span>
|CD274 (PD-L1), PDCD1LG2 (PD-L2), JAK2
chr8
|T, P
|<span class="blue-text">EXAMPLE:</span>
|Yes (PMID:20628145)
Unknown
|9p24.1 amplification drives PD-L1/PD-L2 overexpression, relevant for immune checkpoint inhibitor therapy (PMID: 20628145, 27069084)
|<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>
|17p
17
|Gain
|<span class="blue-text">EXAMPLE:</span> Amp
|17q21
|<span class="blue-text">EXAMPLE:</span>
|MAP3K14
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|P
|<span class="blue-text">EXAMPLE:</span>
|No
''ERBB2''
|MAP3K14 (NIK) gain activates alternative NF-κB signaling (PMID: 19380639)
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|<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.
|-
|-
|
|6q
|
|Loss
|
|6q23-24
|
|TNFAIP3
|
|P
|
|No
|
|Loss of TNFAIP3 (A20) disrupts NF-κB regulation (PMID: 19380639)
|}
|}


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!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|Aneuploidy, hypertetraploidy
 
Co-deletion of 1p and 18q
|Yes
|No
|No
|No
|unkonwn
|<span class="blue-text">EXAMPLE:</span>
|unknown
 
|Common in HRS cells; contributes to genomic instability (PMID: 7632954)
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}


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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|TNFAIP3
 
|Inactivating mutation
<br />
|Tumor Suppressor Gene
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|Recurrent (5-20%)
|<span class="blue-text">EXAMPLE:</span> Oncogene
|P
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|No
|<span class="blue-text">EXAMPLE:</span> T
|Loss of function mutations disrupt NF-κB regulation (PMID: 19380639)
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|-
|<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).
|SOCS1
|Frameshift and nonsense mutations
|Tumor Suppressor Gene
|Recurrent (5-20%)
|P
|No
|SOCS1 mutations activate JAK/STAT signaling (PMID: 24531327)
|-
|STAT6
|Missense mutations
|Oncogene
|Recurrent (5-20%)
|P
|No
|STAT6 mutations drive cytokine signaling alterations (PMID: 24531327, 29650799)
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|B2M
<br />
|Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|Tumor Suppressor Gene
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|Rare (<5%)
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|P
|<span class="blue-text">EXAMPLE:</span> P
|No
|
|Loss of MHC class I expression aids immune evasion (PMID: 21368758)
|<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
|CIITA
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|Tumor Suppressor Gene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|Rare (<5%)
|<span class="blue-text">EXAMPLE:</span> T
|P
|
|No
|
|Loss of MHC class II expression aids immune evasion (PMID: 21368758)
|-
|-
|
|XPO1
|
|Missense mutations
|
|Oncogene
|
|Rare (<5%)
|
|Unknown
|
|No
|
|Emerging evidence of role in CHL pathogenesis (PMID: 33686198)
|}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.
|}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.


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