Compendium of Cancer Genome Aberrations

HAEM5:Primary cutaneous gamma/delta T-cell lymphoma: Difference between revisions

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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|9p
|1p
|Loss (deletion)
|9p21.3 (~ chr9:21,900,000‑22,200,000)
|CDKN2A, CDKN2B
|P
|No
|High‐frequency  homozygous or biallelic deletion (~61% of cases; 45% biallelic) in PCGDTCL. (PMC)  Suggests aggressive biology, prognostic marker candidate<ref name=":0" />
|-
|18q
|Loss
|Loss
|18q (arm level; no precise minimal region specified)
|1p36.11
|Putative tumour suppressors (unspecified)
|ARID1A
|P
|P
|No
|No
|Recurrent deletion ~22% in PCGDTCL cohort. May reflect genomic instability and poor outcome<ref name=":0" />
|Deleted in ~28% of cases. Indicates epigenetic/chromatin modifier pathway involvement<ref name=":0" />
|-
|-
|1q
|1q
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|Amplification in ~33% of cases. Potential gene dosage effect; specific driver gene not yet defined<ref name=":0" />
|Amplification in ~33% of cases. Potential gene dosage effect; specific driver gene not yet defined<ref name=":0" />
|-
|-
|15q
|2q
|Gain (arm‐level)
|Loss
|15q (approx chr15:30,000,000‑102,000,000)
|2q37.3
|Multiple genes on 15q (unspecified)
|PDCD1
|P
|P
|No
|No
|Amplification in ~33% of cases. Likely reflects tumour evolution rather than diagnostic biomarker<ref name=":0" />
|Deletion in ~22% of cases. Immune checkpoint gene loss; potential therapeutic‑escape mechanism<ref name=":0" />
|-
|-
|7q
|7q
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|Amplification in ~39% of cases. Suggests MAPK/other pathway involvement but specific gene not yet defined.
|Amplification in ~39% of cases. Suggests MAPK/other pathway involvement but specific gene not yet defined.
|-
|-
|Focal deletion: CDKN2A
|9p
|Loss (homozygous/biallelic)
|Loss (deletion)
|within 9p21.3, CDKN2A region
|9p21.3 (~ chr9:21,900,000‑22,200,000)
|CDKN2A
|CDKN2A, CDKN2B
|P
|P
|No
|No
|From GISTIC analysis: CDKN2A deletion in 61% of samples,  45% biallelic.  Key focal region in PCGDTCL<ref name=":0" />
|High‐frequency  homozygous or biallelic deletion (~61% of cases; 45% biallelic) in PCGDTCL. (PMC) Suggests aggressive biology, prognostic marker candidate<ref name=":0" />
|-
|-
|Focal deletion: ARID1A
|10q
|Loss
|Loss
|unspecified (del/trunc)
|10q24.1
|ARID1A
|FAS
|P
|P
|No
|No
|Deleted in ~28% of cases. Indicates epigenetic/chromatin modifier pathway involvement<ref name=":0" />
|Deletion in ~22% of cases. Loss of apoptosis regulator; may contribute to immune‑escape<ref name=":0" />
|-
|-
|Focal deletion: FAS
|15q
|Loss
|Gain (arm‐level)
|unspecified (biallelic)
|15q (approx chr15:30,000,000‑102,000,000)
|FAS
|Multiple genes on 15q (unspecified)
|P
|P
|No
|No
|Deletion in ~22% of cases. Loss of apoptosis regulator; may contribute to immune‑escape<ref name=":0" />
|Amplification in ~33% of cases. Likely reflects tumour evolution rather than diagnostic biomarker<ref name=":0" />
|-
|-
|Focal deletion: PDCD1
|18q
|Loss
|Loss
|unspecified
|18q (arm level; no precise minimal region specified)
|PDCD1
|Putative tumour suppressors (unspecified)
|P
|P
|No
|No
|Deletion in ~22% of cases. Immune checkpoint gene loss; potential therapeutic‑escape mechanism<ref name=":0" />
|Recurrent deletion ~22% in PCGDTCL cohort. May reflect genomic instability and poor outcome<ref name=":0" />
|}
|}
==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
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|T / P: Therapeutic potential (JAK/STAT inhibition);  Prognostic implication (pathway addiction/resistance)
|T / P: Therapeutic potential (JAK/STAT inhibition);  Prognostic implication (pathway addiction/resistance)
|No
|No
|Mutant STAT5B (especially N642H) shown to induce T‑cell neoplasia in models; in PCGDTCL JAK/STAT addiction shown clinically <ref name=":1" /><ref name=":3">{{Cite journal|last=Zhang|first=Yue|last2=Yescas|first2=Julia A.|last3=Tefft|first3=Kristy|last4=Ng|first4=Spencer|last5=Qiu|first5=Kevin|last6=Wang|first6=Erica B.|last7=Akhtar|first7=Shifa|last8=Walker|first8=Addie|last9=Welborn|first9=Macartney|date=2025-04-15|title=Addiction of primary cutaneous γδ T cell lymphomas to JAK/STAT signaling|url=https://pubmed.ncbi.nlm.nih.gov/40231467|journal=The Journal of Clinical Investigation|volume=135|issue=8|pages=e180417|doi=10.1172/JCI180417|issn=1558-8238|pmc=11996904|pmid=40231467}}</ref>
|Mutant STAT5B (especially N642H) shown to induce T‑cell neoplasia in models; in PCGDTCL JAK/STAT addiction shown clinically <ref name=":1" /><ref name=":3">{{Cite journal|last=Zhang|first=Yue|last2=Yescas|first2=Julia A.|last3=Tefft|first3=Kristy|last4=Ng|first4=Spencer|last5=Qiu|first5=Kevin|last6=Wang|first6=Erica B.|last7=Akhtar|first7=Shifa|last8=Walker|first8=Addie|last9=Welborn|first9=Macartney|date=2025-04-15|title=Addiction of primary cutaneous γδ T cell lymphomas to JAK/STAT signaling|url=https://pubmed.ncbi.nlm.nih.gov/40231467|journal=The Journal of Clinical Investigation|volume=135|issue=8|pages=e180417|doi=10.1172/JCI180417|issn=1558-8238|pmc=11996904|pmid=40231467}}</ref>
|-
|-
|'''STAT3'''
|'''STAT3'''
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