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

[unchecked revision][unchecked revision]
Line 97: Line 97:
!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
Line 121: Line 113:
|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
Line 137: Line 129:
|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: ARID1A
|9p
|Loss
|Loss (deletion)
|unspecified (del/trunc)
|9p21.3 (~ chr9:21,900,000‑22,200,000)
|ARID1A
|CDKN2A, CDKN2B
|P
|P
|No
|No
|Deleted in ~28% of cases. Indicates epigenetic/chromatin modifier pathway involvement<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: FAS
|10q
|Loss
|Loss
|unspecified (biallelic)
|10q24.1
|FAS
|FAS
|P
|P
Line 153: Line 145:
|Deletion in ~22% of cases. Loss of apoptosis regulator; may contribute to immune‑escape<ref name=":0" />
|Deletion in ~22% of cases. Loss of apoptosis regulator; may contribute to immune‑escape<ref name=":0" />
|-
|-
|Focal deletion: PDCD1
|15q
|Gain (arm‐level)
|15q (approx chr15:30,000,000‑102,000,000)
|Multiple genes on 15q (unspecified)
|P
|No
|Amplification in ~33% of cases.  Likely reflects tumour evolution rather than diagnostic biomarker<ref name=":0" />
|-
|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==