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 | ||
|- | |- | ||
| | |1p | ||
|Loss | |Loss | ||
| | |1p36.11 | ||
| | |ARID1A | ||
|P | |P | ||
|No | |No | ||
| | |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" /> | ||
|- | |- | ||
| | |2q | ||
| | |Loss | ||
| | |2q37.3 | ||
| | |PDCD1 | ||
|P | |P | ||
|No | |No | ||
| | |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. | ||
|- | |- | ||
| | |9p | ||
|Loss | |Loss (deletion) | ||
| | |9p21.3 (~ chr9:21,900,000‑22,200,000) | ||
| | |CDKN2A, CDKN2B | ||
|P | |P | ||
|No | |No | ||
| | |High‐frequency homozygous or biallelic deletion (~61% of cases; 45% biallelic) in PCGDTCL. (PMC) Suggests aggressive biology, prognostic marker candidate<ref name=":0" /> | ||
|- | |- | ||
| | |10q | ||
|Loss | |Loss | ||
| | |10q24.1 | ||
|FAS | |FAS | ||
|P | |P | ||
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|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" /> | ||
|- | |- | ||
| | |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 | ||
| | |18q (arm level; no precise minimal region specified) | ||
| | |Putative tumour suppressors (unspecified) | ||
|P | |P | ||
|No | |No | ||
| | |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== | ||