Compendium of Cancer Genome Aberrations

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

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{{DISPLAYTITLE:Primary cutaneous gamma/delta T-cell lymphoma}}
{{DISPLAYTITLE:Primary cutaneous gamma/delta T-cell 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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==Gene Rearrangements==
==Gene Rearrangements==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
{| class="wikitable"
|'''Gene / Fusion'''
|'''Partner Gene (for fusion)'''
|'''Genetic Alteration & Molecular  Pathogenesis'''
|'''Tumour Suppressor / Oncogene / Other'''
|'''Prevalence*'''
|'''D / P / T'''
|'''Established clinical significance per guidelines?'''
|'''Clinical relevance / Other notes'''
|'''Reference (PubMed)'''
|-
|'''CDKN2A'''
|—
|Homozygous or biallelic deletion → loss of  p16^INK4A/p14^ARF function (cell‑cycle control)
|Tumour suppressor
|'''Common''' (>20%) (~61% in cohort)  (PubMed)
|P
|No
|High‐frequency  deletion, suggests aggressive biology and may be a prognostic marker
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''ARID1A'''
|—
|Deletion/truncating mutation → loss of chromatin‑remodelling  function
|Tumour suppressor
|Recurrent (5‑20%) (~28%) (PMC)
|Other / P
|No
|Indicates involvement of epigenetic/chromatin pathways in  PCGDTCL
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''FAS'''
|—
|Focal or biallelic deletion → loss of apoptosis  signalling via FAS‑FASL pathway
|Tumour suppressor / apoptotic regulator
|Recurrent (5‑20%) (~22%) (PMC)
|Other / P
|No
|Loss of FAS may contribute to immune‐escape of malignant γδ T‑cells
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''PDCD1'''
|—
|Deletion → loss of PD‑1 (immune‐checkpoint) regulatory  function
|Tumour suppressor / immune‑regulator
|Recurrent (5‑20%) (~22%) (PMC)
|Other / P
|No
|Suggests immune‐escape  mechanism; potential implications for checkpoint therapy though unproven
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''STAT5B'''
|—
|Activating missense (e.g., N642H) → constitutive STAT5B  signalling (JAK/STAT pathway)
|Oncogene
|Recurrent (5‑20%) (JAK/STAT mutations ~21%) (PubMed)
|T / P
|No
|JAK/STAT pathway dependency; early data suggest JAK‐inhibitor sensitivity in  analogous T‑cell neoplasms; investigational in PCGDTCL
|<nowiki>PMID 25586472</nowiki> (PubMed)
|-
|'''STAT3'''
|—
|Activating missense → constitutive STAT3 signalling  (JAK/STAT cascade)
|Oncogene
|Rare (<5%) to Recurrent (~5‑20%) (PubMed)
|T / P
|No
|Part of JAK/STAT alterations; less frequent than STAT5B  in PCGDTCL
|<nowiki>PMID 25586472</nowiki> (PubMed)
|-
|'''JAK3'''
|—
|Activating mutation (e.g., R657W) → JAK3 tyrosine kinase  activation (JAK/STAT pathway)
|Oncogene
|Rare (<5%) (PMC)
|T
|No
|Supports JAK/STAT pathway involvement; therapeutic  relevance remains investigational in this disease
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''KRAS'''
|—
|Activating hotspot mutations (e.g., G12D, Q61H) →  RAS/MAPK pathway activation
|Oncogene
|Recurrent (5‑20%) (PubMed)
|T / P
|No
|MAPK pathway potentially targetable; mutations associated  with poorer outcome in the cohort studied
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''NRAS'''
|—
|Activating hotspot mutation → RAS/MAPK pathway activation
|Oncogene
|Rare (<5%) to Recurrent (~5‑20%) (PMC)
|T / P
|No
|Part of same pathway as KRAS though less common
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''MYC'''
|—
|Activating missense mutation (e.g., P74L) → MYC pathway  up‑regulation
|Oncogene
|Rare (<5%) (PMC)
|P / T
|No
|MYC pathway involvement may contribute to more aggressive  phenotype; direct targeting not yet established
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''MYCN'''
|—
|Activating mutation (e.g., G34R) → MYCN pathway  activation
|Oncogene
|Rare (<5%) (PMC)
|P / T
|No
|Highlights involvement of MYC family beyond MYC itself in  PCGDTCL
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''Arm‑level chromosomal alterations (e.g., 9p,  18q deletions; 1q, 7q,15q gains)'''
|—
|Copy number loss or gain → altered gene dosage of tumour  suppressors/oncogenes
|Other / chromosomal alteration
|Recurrent (5‑20%) (9p del ~22%, 18q del ~22%; 1q/7q/15q  gains ~33‑39%) (PMC)
|D / P
|No
|These structural changes suggest genomic instability and  aggressive biology; may help risk stratification though not diagnostic per se
|<nowiki>PMID 32286303</nowiki> (PMC)
|-
|'''Fusion: FYN :: (probable partner TRAF3IP2)'''
|TRAF3IP2
|Structural alteration – deletion/exon8 deletion → (in  other T‑cell lymphomas) FYN::TRAF3IP2 fusion leading to SRC‑family kinase  activation; in this PCGDTCL case FYN exon8 deletion noted (PubMed)
|Oncogene / Other
|Rare (<5%) (single case reported)
|T
|No
|Very recently described; may represent novel  driver/target; further cases needed
|<nowiki>PMID 39412302</nowiki> (PubMed)
|-
|'''Fusion: PCM1 :: JAK2'''
|PCM1
|Fusion → juxtaposition of dimerization domain of PCM1  with kinase domain of JAK2 → constitutive JAK2 activation
|Oncogene
|Rare (<5%) (single documented PCGDTCL case) (PubMed)
|T
|No
|Known in other T‑cell and myeloid neoplasms; in PCGDTCL  this double‐hit  case had PCM1::JAK2 + TBL1XR1::TP63 fusion; patient refractory to JAK  inhibitor
|<nowiki>PMID 37308177</nowiki> (PubMed)
|-
|'''Fusion: TBL1XR1 :: TP63'''
|TBL1XR1
|Fusion → truncation/overexpression of ΔNp63 form →  oncogenic p63 signalling
|Oncogene / Other
|Rare (<5%) (same single case) (PubMed)
|P / T
|No
|Associated with aggressive behaviour in T‑cell lymphomas;  in the reported PCGDTCL case contributed to aggressive course and JAK  inhibitor resistance
|<nowiki>PMID 37308177</nowiki> (PubMed)
|}
{| class="wikitable sortable"
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|-
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<nowiki>*</nowiki>''Citation of this Page'': “Primary cutaneous gamma/delta T-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Primary_cutaneous_gamma/delta_T-cell_lymphoma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Primary cutaneous gamma/delta T-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Primary_cutaneous_gamma/delta_T-cell_lymphoma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases P]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases P]]
Retrieved from "https://test.ccga.io/index.php/HAEM5:Primary_cutaneous_gamma/delta_T-cell_lymphoma"