HAEM5:T-prolymphocytic leukaemia: Difference between revisions
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|Mutation/deletion, loss of heterozygosity, or biallelic mutation | |Mutation/deletion, loss of heterozygosity, or biallelic mutation | ||
|Tumor Suppressor Gene | |Tumor Suppressor Gene | ||
|Common | |Common | ||
|D, P, T | |D, P, T | ||
|No | |No | ||
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|''FBXW10'' | |''FBXW10'' | ||
<br /> | <br /> | ||
| | |Loss-of-function | ||
|Tumor Supressor Gene | |Tumor Supressor Gene | ||
|Common | |Common | ||
|Unknown | |Unknown | ||
|No | |No | ||
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|- | |- | ||
|''IL2RG,'' ''JAK1, JAK3, STAT5B'' | |''IL2RG,'' ''JAK1, JAK3, STAT5B'' | ||
| | |Variable activating mutations | ||
|Oncogene | |Oncogene | ||
|Variable based on gene; Recurrent to Common | |Variable based on gene; Recurrent to Common | ||
|D, P, T | |D, P, T | ||
|No | |No | ||
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|- | |- | ||
|''BCOR'' | |''BCOR'' | ||
| | |Loss-of-function | ||
|Tumor Supressor Gene | |Tumor Supressor Gene | ||
|Rare | |Rare | ||
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|- | |- | ||
|''SAMHD1'' | |''SAMHD1'' | ||
| | |Loss-of-function | ||
|Tumor Supressor Gene | |Tumor Supressor Gene | ||
|Recurrent | |Recurrent | ||
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|- | |- | ||
|''CHEK2'' | |''CHEK2'' | ||
| | |Loss-of-function | ||
|Tumor Supressor Gene | |Tumor Supressor Gene | ||
|Rare | |Rare | ||
|Unknown | |Unknown | ||
|No | |No | ||
|''CHEK2'' mutations may indicate a defective DNA damage response and aggressive disease <ref name=":3" /><ref>{{Cite journal|last=Braun|first=Till|last2=Dechow|first2=Annika|last3=Friedrich|first3=Gregor|last4=Seifert|first4=Michael|last5=Stachelscheid|first5=Johanna|last6=Herling|first6=Marco|date=2021|title=Advanced Pathogenetic Concepts in T-Cell Prolymphocytic Leukemia and Their Translational Impact|url=https://pubmed.ncbi.nlm.nih.gov/34869023|journal=Frontiers in Oncology|volume=11|pages=775363|doi=10.3389/fonc.2021.775363|issn=2234-943X|pmc=8639578|pmid=34869023}}</ref> | |''CHEK2'' mutations may indicate a defective DNA damage response and aggressive disease <ref name=":3" /><ref>{{Cite journal|last=Braun|first=Till|last2=Dechow|first2=Annika|last3=Friedrich|first3=Gregor|last4=Seifert|first4=Michael|last5=Stachelscheid|first5=Johanna|last6=Herling|first6=Marco|date=2021|title=Advanced Pathogenetic Concepts in T-Cell Prolymphocytic Leukemia and Their Translational Impact|url=https://pubmed.ncbi.nlm.nih.gov/34869023|journal=Frontiers in Oncology|volume=11|pages=775363|doi=10.3389/fonc.2021.775363|issn=2234-943X|pmc=8639578|pmid=34869023}}</ref> | ||
|- | |- | ||
|''TP53'' | |''TP53'' | ||
| | |Variable inactivating/loss of function mutations | ||
|Tumor Supressor Gene | |Tumor Supressor Gene | ||
|Rare | |Rare | ||
|P (may portend resistance to therapy) | |P (may portend resistance to therapy) | ||
|No | |No | ||
|Mutations in TP53 are less frequent than deletions.<ref name=":9" />May show overexpression of p53 in some cases.<ref name=":7" /> | |Mutations in TP53 are less frequent than deletions.<ref name=":9" />May show overexpression of p53 in some cases.<ref name=":7" /> | ||