Pan-cancer Genomic Analysis of AXL Mutations Reveals a Novel, Recurrent, Functionally Activating AXL W451C Alteration Specific to Myxofibrosarcoma.

doi:10.1097/PAS.0000000000002191

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Article

Pan-cancer Genomic Analysis of AXL Mutations Reveals a Novel, Recurrent, Functionally Activating AXL W451C Alteration Specific to Myxofibrosarcoma.

The American journal of surgical pathology - 1 Jun 2024

Williams Erik A, Vegas Isabella, El-Senduny Fardous F, Zhang Jessica, Mata Douglas A, Hiemenz Matthew C, Hughes Sarah R, Sa Brianna C, Kraft Garrett P, Gorbatov Nicole, Foley-Peres Kathleen, Sanchez Edward Z, Milikowski Clara, Williams Kevin Jon, Ross Jeffrey S, Kurzrock Razelle, Montgomery Elizabeth A, Lombard David B, Kumar Surinder

Abstract excerpt

Myxofibrosarcoma (MFS) is a common soft tissue sarcoma of the elderly that typically shows low tumor mutational burden, with mutations in TP53 and in genes associated with cell cycle checkpoints ( RB1 , CDKN2A ). Unfortunately, no alterations or markers specific to MFS have been identified and, as a consequence, there are no effective targeted therapies. The receptor tyrosine kinase AXL, which drives cellular...

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Identifiers

PMID: 38369783
DOI: 10.1097/PAS.0000000000002191
PMCID: PMC11093512

Genes

AXL
CDKN2A
RB1
TP53

Variants

Provenance

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