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|Profile Name||U2AF1 mutant|
|Gene Variant Detail|
|Relevant Treatment Approaches|
|Molecular Profile||Indication/Tumor Type||Response Type||Relevant Treatment Approaches||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|U2AF1 mutant||essential thrombocythemia||not applicable||N/A||Guideline||Prognostic||The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia, RUNX1 mutations are also associated with inferior leukemia-free survival (NCCN.org).||detail...|
|U2AF1 mutant||myelodysplastic syndrome||not applicable||N/A||Clinical Study||Emerging||In multiple clinical studies, the presence of U2AF1 mutations was associated with a trend toward risk of progression to acute myeloid leukemia, however, the prognostic significance of U2AF1 mutations is still unclear (PMID: 25465125, PMID: 22158538, PMID: 22389253).||22158538 22389253 25465125|
|U2AF1 mutant||myelodysplastic syndrome||not applicable||N/A||Guideline||Prognostic||U2AF1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).||detail...|
|U2AF1 mutant||acute myeloid leukemia||predicted - sensitive||GSK3203591||Preclinical - Patient cell culture||Actionable||In a preclinical study, patient-derived acute myeloid leukemia cell lines harboring mutations in U2AF1 (n=3), SRSF2 (n=9), or SF3B1 (n=4) demonstrated increased sensitivity to GSK3203591 compared to spliceosomal wild-type cell lines in culture (PMID: 31408619).||31408619|
|U2AF1 mutant||myelofibrosis||not applicable||N/A||Guideline||Prognostic||U2AF1 mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).||detail...|