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|Profile Name||SF3B1 P409Q|
|Gene Variant Detail|
|Relevant Treatment Approaches|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|SF3B1 mutant||myelofibrosis||not applicable||N/A||Guideline||Diagnostic||SF3B1 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org).||detail...|
|SF3B1 mutant||uveal melanoma||not applicable||N/A||Guideline||Risk Factor||SF3B1 mutations are associated with medium risk of developing distant metastasis in uveal melanoma (NCCN.org).||detail...|
|SF3B1 mutant||chronic lymphocytic leukemia||predicted - sensitive||Sudemycin D1||Preclinical - Patient cell culture||Actionable||In a preclinical study, Sudemycin D1 treatment resulted in increased cytotoxicity (p<0.05) in chronic lymphocytic leukemia cells derived from patients harboring mutations in SF3B1 (n=14) or other RNA splicing/processing genes (n=8) compared to cells derived from patients without mutations (n=10) in culture (PMID: 26068951).||26068951|
|SF3B1 mutant||myelodysplastic syndrome||not applicable||N/A||Clinical Study||Prognostic||In multiple clinical studies, SF3B1 mutations were associated with better overall survival in patients with myelodysplastic syndrome (PMID: 21998214, PMID: 22096241, PMID: 24220272), but may not have independent prognostic significance (PMID: 22096241).||22096241 21998214 24220272|
|SF3B1 mutant||chronic lymphocytic leukemia||predicted - sensitive||Ibrutinib + Sudemycin D1||Preclinical - Patient cell culture||Actionable||In a preclinical study, Sudemycin D1 and Imbruvica (ibrutinib) combination treatment resulted in enhanced cytotoxicity in chronic lymphocytic leukemia cells derived from patients harboring SF3B1 mutations in culture (PMID: 26068951).||26068951|
|SF3B1 mutant||chronic lymphocytic leukemia||predicted - sensitive||Sudemycin D6||Preclinical - Pdx||Actionable||In a preclinical study, Sudemycin D6 treatment reduced tumor cells in the spleen and peripheral blood in patient-derived xenograft (PDX) models of chronic lymphocytic leukemia harboring SF3B1 mutations (PMID: 26068951).||26068951|
|SF3B1 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|
|SF3B1 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, SF3B1 mutations are also associated with inferior myelofibrosis-free survival (NCCN.org).||detail...|
|Clinical Trial||Phase||Therapies||Title||Recruitment Status|