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Profile Name SF3B1 A959V
Gene Variant Detail

SF3B1 A959V (unknown)

Relevant Treatment Approaches

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
SF3B1 E862K 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, including 1 cell line harboring SF3B1 E862K (PMID: 26068951). 26068951
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 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 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 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 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...
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 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 K666N B-cell acute lymphoblastic leukemia sensitive E7820 Preclinical - Cell culture Actionable In a preclinical study, a B-cell acute lymphoblastic leukemia cell line engineered to express SF3B1 K666N from the endogenous locus demonstrated increased sensitivity to E7820 induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K666N B-cell acute lymphoblastic leukemia sensitive Indisulam Preclinical - Cell culture Actionable In a preclinical study, a B-cell acute lymphoblastic leukemia cell line engineered to express SF3B1 K666N from the endogenous locus demonstrated increased sensitivity to Indisulam (E7070) induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K666N acute myeloid leukemia sensitive E7820 Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line engineered to express SF3B1 K666N from the endogenous locus demonstrated increased sensitivity to E7820 induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K666N acute myeloid leukemia sensitive Indisulam Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line engineered to express SF3B1 K666N from the endogenous locus demonstrated increased sensitivity to Indisulam (E7070) induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K666N endometrial cancer sensitive Spliceostatin A Preclinical Actionable In a preclinical study, Spliceostatin A inhibited survival of endometrial cancer cells harboring SF3B1 K666N in culture (PMID: 25424858). 25424858
SF3B1 Y623X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 Y623X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 I704X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 I704X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 K666X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 K666X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 Y765C acute myeloid leukemia sensitive GSK3203591 + MS023 Preclinical - Patient cell culture Actionable In a preclinical study, GSK3203591 and MS023 synergistically inhibited survival of a patient-derived acute myeloid leukemia cell line harboring SF3B1 Y765C in culture (PMID: 31408619). 31408619
SF3B1 T663I 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, including 1 cell line harboring SF3B1 T663I (PMID: 26068951). 26068951
SF3B1 K700E acute myeloid leukemia predicted - sensitive E7820 Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line engineered to express SF3B1 K700E from the endogenous locus demonstrated increased sensitivity to E7820 induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K700E acute myeloid leukemia sensitive Indisulam Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line engineered to express SF3B1 K700E from the endogenous locus demonstrated increased sensitivity to Indisulam (E7070) induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K700E hematologic cancer sensitive E7107 Preclinical - Cell culture Actionable In a preclinical study, mouse cells expressing SF3B1 K700E demonstrated sensitivity to E7107 in culture, resulting in decreased viability of cells (PMID: 27622333). 27622333
SF3B1 K700E acute myeloid leukemia sensitive H3B-8800 Preclinical - Pdx Actionable In a preclinical study, H3B-8800 inhibited aberrant splicing and tumor growth in a cell line xenograft and a patient-derived xenograft (PDX) model of acute myeloid leukemia harboring SF3B1 K700E (PMID: 29457796). 29457796
SF3B1 K700E acute myeloid leukemia sensitive H3B-8800 Preclinical - Cell culture Actionable In a preclinical study, H3B-8800 preferentially inhibited growth of mouse acute myeloid leukemia cells harboring SF3B1 K700E compared to SF3B1 wild-type cells in culture (Blood 2016 128:966). detail...
SF3B1 K700E B-cell acute lymphoblastic leukemia sensitive Indisulam Preclinical - Cell culture Actionable In a preclinical study, a B-cell acute lymphoblastic leukemia cell line engineered to express SF3B1 K700E from the endogenous locus demonstrated increased sensitivity to Indisulam (E7070) induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K700E pancreatic cancer sensitive H3B-8800 Preclinical - Cell culture Actionable In a preclinical study, H3B-8800 inhibited aberrant splicing and preferentially induced apoptosis in pancreatic cancer cells harboring SF3B1 K700E compared to SF3B1 wild-type cell lines in culture (PMID: 29457796). 29457796
SF3B1 K700E pancreatic cancer sensitive Spliceostatin A Preclinical Actionable In a preclinical study, Spliceostatin A inhibited survival of pancreatic cancer cells harboring SF3B1 K700E in culture (PMID: 25424858). 25424858
SF3B1 K700E chronic myeloid leukemia sensitive H3B-8800 Preclinical - Cell line xenograft Actionable In a preclinical study, H3B-8800 inhibited tumor growth in cell line xenograft models of chronic myeloid leukemia harboring SF3B1 K700E while had no effect in SF3B1 wild-type controls (Blood 2016 128:966). detail...
SF3B1 K700E chronic myeloid leukemia sensitive H3B-8800 Preclinical - Cell line xenograft Actionable In a preclinical study, H3B-8800 preferentially induced cell death in a chronic myeloid leukemia cell line expressing SF3B1 K700E in culture, inhibited aberrant splicing and tumor growth in a cell line xenograft model (PMID: 29457796). 29457796
SF3B1 K700E chronic myeloid leukemia sensitive GSK3203591 + MS023 Preclinical - Cell culture Actionable In a preclinical study, MS023 and GSK3203591 synergistically inhibited survival of a chronic myeloid leukemia cell line with knockin SF3B1 K700E in culture (PMID: 31408619). 31408619
SF3B1 K700E B-cell acute lymphoblastic leukemia sensitive E7820 Preclinical - Cell culture Actionable In a preclinical study, a B-cell acute lymphoblastic leukemia cell line engineered to express SF3B1 K700E from the endogenous locus demonstrated increased sensitivity to E7820 induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K700E myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 K700E is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 K700E 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, including 2 cell lines harboring SF3B1 K700E (PMID: 26068951). 26068951
RUNX1 rearrange SF3B1 K700E acute myeloid leukemia sensitive EPZ015666 + MS023 Preclinical - Pdx Actionable In a preclinical study, MS023 and EPZ015666 (GSK3235025) combination treatment reduced tumor burden in a patient-derived xenograft (PDX) model of acute myeloid leukemia cells harboring RUNX1 rearrangement and SF3B1 K700E (PMID: 31408619). 31408619
SF3B1 H662Q B-cell acute lymphoblastic leukemia sensitive Indisulam Preclinical - Cell culture Actionable In a preclinical study, a B-cell acute lymphoblastic leukemia cell line engineered to express SF3B1 H662Q from the endogenous locus demonstrated increased sensitivity to Indisulam (E7070) induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 H662Q B-cell acute lymphoblastic leukemia sensitive E7820 Preclinical - Cell culture Actionable In a preclinical study, a B-cell acute lymphoblastic leukemia cell line engineered to express SF3B1 H662Q from the endogenous locus demonstrated increased sensitivity to E7820 induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
SF3B1 K741N 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, including 1 cell line harboring SF3B1 K741N (PMID: 26068951). 26068951
SF3B1 T663X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 T663X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 R625X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 R625X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 V1078I colorectal cancer resistant E7107 Preclinical - Cell culture Actionable In a preclinical study, SF3B1 V1078I was identified as a recurrent mutation in colorectal cancer cells acquired resistance to E7107 in culture (PMID: 28541300). 28541300
SF3B1 R1074H colorectal cancer resistant E7107 Preclinical - Cell culture Actionable In a preclinical study, SF3B1 R1074H was identified as a recurrent mutation in colorectal cancer cells acquired resistance to E7107 in culture (PMID: 28541300). 28541300
SF3B1 R1074H colorectal cancer resistant H3B-8800 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line expressing SF3B1 R1074H was resistant to H3B-8800 in culture (PMID: 29457796). 29457796
SF3B1 R1074H Advanced Solid Tumor resistant H3B-8800 Preclinical - Cell culture Actionable In a preclinical study, transformed cells overexpressing SF3B1 R1074H were resistant to H3B-8800 in culture (Blood 2016 128:966). detail...
SF3B1 K666E 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, including 1 cell line harboring SF3B1 K666E (PMID: 26068951). 26068951
SF3B1 N626X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 N626X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 R625H 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, including 2 cell lines harboring SF3B1 R625H (PMID: 26068951). 26068951
SF3B1 G742D 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, including 4 cell lines harboring SF3B1 G742D (PMID: 26068951). 26068951
SF3B1 M757T 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, including 1 cell line harboring SF3B1 M757T (PMID: 26068951). 26068951
SF3B1 D781X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 D781X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 V1078A colorectal cancer resistant E7107 Preclinical - Cell culture Actionable In a preclinical study, SF3B1 V1078A was identified as a recurrent mutation in colorectal cancer cells acquired resistance to E7107 in culture (PMID: 28541300). 28541300
SF3B1 G740X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 G740X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 G742X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 G742X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 E622X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 E622X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
SF3B1 H662D 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, including 1 cell line harboring SF3B1 H662D (PMID: 26068951). 26068951
SF3B1 H662X myelodysplastic syndrome not applicable N/A Guideline Prognostic SF3B1 H662X is associated with a more favorable prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
Clinical Trial Phase Therapies Title Recruitment Status