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Gene | CBL |
Variant | inact mut |
Impact List | unknown |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL inact mut indicates that this variant results in a loss of function of the Cbl protein. However, the specific amino acid change has not been identified. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL inact mut |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CBL mutant | myelodysplastic/myeloproliferative neoplasm | not applicable | N/A | Clinical Study | Prognostic | In clinical analyses, mutations in CBL were associated with adverse prognosis in patients with chronic myelomonocytic leukemia (PMID: 26230957, PMID: 23690417, PMID: 19901108). | 26230957 19901108 23690417 |
CBL mutant | bone marrow cancer | sensitive | Quizartinib | Preclinical | Actionable | In a preclinical study, Vanflyta (quizartinib) reduced white blood cell counts and decreased myeloid cell invasion in a CBL mutant mouse model with myeloproliferative disorder (PMID: 22990016). | 22990016 |
CBL mutant | systemic mastocytosis | not applicable | N/A | Guideline | Prognostic | CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org). | detail... |
CBL mutant | myelofibrosis | not applicable | N/A | Guideline | Prognostic | CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). | detail... |