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Gene | FLT3 |
Variant | V592G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 V592G lies within a region important for maintaining kinase activity in the Flt3 protein (UniProt.org). V592G results in constitutive phosphorylation of Flt3, activation of Stat3/5, Akt, and Erk signaling, and is transforming in culture (PMID: 18068628). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 V592G FLT3 mutant FLT3 exon14 FLT3 V592G |
Transcript | NM_004119.3 |
gDNA | chr13:g.28034144A>C |
cDNA | c.1775T>G |
Protein | p.V592G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28034144A>C | c.1775T>G | p.V592G | RefSeq | GRCh38/hg38 |
NM_004119 | chr13:g.28034144A>C | c.1775T>G | p.V592G | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28034144A>C | c.1775T>G | p.V592G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 V592G | Advanced Solid Tumor | sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, Rydapt (midostaurin) inhibited FLT3-induced phosphorylation of ERK1/2 and reduced growth of transformed cells expressing FLT3 V592G in culture (PMID: 18068628). | 18068628 |
FLT3 V592G | acute myeloid leukemia | predicted - sensitive | Sorafenib | Case Reports/Case Series | Actionable | In a clinical case study, Nexavar (sorafenib) and Droxia (hydroxyurea) treatment resulted in complete remission with no minimal residual disease, and continued Nexavar (sorafenib) treatment plus Vidaza (azacytidine) treatment resulted in sustained response for at least 60 months in a patient with acute myeloid leukemia harboring FLT3 V592G, along with NPM1 W288fs and TET2 T556fs (PMID: 32984009). | 32984009 |