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Gene | FLT3 |
Variant | I836del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | FLT3 I836del results in the deletion of an amino acid in the protein kinase domain activation loop of the Flt3 protein at amino acid 836 (PMID: 12663439). I836del results in constitutive phosphorylation of Flt3 and activation of Stat5, Erk signaling, leading to transformation of cultured cells (PMID: 15256420). |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 I836del FLT3 mutant FLT3 exon20 FLT3 I836del |
Transcript | NM_004119.3 |
gDNA | chr13:g.28018500_28018502delGAT |
cDNA | c.2508_2510delCAT |
Protein | p.I836delI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119 | chr13:g.28018500_28018502delGAT | c.2508_2510delCAT | p.I836delI | RefSeq | GRCh38/hg38 |
XM_017020486.1 | chr13:g.28015186_28015188delCAT | c.2506_2508delATG | p.M836delM | RefSeq | GRCh38/hg38 |
XM_017020486 | chr13:g.28015186_28015188delCAT | c.2506_2508delATG | p.M836delM | RefSeq | GRCh38/hg38 |
XM_017020486.2 | chr13:g.28015186_28015188delCAT | c.2506_2508delATG | p.M836delM | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28018500_28018502delGAT | c.2508_2510delCAT | p.I836delI | RefSeq | GRCh38/hg38 |
NM_004119.2 | chr13:g.28018500_28018502delGAT | c.2508_2510delCAT | p.I836delI | RefSeq | GRCh38/hg38 |
XM_011535015.3 | chr13:g.28015679_28015681delATC | c.2506_2508delATG | p.M836delM | RefSeq | GRCh38/hg38 |
XM_011535015 | chr13:g.28015679_28015681delATC | c.2506_2508delATG | p.M836delM | RefSeq | GRCh38/hg38 |
XM_011535015.2 | chr13:g.28015679_28015681delATC | c.2506_2508delATG | p.M836delM | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FLT3 I836del | cancer | sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, Rydapt (midostaurin) inhibited phosphorylation of FLT3, ERK, and STAT5, and growth of transformed cells expressing FLT3 I836del in culture (PMID: 17827387). | 17827387 |
FLT3 I836del | cancer | sensitive | Tandutinib | Preclinical - Cell culture | Actionable | In a preclinical study, Tandutinib (CT53518) inhibited phosphorylation of FLT3 and activation of ERK and STAT5, and reduced growth of transformed cells expressing FLT3 I836del in culture (PMID: 15256420). | 15256420 |
FLT3 I836del | hematologic cancer | sensitive | Gilteritinib | Preclinical - Cell culture | Actionable | In a preclinical study, Xospata (gilteritinib) resulted in reduced cell viability in transformed cells expressing FLT3 I836del in culture (PMID: 32040554). | 32040554 |
FLT3 I836del | acute myeloid leukemia | predicted - sensitive | Cytarabine + Mitoxantrone + Sorafenib | Case Reports/Case Series | Actionable | In a clinical study, combination treatment with Cytosar-U (cytarabine), Novantrone (mitoxantrone), and Nexavar (sorafenib) treatment in an acute myeloid leukemia patient harboring FLT3 I836del led to remission with negative minimal residual disease (PMID: 33563661; NCT02670525). | 33563661 |
FLT3 I836del | acute myeloid leukemia | predicted - sensitive | Azacitidine + Sorafenib + Venetoclax | Case Reports/Case Series | Actionable | In a clinical study, combination treatment with Vidaza (azacitidine), Nexavar (sorafenib) and Venclexta (venetoclax) resulted in continued remission from Cytosar-U (cytarabine), Novantrone (mitoxantrone), and Nexavar (sorafenib) treatment in an acute myeloid leukemia patient harboring FLT3 I836del (PMID: 33563661; NCT02670525). | 33563661 |