chr13:28608219:> Detail (hg19) (FLT3)

Information

Genome

Assembly Position
hg19 chr13:28,608,219-28,608,351
hg38 chr13:28,034,082-28,034,214 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia Sorafenib B Predictive Supports Sensitivity/Response Somatic 2 22368270 Detail
acute promyelocytic leukemia B Prognostic Supports Poor Outcome Somatic 3 21461300 Detail
acute promyelocytic leukemia Anthracycline Antineoplastic Antibiotic,Tretinoin B Predictive Supports Resistance Somatic 4 24981688 Detail
acute myeloid leukemia Selumetinib B Predictive Supports Resistance Somatic 2 24178622 Detail
acute myeloid leukemia Tretinoin B Predictive Supports Resistance Somatic 3 19965647 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 17957027 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 17957027 Detail
acute myeloid leukemia Daunorubicin D Predictive Supports Resistance Somatic 3 15626738 Detail
acute myeloid leukemia SU5614 D Predictive Supports Resistance Somatic 3 15626738 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 5 27276561 Detail
acute myeloid leukemia Sorafenib C Predictive Supports Sensitivity/Response Somatic 1 23969938 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 4 21537333 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 2 17957027 Detail
acute myeloid leukemia A Prognostic Supports Poor Outcome Somatic 3 24801015 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 21537333 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 21537333 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 21537333 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 16455956 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 24855211 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 3 11290608 Detail
acute myeloid leukemia Lestaurtinib B Predictive Supports Sensitivity/Response Somatic 4 14726387 Detail
acute myeloid leukemia Sorafenib B Predictive Supports Sensitivity/Response Somatic 4 18230792 Detail
acute myeloid leukemia Tyrphostin AG 1296 D Predictive Supports Sensitivity/Response Somatic 4 12357354 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 11290608 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 11585760 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 4 22490330 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 5 21067377 Detail
acute myeloid leukemia Ponatinib D Predictive Supports Sensitivity/Response Somatic 5 21482694 Detail
leukemia Sunitinib,Sorafenib D Predictive Supports Sensitivity/Response Somatic 4 21482694 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
13 patients with relapsed or chemo-refractory FLT3-ITD+ AML were treated with sorafenib (200-400 mg ... CIViC Evidence Detail
In a study of 53 APL patients treated with combination ATRA/anthracycline chemotherapy, patients wit... CIViC Evidence Detail
In a study of 171 APL patients treated with combination ATRA/anthracycline chemotherapy, FLT3 ITD mu... CIViC Evidence Detail
Forty-seven patients with relapsed/refractory AML or 60+ years old with untreated AML were enrolled ... CIViC Evidence Detail
ATRA treatment did not effect overall survival in patients <60 years old with FLT3-ITD mutation. CIViC Evidence Detail
FLT3-ITD mutation without NPM1 was associated with increased relapse risk and reduced overall surviv... CIViC Evidence Detail
Increasing level of FLT3-ITD mutant correlated with reduced disease-free and overall survival as wel... CIViC Evidence Detail
Ba/F3 cells with both FLT3-ITD and TKD mutations on the same allele have more resistance to daunorub... CIViC Evidence Detail
Ba/F3 cells with both FLT3-ITD and TKD mutations on the same allele have more resistance to the prot... CIViC Evidence Detail
In the absence of a FLT3 (ITD) mutation, a co-mutation of NPM1 and DNMT3A had a 50% 10-year survival... CIViC Evidence Detail
Six children with relapsed or refractory FLT3-ITD-positive AML received initial therapy with sorafen... CIViC Evidence Detail
FLT3-ITD duplication length did not effect prognosis in patients with an NPM1 mutation. CIViC Evidence Detail
Size of the FLT3-ITD mutant duplication had no impact on overall survival or relapse rate. CIViC Evidence Detail
Meta-analysis of studies involving cytogentically normal younger (<60) patients showed reduced overa... CIViC Evidence Detail
A ratio of >0.49 FLT3-ITD/FLT3 wildtype level was associated with reduced event-free and overall sur... CIViC Evidence Detail
Patients with NPM1 mutation and FLT3-ITD had reduced event-free survival compared to patients with w... CIViC Evidence Detail
Using a ratio of FLT3-ITD/FLT3 wildtype levels as a continuous variable, a higher ratio was associat... CIViC Evidence Detail
Coocurrence of FLT3-ITD mutations significantly reduced overall (N=74 vs 95, P=0.003) and disease-fr... CIViC Evidence Detail
Patients with NPM1 mutations and low (<25%, N=63), intermediate (25-50%, N=156) or high (>50%, N=66)... CIViC Evidence Detail
WBC counts were higher in AML patients with internal tandem repeat of Flt3 compared to wild type. CIViC Evidence Detail
CEP701 was effective in reducing blast counts of 5/14 heavily pre-treated AML patients with FLT3 mut... CIViC Evidence Detail
Sorafenib is effective in patients with FLT3 internal tandem repeats, but not in wild type or D835 m... CIViC Evidence Detail
AG1296 is effective in triggering apoptosis in Ba/F3 and primary AML cells with FLT3 internal tandem... CIViC Evidence Detail
AML patients with internal tandem repeat of FLT3 has worse overall survival than patients with wild ... CIViC Evidence Detail
Simultaneous tandem repeat of FLT3 with loss of wild type FLT3 leads to poor survival and inferior d... CIViC Evidence Detail
In young AML patients (<60 years old), DNMT3A mutation status was not predictive of overall and rela... CIViC Evidence Detail
In AML patients with FLT3-ITD mutations, concurrent DNMT3A mutations were associated with worse over... CIViC Evidence Detail
In a preclinical trial, multiple experiments testing the effectiveness of ponatinib on the mutation ... CIViC Evidence Detail
In a preclinical trial, the leukemic cell line MV4-11 with the FLT3-ITD mutation and the leukemic ce... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr13:28,608,219-28,608,351
Variant Type
snv
Variant (CIViC) (CIViC Variant)
ITD
Transcript 1 (CIViC Variant)
ENST00000241453.7
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/55
Summary (CIViC Variant)
FLT3-ITD (internal tandem duplications) frequently occur in patients with hematologic malignancies such as chronic myelogenous leukemia, acute myeloid leukemia (AML) and myelodysplastic syndrome, but particularly in cytogenetically normal AML (CN-AML). These duplication events disrupt the juxtamembrane domain of FLT3 and can be the result of a duplication of internal FLT3 sequence or other unrelated sequence resulting in an in-frame duplication event. The length of these duplications can vary widely which may have prognostic consequences, but this has not been conclusively determined. FLT3-ITD mutations overall have generally been associated with poor prognosis. Additional genes associated with CN-AML such as NPM1 may modulate the prognosis associated with this variant.
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