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KIT exon(s) 9 insertion
GeneKIT
Variantinsertion
Transcript ID (GRCh37/hg19)ENST00000288135
Exon9
Genomic Coordinates (GRCh37/hg19)4:55592023-55592216
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
Gastrointestinal Stromal TumorStomach
Gastrointestinal Stromal TumorSmall Intestine
Gastrointestinal Stromal TumorRectum
See All Pertinent Negatives

Interpretations

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Tier 1
KIT
Variants
KIT exon(s) 9 insertion
Primary Sites
Stomach
Small Intestine
Rectum
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

KIT mutations occur in approximately 85% of patients with gastrointestinal stromal tumors (GIST), while Exon 9 is mutated in approximately 10 ~ 15% of all KIT-mutated GIST. Compared to patients with KIT exon 11 mutations, patients with exon 9 mutations tumors show intermediate sensitivity to imatinib. Median duration of benefit from imatinib is approximately 7~12 months compared to 23 months for patients with exon 11 mutations. Patients with exon 9 mutations are more likely to respond to second line sunitinib than patients with other KIT/PDGFRA mutations.

Last updated: 2017-02-22 15:23:03 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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