EXON 11, C KIT mutation in a ‘CD 117’ &amp; ‘DOG 1’ negative colonic gastrointestinal tumor

Sen, Arunava; Gangavatiker, Rajesh

doi:10.1016/j.mjafi.2013.07.011

Cited by 2 publications

(2 citation statements)

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“…[ 5 17 18 19 ] There are only 2 studies, and few case reports from India. [ 5 8 9 ] Cyriac et al . [ 9 ] retrospectively analyzed KIT exons 9 and 11 on 19 cases of metastatic GIST.…”

Section: Discussionmentioning

confidence: 99%

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Unraveling the spectrum of KIT mutations in gastrointestinal stromal tumors: An Indian Tertiary Cancer Center Experience

Pai

Bal

Shetty

et al. 2017

South Asian J Cancer

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Background:Primary mutations in the KIT gene are the driving force for gastrointestinal stromal tumors (GIST) tumorigenesis. Predictive role of KIT mutation status aids oncologists in patient management. There is a paucity of comprehensive data on the frequency of mutations in the KIT gene in GIST affecting Indian patients. The aims of this study were to determine the frequency and spectrum of molecular alterations affecting the KIT gene and assess their association with clinicopathologic features in a cohort of patients of GIST.Materials and Methods:Morphological and immunohistochemically confirmed GIST cases (n = 114) accessioned from August 2014-June 2015 were analyzed for mutations in KIT exons 9, 11, 13, and 17 and subjected to Sanger sequencing onto the ABI 3500 Genetic Analyzer. The sequences were analyzed using sequence analysis software: SeqScape® and Chromas Lite.Results:KIT mutations were seen in 70% of cases and the majority of KIT mutations involved exon 11 (57%), followed by exon 9 (10%), exon 13 (3%), and exon 17 (1%). Most common exon 11 mutations were in-frame deletions (61.4%) followed by substitution mutations (19.3%). Exon 9 mutations showed identical duplication of Ala-Tyr at codons 502–503. Simultaneous mutations affecting exon 11 and 13 were discovered. Novel variations, namely, p.Q556E (c.1666C>G), p.Q556dup (c.1666_1668dupCAG), p.K558_V559delinsS (c.1672_1677delAAGGTTinsAGT), p.Y503_F504insTY (c.1509_1510insACCTAT), and p.K642R (c.1925A>G) involving exons 11, 9, and 13, respectively, were observed.Interpretation and Conclusions:First study with complete analysis of all 4 exons of KIT (exons 9, 11, 13, and 17) in Indian GIST patients. Along with well-described KIT mutations, several rare double mutations as well as novel alterations were reported in this series.

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“…[ 5 17 18 19 ] There are only 2 studies, and few case reports from India. [ 5 8 9 ] Cyriac et al . [ 9 ] retrospectively analyzed KIT exons 9 and 11 on 19 cases of metastatic GIST.…”

Section: Discussionmentioning

confidence: 99%

“…There is a paucity of molecular data on Indian GISTs as case reports,[ 8 ] short series[ 9 ] our clinical data. [ 10 11 ] The primary aim of this study was to determine the frequency of KIT mutations in a large cohort of GIST patients.…”

Section: Introductionmentioning

confidence: 99%