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Master Thesis

KIT exon 10 variant (c.1621 A>C) germ line characteristics as predictor of GIST patient outcome

Abstract : BACKGROUND: We investigated a potential biological and clinical significance of the variant in transfected cell lines and in 2 retrospective series of GIST. METHODS: Transfected NIH3T3 cells were used, stably expressing different expression vectors of KIT: WT, mutated and polymorphic (L541). Then, a retrospective translational research program was performed on tumor and blood samples of patients with GIST. RESULTS: In L541 cell lines, KIT protein has a spontaneous phosphorylation status comparable to WT, but display an activation pattern of AKT and ERK1/2 similar to that of the mutated forms of the receptors in the presence of CSF. KITL541 share some of the biochemical properties of the mutated KIT receptors. Overall, 24 of 109 patients (22%) harboured KITL541, showing no statistical difference with healthy blood donors. The variant KITL541 was correlated to metastatic status at diagnosis and lower RFS at 5 years. PFS and OS at 5 years of the 2 groups were not different. CONCLUSION: Our results support a poor prognosis value of KITL541 in patients with GIST.
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Master Thesis
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Submitted on : Wednesday, May 13, 2015 - 9:56:56 AM
Last modification on : Tuesday, May 11, 2021 - 11:36:18 AM
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  • HAL Id : dumas-01151553, version 1


Mehdi Brahmi. KIT exon 10 variant (c.1621 A>C) germ line characteristics as predictor of GIST patient outcome. Human health and pathology. 2015. ⟨dumas-01151553⟩



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