Clinical and prognostic value of mutational status in patients with gastrointestinal stromal tumors

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Abstract

Mutational status of GIST patients plays an important role in clinical practice. Gastrointestinal stromal tumors are the most frequent mesenchymal tumors that are characterized by mutations in tyrosine kinase receptors KIT and PDGFRA. Mutations in KIT and PDGFRA genes determine the sensitivity to therapy with tyrosine kinase inhibitors and are associated with prognosis of GIST patients. Analysis of the mutational status of 52 GIST patients with localized disease treated in N.N. Blokhin RCRC between 2001 and 2007 was conducted. KITmutations were found in 40 patients (76,9%), of which 34 cases (65,5%) exhibited 11 exon, 5 (9,6%) 9 exon and 1 (1,9%) case 13 exon. PDGFRA mutations were detected in 18 exon in 7 (13,5%) patients. WT genotype was found in 5 (9,6%) patients. Deletions in KIT exon 11 were detected in 17 c10 better clinical outcome (5-year survival rate of 100,0% and 75,0%) when compared with deletions in KIT exone 11 and duplications in exon 9 (5-year survival rate of 48,4% and 25,0%). Survival analysis with deletions KIT11 exon showed no significant difference of survival rate in patients with gastric and intestinal stromal tumors.

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P. P. Arkhiri

FGBU N.N. Blokhin Russian Cancer Research Center

Author for correspondence.
Email: arhiri@mail.ru
Russian Federation

N. Ts. Tsymgitova

FGBU N.N. Blokhin Russian Cancer Research Center

Russian Federation

I. S. Stilidi

FGBU N.N. Blokhin Russian Cancer Research Center

Russian Federation

I. V. Poddubnaya

FGBU N.N. Blokhin Russian Cancer Research Center

Russian Federation

M. P. Nikulin

FGBU N.N. Blokhin Russian Cancer Research Center

Russian Federation

I. V. Tsyganova

FGBU N.N. Blokhin Russian Cancer Research Center

Russian Federation

O. A. Anurova

FGBU N.N. Blokhin Russian Cancer Research Center

Russian Federation

N. N. Mazurenko

FGBU N.N. Blokhin Russian Cancer Research Center

Russian Federation

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Copyright (c) 2013 Arkhiri P.P., Tsymgitova N.T., Stilidi I.S., Poddubnaya I.V., Nikulin M.P., Tsyganova I.V., Anurova O.A., Mazurenko N.N.

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