استقصاء طفرات الإكسون 11 لجين c-kit لدى عدد من مرضى الورم السدوي المعدي المعوي السوريين المستجيبين و غير المستجيبين ل Imatinib

الملخص EN

Gastrointestinal stromal tumor (GIST) is a sarcoma arising from mesenchymal layer in the muscular wall of the gastrointestinal tract.

C-kit gene mutations are involved in the emergence and development of this tumor.

Exon 11 mutations of c-kit gene represent two-thirds of these mutations.

Imatinib is the first-line treatment for GIST.

Although more than half of the patients show a response to the treatment, a proportion of them do not respond.

Whereas Patients who show exon 11 mutations are the most responsive to the treatment.

Recent approaches for GIST treatment with imatinib request c-kit mutations analysis mainly present on exon 11.

Our study aimed to verify the presence or absence of exon 11 mutations in a number of imatinib responsive and non-responsive patients.

This retrospective study included seven GIST patients (n=7), four of them were responsive to treatment (4/7) and three patients were not (3/7).

Sequencing of exon 11 c-kit gene in DNA extracted from specimens preserved for these patients was performed.

Our results proved the presence of exon 11 mutations in responsive patients, and their absence in non-responders.

Our findings suggest the necessity of adopting this investigation in setting the protocol of treatment of these patients.