GIST - Why asking for molecular analysis

The mutational analysis in GISTs is a complex biomolecular procedure aiming at the identification in the tumor DNA of the mutated exon responsible of the disease onset.

In Italy - and Europe as well - this procedure in not spread since there are few Reference Centers performing this kind of analysis.

The mutational analysis should be performed everytime there is need to plan a medication vith Imatinib Mesylate (Gleevec) both in the advanced and localized (adjuvant) setting.

Nowadays, it is already known that some mutations - fortunately less common - are not sensitive to Imatinib thus this kind of medication should be avoided.

In fact, in case of some mutations in PDGFRa gene on exon 12, such as type D842V, or wild type genes Imatinib is not efficient thus it should not be prescribed.

In the same way, in case of advances disease, it is important to know the mutated gene and exon since in case of exon 9 of c-KIT mutations the dose of Imatinib should be increased to 800 mg daily, since 400 mg daily is not efficient. 

Finally, in case of a pre-operatory (neoadjuvant) treatment, in order to avoid a demolitive surgery, it is important to know the mutational status excluding useless treatments, since the tumor response could be poor or worse the tumor may grow and decrease the chances of a radical surgery.

The mutational analysis could be avoided only in those cases not requiring any kind of medications.

In every other setting it is absolutely suggested and our center is at your disposal to perform it.

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