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Mutational testing for KIT and PDGFRA is therefore considered mandatory in the treatment planning [ 17].
In this retrospective study, tumor mutational testing for the oncogenic KIT and/or PDGFRA genes was able to be performed in only 12 of 41 (29%) of these rare patients with rectal GISTs.
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7 Tumor specimens were available for KRAS mutational testing from 394 patients (69%) with mutations detected in 42% of these patients.
Perrone and colleagues described a significant impact on response and PFS by PIK3CA/PTEN mutations in a small study of 32 patients[ 12], and Sartori-Bianchi et al presented a significant PFS and OS survival benefit in non-mutated tumours, and suggested that these mutations may be a rational supplement to KRAS mutational testing with potential for clinical application[ 13].
A central pathology review that included KIT and PDGFRA mutational testing was performed for all patients from archival tissue by one of the investigators (FG).
Various methods for mutational testing have been used.
In 13 patients we failed to receive tumour tissue for mutational testing and consequently mutational status was assessed in a total of 94 patients.
Despite this, we believe it is prudent to continue dissection for tumor enrichment because additional mutational testing may be required on the same DNA preparation, and these add-on tests may have lower sensitivity.
The rate of mutational testing within this registry was 26.7% (30.5% for living members).
Specifically, KRAS mutational testing has been incorporated into several clinical practice guidelines for the treatment of patients with metastatic CRC.
Importantly, our methodology could easily be combined with KRAS mutational testing through biopsy of metastatic sites and allotment of tissue cores for both RNA and DNA purification.
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