Evaluation of guidelines for management of familial adenomatous polyposis in a multicenter pediatric cohort.

Objective: To retrospectively assess, in a pediatric multicenter cohort, guidelines for the management of familial adenomatous polyposis (FAP).

Methods: Ten centers from the French-speaking Pediatric Gastroenterology Hepatology and Nutrition Group provided follow-up data on patients up to 18 years of age. Clinical records, genetic test results, endoscopy with histopathology examination, and therapeutic modalities were reviewed.

A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours.

Background: Although most gastrointestinal stromal tumours (GIST) carry oncogenic mutations in KIT exons 9, 11, 13 and 17, or in platelet-derived growth factor receptor alpha (PDGFRA) exons 12, 14 and 18, around 10% of GIST are free of these mutations. Genotyping and accurate detection of KIT/PDGFRA mutations in GIST are becoming increasingly useful for clinicians in the management of the disease.

Method: To evaluate and improve laboratory practice in GIST mutation detection, we developed a mutational screening quality control program.