The Desmoid Tumor Research Foundation

April 2016

AKT1 and BRAF mutations in pediatric aggressive fibromatosis.

Author Information

Adele Busico,Alessandro Gronchi,Andrea Ferrari,Antonino Belfiore,Chiara Colombo,Cristina Meazza,Federica Perrone,Giulio Settanni,Luca Cesana,Maura Massimino,Nicholas Paielli,Silvana Pilotti,Stefano Chiaravalli

Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.,Laboratory of Experimental Molecular Pathology, Department of Pathology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.,Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

Publication

Summary

Aside from the CTNNB1 and adenomatous polyposis coli (APC) mutations, the genetic profile of pediatricaggressive fibromatosis (AF) has remained poorly characterized. The aim of this study was to shed more light on the mutational spectrum of pediatric AF, comparing it with its adult counterpart, with a view to identifying biomarkers for use as prognostic factors or new potential therapeutic targets. Our results indicate that the mutational spectrum of pediatric AF is more complex than that of adult AF, with multiple gene mutations involving not only CTNNB1 but also AKT1 and BRAF. This intriguing finding may have clinical implications and warrants further investigations.

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