title: Nonsyndromic Intestinal Lipomas are Probably not Associated With Mutations of PDGFRA.
abstract: The purpose of this study was to test the hypothesis that intestinal lipomas occurring in patients devoid of signs of PDGFRA-mutant syndrome might represent sporadic counterparts of familial lipomatous tumors occurring in the spectrum of tumors associated with PDGFRA mutations. PDGFRA-mutant syndrome may manifest with gastrointestinal stromal tumors, Vanek tumors, fibrous tumors, and lipomatous tumors. Until now there has been no molecular genetic study of PDGFRA mutations in intestinal lipomas published in the world literature. A series of 20 intestinal lipomas were obtained from 17 patients, and mutational analysis of exons 12, 14, and 18 of the PDGFRA gene was performed. None of the 16 analyzable tumors showed mutations in PDGFRA. Thus, PDGFRA mutations probably do not play an important role in the development of sporadic lipomas of the intestines.
authors.affiliation: *Sikl's Department of Pathology, Medical Faculty Hospital, Medical Faculty in Plzen, Charles University in Prague †Biopticka Laborator s.r.o, Plzen, Czech Republic.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Dubova
authors.forename: Monika
authors.initials: M
authors.lastname: Sedivcova
authors.forename: Bohuslava
authors.initials: B
authors.lastname: Saskova
authors.forename: Sarka
authors.initials: S
authors.lastname: Hadravska
authors.forename: Ondrej
authors.initials: O
authors.lastname: Daum
mesh_terms: D005091:Exons; D006801:Humans; D007414:Intestinal Neoplasms / Q000235:genetics*; D008067:Lipoma / Q000235:genetics*; D009154:Mutation; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*
chemical_list: D020796:Receptor, Platelet-Derived Growth Factor alpha