title: Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.
abstract: The proportion and clinical characteristics of Gardner fibromas (GAFs) that are sporadic versus familial adenomatous polyposis (FAP)-associated have not been clearly established. We report on 7 patients diagnosed with GAF who underwent APC sequencing and duplication/deletion testing. Three (43%) were found to have underlying APC germline perturbations consistent with FAP; these patients had multifocal (1) or large; unresectable (2) GAFs. The 4 patients with negative APC testing each had a single resectable GAF. β-catenin reactivity was noted in all FAP-associated GAFs and in 1/4 APC wild-type cases. FAP-associated GAFs may be less common than sporadic GAFs and can demonstrate clinically distinct features.
authors: *Department of Pediatrics Divisions of †Pathology and Laboratory Medicine ‡Human Genetics §Cancer and Blood Disease Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH.
authors: Nathan A
authors: NA
authors: Dahl
authors: Amy
authors: A
authors: Sheil
authors: Sarah
authors: S
authors: Knapke
authors: James I
authors: JI
authors: Geller
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005350:Fibroma; D005736:Gardner Syndrome; D017491:Genes, APC; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA; D051176:beta Catenin / Q000378:metabolism
chemical_list: C495270:CTNNB1 protein, human; D051176:beta Catenin