(1)Section of Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.(2)Clinical Pathology, University Hospital of North Norway, Tromso, Norway.(3)Division of Orthopaedic Surgery, Department of Orthopaedic Oncology, Oslo University Hospital, Oslo, Norway.(4)Department of Abdominal and Paediatric Surgery, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.(5)Department of Medical Biology-Tumor Biology Research Group, Faculty of Health Sciences, UiT The Arctic University of Norway, Tromso, Norway.(6)Section of Inherited Cancer, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Publication
Fam Cancer
Summary
Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and desmoids. Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15-20% of the APC mutations are de novo mutations. Somatic mosaicism has been reported in some sporadic cases of polyposis but is probably an underestimated cause of the disease. This case report presents the detection of a mosaic APC mutation in a 26-year-old woman who as a child had been diagnosed with desmoid type fibromatosis. FAP was suggested when she presented with extensive extra abdominal fibromatosis. Our findings indicate that APC mutations may be suspected in patients presenting with a desmoid regardless of its location. If there is clinical evidence that the patient has FAP, adenomas and colonic mucosa in addition to leukocyte DNA should be included in the screening, preferably using methods that are more sensitive than Sanger sequencing.
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