Fibromatosis of the Sigmoid Colon With CTNNB1 (β-Catenin) Gene Mutation, Arising at the Site of Ileocolic Anastomosis for Resection of Gastrointestinal Stromal Tumor
| Autor: | Angela Riddell, Khin Thway, Sara Abou Sherif, Satvinder Mudan |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
medicine.medical_specialty Pathology Gastrointestinal Stromal Tumors DNA Mutational Analysis Fibroma Gene mutation Anastomosis Sigmoid mesocolon Gastroenterology Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Stromal tumor beta Catenin GiST business.industry Fibromatosis Anastomosis Surgical Sigmoid colon Neoplasms Second Primary medicine.disease digestive system diseases Sigmoid Neoplasms medicine.anatomical_structure 030220 oncology & carcinogenesis Mutation Surgery Female Sarcoma Anatomy business 030217 neurology & neurosurgery |
| Zdroj: | International journal of surgical pathology. 24(3) |
| ISSN: | 1940-2465 |
| Popis: | We describe a case of intra-abdominal fibromatosis, which occurred in a 44-year-old woman who had a previous history of gastrointestinal stromal tumor (GIST) of the sigmoid mesocolon, which was treated with imatinib and resection. A mass was detected at the site of ileocolic anastomosis of the previous small bowel resection and sigmoid colectomy, nearly 3 years later. Clinically, this was suspected to represent recurrent GIST and was excised, but histology and mutational analysis showed desmoid-type fibromatosis with a mutation in codon 41 of exon 3 of the CTNNB1 (β-catenin) gene. The occurrence of fibromatosis at the site of excision of GIST is very rare, but its recognition is important as the treatment of the two neoplasms differs significantly. As imaging cannot reliably distinguish between these 2 entities, histological diagnosis is crucial for correct clinical management. |
| Databáze: | OpenAIRE |
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