Genetic Testing for Germline Mutations of the APC Gene in Patients With Apparently Sporadic Desmoid Tumors but a Family History of Colorectal Carcinoma

Abstract

These results may suggest that patients with sporadic desmoids and no clinical signs of familial adenomatous polyposis detected on careful examination, esophagogastroduodenoscopy, and complete colonoscopy do not need to be tested routinely for germline mutations of the APC gene. However, as large studies dealing with this problem are absent, it might be more time and cost effective to perform an APC mutational analysis instead.

Do biomaterials cause implant-associated mesenchymal tumors of the breast? Analysis of 8 new cases and review of the literature

“…In assessing the role of implants in the development of fibromatosis, it is important to take into account other factors that could independently relate to development of these tumors. It is well known that patients with mutations in the adenomatosis polyposis coli gene or Gardner syndrome are at increased risk for developing fibromatosis [22][23][24][25][26]. Although they as a group comprise only a small subset of patients with fibromatosis, most occur as a result of sporadic mutations in the β-catenin subunit of cell adhesion cadherins [2,27,28].…”

Desmoid Tumours: Our Experience of Six Cases and Review of Literature

“…Rhamm, a protein with an important role in wound healing and neoplastic progression, is also expressed at high levels in aggressive fibromatosis [20]. Genetic testing for APC gene mutation is advocated for patients with desmoid tumours and with positive family history [21]. This may help in screening of individuals who should undergo continuous surveillance of their colorectal and upper GI tract lesions.…”

Robotic-Assisted Distal Pancreatectomy for a Pancreatic Desmoid Tumor: A Case Report and Review of the Literature

“…Abdominal tumors can be located superficially in the abdominal wall or deep within the abdominal cavity arising from the retroperitoneum or the mesentery [4]. DTs may also be classified as sporadic or familial; the sporadic form is the most common (> 90% of the cases) and usually involves extraabdominal locations whereas the familial form occurs in 10% to 15% of Familial Adenomatous Polyposis (FAP) patients [5,6]. Gardner syndrome is defined as the concomitant occurrence of DTs in FAP patients, both familial syndromes resulting from an inactivating mutation of the APC gene [7].…”