Aggressive Phenotype of MYH-Associated Polyposis with Jejunal Cancer and Intra-Abdominal Desmoid Tumor

Abstract

MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.

An unusual cause of duodenal obstruction: Mesenteric fibromatosis in a patient with type I Mayer-Rokitansky-Kuster-Hauser syndrome

“…It usually presents as an abdominal mass, intestinal obstruction, pain, or discomfort (1). Only three MF patients with a duodenum obstruction have been reported up to now (6)(7)(8). The patient had been followed empirically before its clinical status started to get serious.…”

When is a desmoid not a desmoid? Endometrial cancer as an extracolonic manifestation of MYH Associated Polyposis (MAP)

“…The individual with the desmoid [4] had an aggressive phenotype including 4 colon adenocarcinomas and over 100 colon polyps by age 30.…”

Familial Colorectal Cancer: Understanding the Alphabet Soup

“…36 MAP is also associated with extracolonic disease, including duodenal adenomas, desmoid tumors, fundic gland polyps, and other extracolonic cancers such as ovarian, bladder, and endometrial cancers. 37,38 Genetics: MAP results from biallelic mutations in the MUTYH gene, which is a base excision repair gene that normally ensures proper coupling during DNA replication. Mutations in the MUTYH gene result in transversion of G:C to T:A coupling in the APC gene or the KRAS gene.…”