New factors to consider for diagnosis of Cowden syndrome
Cowden syndrome has variable clinical phenotypes and gastrointestinal (GI) manifestations, but a study has recently added new considerations for diagnosis of this syndrome: multiple GI hamartomas, particularly two or more hamartoma types, and any intramucosal lipomas or ganglioneuromas.
Researchers selected Cowden patients (n=19) with GI polyps for medical record and pathologic slide review to further characterize the GI manifestations of the syndrome and improve its diagnosis.
Genetic testing indicated pathogenic PTEN mutations in 12 of the total patients. Pan-colonic (n=11; 58 percent) and pan-GI (n=8; 42 percent) polyp distributions were common. The most common hamartomatous polyps were inflammatory (juvenile) polyps (n=18; 95 percent), along with expansive lymphoid follicle polyps (n=12; 63 percent), ganglioneuromatous polyps (n=10; 53 percent) and intramucosal lipomas (n=5; 26 percent).
A new and highly prevalent (79 percent) feature of Cowden syndrome that emerged was the findings of two or more hamartomatous polyp types per patient. Additional evaluation should be initiated for ganglioneuromatous polyps, which are rare in the general population, and intramucosal lipomas, which may be unique to Cowden syndrome.
Furthermore, colonic adenomas and adenocarcinomas were common. There were 10 (53 percent) and three (16 percent) patients who had single and ≥3 adenomas, respectively. On the other hand, two patients (11 percent) had colonic adenocarcinoma, which supports the emerging association of colorectal cancer with Cowden syndrome.
“These features should warrant consideration of Cowden syndrome,” according to researchers, adding that proper diagnosis is critical for effective cancer surveillance and prevention in such patients.