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New factors to consider for diagnosis of Cowden syndrome

18 Jul 2017

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.

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Most Read Articles
Elvira Manzano, 4 days ago
Bisphosphonates have proven antifracture efficacy and remain to be the cornerstone of osteoporosis treatment. However, a drug holiday is of particular importance with bisphosphonates due to some signals with long-term use of the drug, including rare incidence of atypical femoral fracture (AFF) and osteonecrosis of the jaw (ONJ), says a leading endocrinologist at AFOS 2017.
Yesterday
Breast cancer patients have notably different microbiomes in the local breast tissue and urinary tract, a recent study reveals. Particularly, species in the Methylobacterium genus are reduced in the local breast tissue while the urinary tract is enriched in gram-positive bacteria.
Pearl Toh, 13 Oct 2017
Women with higher plasma tryptophan concentrations were less likely to have poor sleep quality during pregnancy, especially among those with anxiety symptoms, according to the GUSTO* study.
Tristan Manalac, Yesterday
Statin use, particularly in smokers, obese patients and nondiabetics, has a strong and dose-dependent association with decreasing risk of pancreatic ductal adenocarcinoma (PDAC), according to a new study.