Patients with associated genetic mutation face an increased risk of GI polyposis and colon cancer

Tuesday, December 21, 2010 (Last Updated: 12/22/2010)

TUESDAY, Dec. 21 (HealthDay News) -- Individuals who carry the genetic mutation that causes Cowden syndrome -- associated with macrocephaly and an elevated risk of breast and thyroid cancers -- are also at increased risk of colon cancer, according to a study published in the December issue of Gastroenterology.

Brandie Heald, of the Cleveland Clinic, and colleagues performed germline PTEN mutation/deletion analysis in 2,548 patients who met relaxed International Cowden Consortium criteria and 397 with at least five gastrointestinal polyps, of which at least one was hyperplastic or hamartomatous.

Of 127 PTEN mutation carriers, 67 had at least one endoscopy. The investigators found that 74.8 percent had macrocephaly. Sixty-five patients (51.2 percent) had gastrointestinal polyps. Half of these had hyperplastic polyps and one-quarter each had hamartomatous, ganglioneuromatous, or adenomatous polyps. Thirteen percent of subjects, all under age 50, had colorectal cancer. The researchers concluded that routine colonoscopy should be considered in PTEN-associated Cowden syndrome, especially in the case of hyperplastic and/or adenomatous polyps.

"Multiple colorectal polyps of any histology and hyperplastic polyps, especially a hyperplastic polyposis syndrome phenotype, may be red flags for PTEN mutation carriers developing colorectal cancers. Importantly, colorectal adenocarcinomas have an increased prevalence in PTEN mutation carriers, all occurring prior to the age of 50 years, and so, routine colonic surveillance should be considered," the authors write.

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Specialties Gastroenterology
Hematology & Oncology

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