Table 16-2Hamartomatous Polyposis Syndromes

SyndromePhenotypeMutations
Peutz-Jeghers syndromePerioral pigmentations, pigmentations of fingers, upper and lower gastrointestinal (GI) hamartomatous lesions, small bowel and pancreas cancer, colorectal cancer, and sex cord tumors with annular tubules (SCTAT) of the ovary LKBI/STK11 gene354
Familial juvenile polyposisGI hamartomatous polyps, increased risk of GI malignancy (stomach, colorectum), diagnosis made only when features classic for other syndromes are not present SMAD4/DPC4 gene101, BMPRIA gene355, PTEN gene356
Cowden syndromeColonic hamartomatous polyps but firm association with colorectal cancer yet to be identified, benign and malignant neoplasms of the thyroid, breast, uterus and skin (multiple trichilemmomas) PTEN/MMAC1/DEP1 229, 238 (finding a germ line PTEN mutation is molecular evidence for the Cowden syndrome, but absence of an identifiable PTEN mutation is nondiagnostic)
Bannayan-Ruvalcaba-RileyMicrocephaly, fibromatosis, hamartomatous polyposis, hemangiomas, speckled penis; colorectal cancer has not been identified PTEN

From: Genetic Basis of Cancer Syndromes

Cover of Holland-Frei Cancer Medicine
Holland-Frei Cancer Medicine. 6th edition.
Kufe DW, Pollock RE, Weichselbaum RR, et al., editors.
Hamilton (ON): BC Decker; 2003.
Copyright © 2003, BC Decker Inc.

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