Hereditary nonpolyposis colorectal cancer differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]

Overview

Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause familial colorectal cancer, such as juvenile polyposis, Familial Adenomatous Polyposis(FAP), Cowden syndrome and MYH-associated polyposis.

Differential diagnosis

Differential Diagnosis	Similar Features	Differentiating Features
Familial adenomatous polyposis (FAP)	Familial inheritance, increased risk of colorectal cancer, extra-colonic tumors.	Autosomal recessive, 100+ polyps and age under 40, centinel tumors are differently located than HNPCC, such as: Osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE)
Juvenile polyposis	Familial inheritance, autosomal dominant, high risk of GI and non GI cancer, also a germline mutation.	Gastrointestinal hamartomatous polyps, on physical exam lip pigmentation is common.
Cowden syndrome	Rare autosomal dominant inherited disorder, increased risk of colorectal cancer, also has gene mutations.	Intestinal hamartomatous polyps, physical exam may show macrocephaly, gene affected PTEN.

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