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	Familial inheritance, increased risk of colorectal cancer, extra-colonic tumors, and genetic mutations.	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), and APC is the gene affected.
Juvenile polyposis	Familial inheritance, autosomal dominant, increased risk of colorectal cancer, extra-colonic tumors, and genetic mutations.	Gastrointestinal hamartomatous polyps, on physical exam lip pigmentation is common, and STK11 is the gene affected.
Cowden syndrome	Familial inheritance, rare autosomal dominant, increased risk of colorectal cancer, and genetic mutations.	Intestinal hamartomatous polyps, physical exam may show macrocephaly, and PTEN is the gene affected.

References

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