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]Ali Akram, M.B.B.S.[3]

Overview

Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause familial colorectal cancer, such as: juvenile polyposis, familial adenomatous polyposis, Cowden syndrome, and MYH-associated polyposis.

Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases

HNPCC must be differentiated from other diseases, such as:

Diseases	History and Symptoms			Physical Examination			Laboratory Findings			Other Findings
	Abdominal Pain	Rectal Bleeding	Fatigue	Abdominal Tenderness	Hyperpigmentation	Anemia	Gene(s)	Gastrointestinal Tumors	Cancers
Hereditary Non–Polyposis Colon Cancer	–	+	+	+/–	–	+	MLH1 MSH2 MSH3 MSH6 PMS1 PMS2	Adenoma+	Endometrium Stomach Kidneys Ureter Ovaries	Sebaceous adenoma
Carney Syndrome	–	–	–	–	Facial+ Mucosal+	–	PRKAR1A		Thyroid Sertoli Cell	Myxoma of skin Myxoma of heart
Familial Adenomatous Polyposis	+	+	+	+/–	–	+	APC gene MUTYH gene	Adenoma+++	Colon Brain Thyroid	Desmoid tumor Osteoma
Peutz–Jeghers syndrome	+	+	+	+	+	+	STK11 (LBK1) gene	Adenoma+ Hamartoma+++	Breast Lung Pancreas Ovaries Sertoli cells Uterine
Juvenile Polyposis Syndrome	+		+	–	–	–	SMAD4 BMPR1A	Adenoma+  Hamartoma+++	Colon
Cowden Syndrome	–	–	–	–	Axillary+ Inguinal+ Facial+	–	PTEN	Adenoma+  Hamartoma+++	Breast Thyroid Endometrium	Trichilemmoma Skin hamartoma Hyperplastic polyp Macrocephaly Breast fibrosis

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 hereditary nonpolyposis colorectal cancer, such as: multiple 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

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