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.[1]

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 + + +/– +
Carney Syndrome
Familial Adenomatous Polyposis + + + +/– +
Peutz–Jeghers syndrome + + + + + +
  • Breast
  • Lung
  • Pancreas
  • Ovaries
  • Sertoli cells
  • Uterine
Juvenile Polyposis Syndrome + +
Cowden Syndrome
  • 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

References

  1. Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.


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