Syndromes: Practice Question

Which of the following is caused by mutated mismatch repair proteins and is associated with colorectal tumors, and benign and malignant sebaceous tumors and keratoacanthomas in the skin?
  1. Muir-Torre syndrome
  2. Turcot syndrome
  3. Cowden's syndrome
  4. Lynch syndrome
  5. Kasabach-Merritt syndrome
Show Answer and Explanations

Muir-Torre syndrome — Correct answer

Correct. Muir-Torre syndrome is caused by mutations in MSH2 and MLH1 mismatch repair genes. It is associated with Lynch Syndrome related tumors (colorectal, GI, endometrial, ovarian etc) and skin tumors including keratoacanthoma, sebaceous adenoma and sebaceous carcinoma.

Turcot syndrome

Incorrect. Turcot is caused by mutation of mismatch repair gene PMS2. It causes polyposis and CNS tumors.

Cowden's syndrome

Incorrect. Cowden's syndrome is caused by mutations in PTEN. It causes HAMARTOMAS. Facial trichilemmomas and other tumors are also found.

Lynch syndrome

Incorrect. Lynch syndrome is caused by mutations in mismatch repair proteins, MLH1, MSH2, MSH6 or PMS2. Among these proteins, MSH2 mutations have a higher incidence of cancer than MLH1, and MSH6 mutations have a higher rate of endometrial cancer. Lynch syndrome is not as commonly associated with sebaceous tumors and keratoacanthomas as is Muir-Torre syndrome.

Kasabach-Merritt syndrome

Incorrect. Kasabach-Merritt syndrome usually presents in infancy. It is the association of a vascular tumor, usually kaposiform hemangioendothelioma or tufted angioma, with thrombocytopenia, microangiopathic hemolytic anemia and consumptive coagulopathy.

Summary

Summary: Muir-Torre syndrome is associated with Lynch Syndrome related tumors (colorectal, GI, endometrial, ovarian etc) and skin tumors including keratoacanthoma, sebaceous adenoma and sebaceous carcinoma.
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