Muir-Torre Syndrome

Muir-Torre Syndrome 

Updated: 01/28/20

© Jun Wang, MD, PhD

General features
  • Commonly autosomal dominant syndrome
  • Combination of neoplasms of the skin and a visceral malignancy
  • Likely a subtype of hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome)
Clinical presentations
  • Skin neoplasia
Sebaceous adenoma/carcinoma
Sebaceous epithelioma
Keratoacanthoma
  • Visceral malignancies
Colorectal
Endometrial
Small intestine
Urothelial
Genetic abnormalities
  • MSH2, most common
  • Other DNA mismatch repair gene (MMR)
  • MUTYH: Muir-Torre Syndrome II, autosomal recessive
Diagnosis
  • Clinical criteira, suspected if presents with one or more of the following
 Sebaceous tumor
<60 when first sebaceous tumor presents
Personal or family history of Lynch-related tumors
  • Tumor testing
Immunohistochemistry for MMRs
Microsatellite instability analysis
MUTYH
  • Germline mutation analysis: If tumor testing indicative of MMR mutation
Management
Annual skin examination for sebaceous tumor or keratoacanthoma
Colonoscopy
Annual screening for endometrial and ovarian cancers
Upper endoscopy and biopsy of gastric antrum
Annual urinalysis and cytologic exam beginning at 30-35 years

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Contents

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