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

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas M
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Anemia

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Lymphoid neoplasms

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