A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome

Maegan E. Roberts, Douglas L. Riegert-Johnson, Brittany C. Thomas, Kandelaria M. Rumilla, Colleen S. Thomas, Michael G. Heckman, Jennifer U. Purcell, Nancy B. Hanson, Kathleen A. Leppig, Justin Lim, Mark A. Cappel

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Purpose:The Muir-Torre syndrome variant of Lynch syndrome is characterized by the presence of sebaceous neoplasms (adenoma, epithelioma/sebaceoma, carcinoma) and Lynch syndrome-associated cancers (colon, endometrial, and others). Several clinical scoring systems have been developed to identify patients with colon cancer at high risk of Lynch syndrome. However, no such system has been described for patients presenting with sebaceous neoplasms.Methods:Based on logistic regression analysis, a scoring system was developed for patients with sebaceous neoplasm to identify those with the highest likelihood of having Muir-Torre syndrome. The final version of the scoring system included variables such as age at presentation of initial sebaceous neoplasm, total number of sebaceous neoplasms, personal history of a Lynch-related cancer, and family history of Lynch-related cancers.Results:Patients with a score of 3 or more were more likely to have Muir-Torre syndrome (28 of 29 patients), those with a score of 2 had intermediate likelihood (12 of 20 patients), and no patient with a score of 0 or 1 was diagnosed with Muir-Torre syndrome.Conclusion:The Mayo Muir-Torre syndrome risk scoring system appears to identify whether patients who present with sebaceous neoplasms are in need of further Lynch syndrome evaluation using easily ascertained clinical information. Abnormal mismatch repair gene immunohistochemistry of a sebaceous neoplasm is a poor predictor in regard to diagnosing Lynch syndrome.Genet Med 16 9, 711-716.

Original languageEnglish (US)
Pages (from-to)711-716
Number of pages6
JournalGenetics in Medicine
Issue number9
StatePublished - Sep 11 2014


  • Muir- Torre syndrome
  • immunohistochemistry
  • mismatch repair genes
  • sebaceous adenoma
  • sebaceous neoplasms

ASJC Scopus subject areas

  • Genetics(clinical)


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