title: A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Genetic Counseling, GeneDx, Gaithersburg, Maryland, USA.
authors.forename: Maegan E
authors.initials: ME
authors.lastname: Roberts
authors.affiliation: 1] Department of Medical Genetics, Mayo Clinic, Jacksonville, Florida, USA [2] Department of Gastroenterology, Mayo Clinic, Jacksonville, Florida, USA.
authors.forename: Douglas L
authors.initials: DL
authors.lastname: Riegert-Johnson
authors.affiliation: Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Brittany C
authors.initials: BC
authors.lastname: Thomas
authors.affiliation: Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Kandelaria M
authors.initials: KM
authors.lastname: Rumilla
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, USA.
authors.forename: Colleen S
authors.initials: CS
authors.lastname: Thomas
authors.affiliation: Department of Health Sciences Research, Mayo Clinic, Jacksonville, Florida, USA.
authors.forename: Michael G
authors.initials: MG
authors.lastname: Heckman
authors.affiliation: Clinical Research Internship Study Program, Mayo Clinic, Jacksonville, Florida, USA.
authors.forename: Jennifer U
authors.initials: JU
authors.lastname: Purcell
authors.affiliation: Department of Genetics, Group Health Cooperative, Seattle, Washington, USA.
authors.forename: Nancy B
authors.initials: NB
authors.lastname: Hanson
authors.affiliation: Department of Genetics, Group Health Cooperative, Seattle, Washington, USA.
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Leppig
authors.affiliation: Department of Genetics, Group Health Cooperative, Seattle, Washington, USA.
authors.forename: Justin
authors.initials: J
authors.lastname: Lim
authors.affiliation: Department of Dermatology, Mayo Clinic, Jacksonville, Florida, USA.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Cappel
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D015897:Comorbidity; D005260:Female; D056726:Genetic Association Studies; D056426:Genetic Loci; D018095:Germ-Line Mutation; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000453:epidemiology* / Q000209:etiology*; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D012306:Risk; D012307:Risk Factors; D012626:Sebaceous Gland Neoplasms / Q000150:complications* / Q000175:diagnosis
chemical_list: C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein