Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms

Maegan E. Roberts, Douglas L. Riegert-Johnson, Brittany C. Thomas, Colleen S. Thomas, Michael G. Heckman, Murli Krishna, David J. Dicaudo, Alina G. Bridges, Katherine S. Hunt, Kandelaria M. Rumilla, Mark A. Cappel

Research output: Contribution to journalReview articlepeer-review

47 Scopus citations


Screening for the Muir-Torre variant of Lynch Syndrome (LS) using Mismatch Repair (MMR) gene immunohistochemistry (IHC) on sebaceous neoplasms (SNs) is technically feasible. To date, research into the clinical utility of MMR IHC for this indication is limited. We conducted a retrospective chart review of 90 patients with MMR IHC completed on at least one SN from January 2005 to May 2010. SNs included were adenomas, epitheliomas, carcinomas and basal and squamous cell carcinomas with sebaceous differentiation. Of the 90 patients, 13 (14 %) had genetically confirmed or fulfilled clinical criteria for a diagnosis of MTS and 51 patients (57 %) presented with an abnormal MMR IHC result (loss of one or more MMR proteins) on at least one SN. Abnormal IHC had a sensitivity of 85 %, specificity of 48 %, positive predictive value (PPV) of 22 % and negative predictive value (NPV) of 95 % when evaluating for MTS. When personal or family history of colorectal cancer (≥2 family members with a history of colorectal cancer) was taken into consideration, ignoring IHC results, sensitivity was 92 %, specificity was 99 %, PPV was 92 % and NPV was 99 %. MMR IHC on SNs when used to screen for MTS has poor diagnostic utility. We recommend that MMR IHC not be performed routinely on SNs when the patient does not have either personal or family history of colorectal cancer.

Original languageEnglish (US)
Pages (from-to)393-405
Number of pages13
JournalJournal of Genetic Counseling
Issue number3
StatePublished - Jun 2013


  • Immunohistochemistry
  • Lynch syndrome
  • Mismatch Repair Genes
  • Muir-Torre syndrome
  • Sebaceous neoplasms

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms'. Together they form a unique fingerprint.

Cite this