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Uptodate Reference Title
Evaluation for Muir-Torre syndrome in patients with sebaceous tumors
Evaluation for Muir-Torre syndrome in patients with sebaceous tumors
MTS: Muir-Torre syndrome; IHC: immunohistochemistry; MMR: mismatch repair.
* Positive genetic testing confirms the diagnosis. Patients with a negative genetic test in whom suspicion for MTS is still high may be further tested for germline variants in MUTYH, associated with familial adenomatous polyposis. Refer to UpToDate topics on Muir-Torre syndrome for additional information.
Reference:
Roberts ME, Riegert-Johnson DL, Thomas BC, et al. A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. Genet Med 2014; 16:711.
