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28-11-2022 | Muir-Torre Syndrome | Original Article

A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions

Authors: Meera Kattapuram, Christina Shabet, Sarah Austin, Michelle F. Jacobs, Erika Koeppe, Emily H. Smith, Lori Lowe, Tobias Else, Kelly B. Cha

Published in: Familial Cancer | Issue 3/2023

Abstract

Immunohistochemistry (IHC) of cutaneous sebaceous lesions (SL) can be used to screen patients for Lynch syndrome (LS). There is little data on rates of genetic referral and outcomes of genetic testing for patients with SL. This single-center retrospective study characterizes 400 + patients with SL, including IHC results, genetics referrals, and outcomes of genetic testing. Retrospective chart reviews were performed for patients with a pathology-confirmed diagnosis of SL at the University of Michigan between January 2009 and December 2019. 447 patients with 473 SL were identified. Excluding 20 patients with known LS, IHC was conducted in 173 (41%) patients. 92/173 (53%) patients had abnormal results. 69 of these 92 (75%) patients were referred to genetics. 32 additional patients were referred with normal IHC (n = 22) or without IHC (n = 10). Of 101 patients referred, 65 (64%) were seen and 47 (47%) completed genetic testing. 7/47 (15%) had pathogenic variants associated with LS, six with concordant abnormal IHC and one without IHC. Cancer genetics referral of patients with SL, particularly for lesions with abnormal IHC, yields a significant rate of LS diagnosis. Providers should consider genetics referral for patients with SL.

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Title: A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions
Authors: Meera Kattapuram
Christina Shabet
Sarah Austin
Michelle F. Jacobs
Erika Koeppe
Emily H. Smith
Lori Lowe
Tobias Else
Kelly B. Cha
Publication date: 28-11-2022
Publisher: Springer Netherlands
Keyword: Muir-Torre Syndrome
Published in: Familial Cancer / Issue 3/2023
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-022-00322-z

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