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An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome.
JAMA Dermatol. 2020 06 01; 156(6):676-680.JD

Abstract

Importance

Appropriate use criteria for Muir-Torre syndrome (MTS) screening suggest that mismatch repair protein (MMRP) immunohistochemical (IHC) testing is usually appropriate in patients with 2 or more sebaceous neoplasms (SNs). While MTS is known to be caused by a germline mutation in mismatch repair genes, data are limited as to whether individual sebaceous tumors in these patients with multiple lesions show identical MMRP IHC staining patterns.

Objective

To determine concordance of MMRP IHC staining patterns in lesions of patients with MTS who have multiple SNs.

Design, Setting, and Participants

This retrospective single-center case series evaluated 38 SNs in 11 patients with MTS confirmed by genetic testing for MMRP IHC staining patterns. Tumor sites were classified as either facial or extrafacial. Data were collected between January 1, 2007, and January 1, 2018.

Main Outcomes and Measures

In each patient, MMRP IHC staining patterns for SNs were compared with one another to evaluate intrapatient concordance between lesions, and to the patient's known germline mutation.

Results

A total of 11 patients (7 women and 4 men) with MTS, with a mean (SD) age of 59.3 (10.6) years at time of SN biopsy, were identified. There was high concordance between MMRP IHC staining results (2-4 lesions per patient) and the patient's mutation status, with 36 of 38 total lesions (95%) matching (sensitivity, 94.7%; 95% CI, 82.3%-99.4%). Extrafacial site tumors represented 16 of 38 total lesions (42%) and demonstrated 100% concordance of IHC results to germline mutation. Only 1 of 11 patients (9%) demonstrated discordant results, with both lesions in this patient occurring on a facial site.

Conclusions and Relevance

In patients with known MTS, SNs present with highly concordant MMRP IHC staining profiles across multiple lesions. There is also a strong association with underlying germline mutations. A diagnosis of MTS might be supported by MMRP IHC when the pretest probability is high.

Authors+Show Affiliations

Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.Department of Dermatology, University of Minnesota, Minneapolis.Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia.Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia.Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32267475

Citation

Nguyen, Cuong V., et al. "An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome." JAMA Dermatology, vol. 156, no. 6, 2020, pp. 676-680.
Nguyen CV, Gaddis KJ, Stephens MR, et al. An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome. JAMA Dermatol. 2020;156(6):676-680.
Nguyen, C. V., Gaddis, K. J., Stephens, M. R., Seykora, J. T., & Chu, E. Y. (2020). An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome. JAMA Dermatology, 156(6), 676-680. https://doi.org/10.1001/jamadermatol.2020.0433
Nguyen CV, et al. An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome. JAMA Dermatol. 2020 06 1;156(6):676-680. PubMed PMID: 32267475.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome. AU - Nguyen,Cuong V, AU - Gaddis,Kevin J, AU - Stephens,Michael R, AU - Seykora,John T, AU - Chu,Emily Y, PY - 2020/4/9/pubmed PY - 2021/2/20/medline PY - 2020/4/9/entrez SP - 676 EP - 680 JF - JAMA dermatology JO - JAMA Dermatol VL - 156 IS - 6 N2 - Importance: Appropriate use criteria for Muir-Torre syndrome (MTS) screening suggest that mismatch repair protein (MMRP) immunohistochemical (IHC) testing is usually appropriate in patients with 2 or more sebaceous neoplasms (SNs). While MTS is known to be caused by a germline mutation in mismatch repair genes, data are limited as to whether individual sebaceous tumors in these patients with multiple lesions show identical MMRP IHC staining patterns. Objective: To determine concordance of MMRP IHC staining patterns in lesions of patients with MTS who have multiple SNs. Design, Setting, and Participants: This retrospective single-center case series evaluated 38 SNs in 11 patients with MTS confirmed by genetic testing for MMRP IHC staining patterns. Tumor sites were classified as either facial or extrafacial. Data were collected between January 1, 2007, and January 1, 2018. Main Outcomes and Measures: In each patient, MMRP IHC staining patterns for SNs were compared with one another to evaluate intrapatient concordance between lesions, and to the patient's known germline mutation. Results: A total of 11 patients (7 women and 4 men) with MTS, with a mean (SD) age of 59.3 (10.6) years at time of SN biopsy, were identified. There was high concordance between MMRP IHC staining results (2-4 lesions per patient) and the patient's mutation status, with 36 of 38 total lesions (95%) matching (sensitivity, 94.7%; 95% CI, 82.3%-99.4%). Extrafacial site tumors represented 16 of 38 total lesions (42%) and demonstrated 100% concordance of IHC results to germline mutation. Only 1 of 11 patients (9%) demonstrated discordant results, with both lesions in this patient occurring on a facial site. Conclusions and Relevance: In patients with known MTS, SNs present with highly concordant MMRP IHC staining profiles across multiple lesions. There is also a strong association with underlying germline mutations. A diagnosis of MTS might be supported by MMRP IHC when the pretest probability is high. SN - 2168-6084 UR - https://www.unboundmedicine.com/medline/citation/32267475/An_Intrapatient_Concordance_Study_of_Mismatch_Repair_Protein_Immunohistochemical_Staining_Patterns_in_Patients_With_Muir_Torre_Syndrome_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/10.1001/jamadermatol.2020.0433 DB - PRIME DP - Unbound Medicine ER -