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Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome.
Hum Pathol. 2016 Mar; 49:1-9.HP

Abstract

Muir-Torre syndrome, a Lynch syndrome variant, is characterized by sebaceous neoplasia plus one or more malignancies, typically colon cancer. The significance of DNA mismatch repair (MMR) deficiency detection by immunohistochemistry (IHC) in colorectal carcinomas is well established and is recommended as a screening tool for Lynch syndrome in newly diagnosed colorectal carcinomas. In comparison, literature on IHC application to detect MMR proteins (MLH1, MSH2, MSH6, and PMS2) in sebaceous neoplasia has been less studied and has been derived almost exclusively from tertiary care centers. Herein we describe the largest series to date characterizing MMR deficiency in sebaceous neoplasms, as well as the relative frequencies of each deficiency. Two hundred sixteen consecutive sebaceous neoplasms (216 patients) were analyzed from a community practice setting (133 sebaceous adenomas, 68 sebaceomas, 15 sebaceous carcinomas). One hundred forty-three were MMR deficient (66%), of which 90 were MSH2/MSH6 deficient (63%), 27 MLH1/PMS2 deficient (19%), 22 MSH6 deficient (15%), and 4 PMS2 deficient (3%). MMR deficiency was significantly associated with site, with tumors off of the head and neck more likely to be MMR deficient (specificity 96%). In contrast to prior reports, no significant trend in MMR-deficient versus -nondeficient tumors was seen in age at presentation (median age, 68 versus 66), tumor-infiltrating lymphocytes, or tumor type. Given the low sensitivity of age < 60 years (30%), location off of the head and neck (41%), or presence of tumor-infiltrating lymphocytes (29%) in MMR deficiency detection, IHC screening programs should test all sebaceous neoplasms for MMR deficiency, regardless of their clinicopathological features.

Authors+Show Affiliations

Miraca Life Sciences Research Institute, Newton, MA 02464; Tufts Medical Center, Department of Dermatology, Boston, MA 02110.Miraca Life Sciences Research Institute, Newton, MA 02464.Miraca Life Sciences Research Institute, Newton, MA 02464.Miraca Life Sciences Research Institute, Newton, MA 02464; Tufts Medical Center, Department of Dermatology, Boston, MA 02110. Electronic address: jreimann@MiracaLS.com.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

26826402

Citation

Jessup, Chad J., et al. "Importance of Universal Mismatch Repair Protein Immunohistochemistry in Patients With Sebaceous Neoplasia as an Initial Screening Tool for Muir-Torre Syndrome." Human Pathology, vol. 49, 2016, pp. 1-9.
Jessup CJ, Redston M, Tilton E, et al. Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome. Hum Pathol. 2016;49:1-9.
Jessup, C. J., Redston, M., Tilton, E., & Reimann, J. D. (2016). Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome. Human Pathology, 49, 1-9. https://doi.org/10.1016/j.humpath.2015.10.005
Jessup CJ, et al. Importance of Universal Mismatch Repair Protein Immunohistochemistry in Patients With Sebaceous Neoplasia as an Initial Screening Tool for Muir-Torre Syndrome. Hum Pathol. 2016;49:1-9. PubMed PMID: 26826402.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome. AU - Jessup,Chad J, AU - Redston,Mark, AU - Tilton,Erin, AU - Reimann,Julie D R, Y1 - 2015/10/31/ PY - 2015/07/05/received PY - 2015/10/05/revised PY - 2015/10/08/accepted PY - 2016/1/31/entrez PY - 2016/1/31/pubmed PY - 2016/6/9/medline KW - MLH1 KW - MSH2 KW - MSH6 KW - Muir-Torre syndrome KW - PMS2 KW - Sebaceous neoplasia SP - 1 EP - 9 JF - Human pathology JO - Hum Pathol VL - 49 N2 - Muir-Torre syndrome, a Lynch syndrome variant, is characterized by sebaceous neoplasia plus one or more malignancies, typically colon cancer. The significance of DNA mismatch repair (MMR) deficiency detection by immunohistochemistry (IHC) in colorectal carcinomas is well established and is recommended as a screening tool for Lynch syndrome in newly diagnosed colorectal carcinomas. In comparison, literature on IHC application to detect MMR proteins (MLH1, MSH2, MSH6, and PMS2) in sebaceous neoplasia has been less studied and has been derived almost exclusively from tertiary care centers. Herein we describe the largest series to date characterizing MMR deficiency in sebaceous neoplasms, as well as the relative frequencies of each deficiency. Two hundred sixteen consecutive sebaceous neoplasms (216 patients) were analyzed from a community practice setting (133 sebaceous adenomas, 68 sebaceomas, 15 sebaceous carcinomas). One hundred forty-three were MMR deficient (66%), of which 90 were MSH2/MSH6 deficient (63%), 27 MLH1/PMS2 deficient (19%), 22 MSH6 deficient (15%), and 4 PMS2 deficient (3%). MMR deficiency was significantly associated with site, with tumors off of the head and neck more likely to be MMR deficient (specificity 96%). In contrast to prior reports, no significant trend in MMR-deficient versus -nondeficient tumors was seen in age at presentation (median age, 68 versus 66), tumor-infiltrating lymphocytes, or tumor type. Given the low sensitivity of age < 60 years (30%), location off of the head and neck (41%), or presence of tumor-infiltrating lymphocytes (29%) in MMR deficiency detection, IHC screening programs should test all sebaceous neoplasms for MMR deficiency, regardless of their clinicopathological features. SN - 1532-8392 UR - https://www.unboundmedicine.com/medline/citation/26826402/Importance_of_universal_mismatch_repair_protein_immunohistochemistry_in_patients_with_sebaceous_neoplasia_as_an_initial_screening_tool_for_Muir_Torre_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0046-8177(15)00433-5 DB - PRIME DP - Unbound Medicine ER -