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Mismatch Repair Protein Expression in Endometrioid Intraepithelial Neoplasia/Atypical Hyperplasia: Should We Screen for Lynch Syndrome in Precancerous Lesions?
Lucas, Elena; Chen, Hao; Molberg, Kyle; Castrillon, Diego H; Rivera Colon, Glorimar; Li, Long; Hinson, Stacy; Thibodeaux, Joel; Lea, Jayanthi; Miller, David S; Zheng, Wenxin.
Afiliação
  • Lucas E; Departments of Pathology (E.L., H.C., K.M., D.H.C., G.R.C., L.L., S.H., J.T., W.Z.) Obstetrics and Gynecology (J.L., D.S.M., W.Z.) Harold C. Simmons Comprehensive Cancer Center (E.L., D.H.C, J.L., D.S.M., W.Z.), UTSW Medical Center, Dallas, Texas.
Int J Gynecol Pathol ; 38(6): 533-542, 2019 Nov.
Article em En | MEDLINE | ID: mdl-30383610
ABSTRACT
Screening for Lynch syndrome (LS) is routinely performed in patients with endometrial carcinoma. Currently, no screening recommendations exist for LS in precancerous lesions. The study goal was to determine the incidence of abnormal protein expression in endometrioid intraepithelial neoplasia/atypical hyperplasia (EIN/AH). We analyzed mismatch repair (MMR) protein expression by immunohistochemistry in EIN/AH concurrent with MMR-deficient endometrial carcinomas, and in endometrial biopsy/curettage specimens with EIN/AH from an unselected group of patients. Of 63 patients with MMR-deficient endometrial carcinoma, 34 demonstrated loss of MLH1/PMS2 expression; 1 showed loss of PMS2 alone; 12 showed loss of MSH2/MSH6, and 15 had loss of MSH6 alone. Genetic testing identified deleterious mutations in 14 cases (LS). 15 tumors demonstrated MLH1 promoter hypermethylation. Abnormal MMR expression in EIN/AH and adjacent carcinoma was concordant in 100% of LS cases and 71% of MLH1 promoter hypermethylation cases. Of 118 patients from the unselected group with EIN/AH, 4 (3%) cases demonstrated absent expression of one or more MMR proteins. Of these, 2 patients were later confirmed to have deleterious mutations in subsequent specimens with endometrial carcinoma. The prevalence of abnormal MMR expression in EIN/AH adjacent to carcinoma and in the unselected group of patients with EIN/AH is similar to the reported prevalence of LS in endometrial carcinoma. Identifying patients at high risk for LS through abnormal MMR expression in EIN/AH provides the benefit of early surveillance, treatment and timely diagnosis for the patient and affected family members.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lesões Pré-Cancerosas / Carcinoma in Situ / Neoplasias Colorretais Hereditárias sem Polipose / Neoplasias do Endométrio / Hiperplasia Endometrial / Reparo de Erro de Pareamento de DNA / Proteína 1 Homóloga a MutL Tipo de estudo: Guideline / Risk_factors_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Revista: Int J Gynecol Pathol Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lesões Pré-Cancerosas / Carcinoma in Situ / Neoplasias Colorretais Hereditárias sem Polipose / Neoplasias do Endométrio / Hiperplasia Endometrial / Reparo de Erro de Pareamento de DNA / Proteína 1 Homóloga a MutL Tipo de estudo: Guideline / Risk_factors_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Revista: Int J Gynecol Pathol Ano de publicação: 2019 Tipo de documento: Article