LQCL2315 - CMLE - SUBCLONAL MLH1 LOSS IN ENDOMETRIAL CARCINOMA: CLINICAL AND LABORATORY IMPLICATIONS-SUBCLONAL MLH1 LOSS IN ENDOMETRIAL CARCINOMA: CLINICAL AND LABORATORY IMPLICATIONS

SUBCLONAL MLH1 LOSS IN ENDOMETRIAL CARCINOMA: CLINICAL AND LABORATORY IMPLICATIONS

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The document discusses molecular diagnostics related to mismatch repair (MMR) protein deficiency and microsatellite instability in endometrial adenocarcinoma. It outlines the importance of recognizing MMR protein expression patterns, such as loss of expression and MLH1 promoter methylation, and the implications for clinical management. The case study highlights the challenges of interpreting immunohistochemistry and methylation assay results, particularly in cases of heterogeneous protein expression. Clonal loss of MMR proteins and its significance in identifying hereditary cancer risks, like Lynch syndrome, is also covered. The clinical utility of microsatellite instability testing and its implications for targeted therapies, such as immune checkpoint inhibitors in MMR-deficient cancers, are discussed. The document emphasizes the importance of accurately characterizing the patient's microsatellite status for appropriate treatment decisions. It concludes by underlining the clinical importance of recognizing heterogeneous expression patterns in MMR protein testing for improved diagnostic accuracy and patient management.

Keywords

molecular diagnostics

mismatch repair protein deficiency

microsatellite instability

endometrial adenocarcinoma

MMR protein expression patterns

MLH1 promoter methylation

immunohistochemistry

methylation assay

clonal loss of MMR proteins

Lynch syndrome