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Constitutional mismatch repair deficiency (CMMRD) is a rare genetic disorder caused by mutations in both copies of mismatch repair (MMR) genes. First identified 25 years ago, it is associated with an extremely high lifelong risk of cancer, including haematologic, brain, and gastrointestinal malignancies, as well as non-cancerous features. The understanding of this condition has advanced, and new diagnostic assays for CMMRD have been developed. Surveillance protocols should be updated based on recent observational studies evaluating their effectiveness.
A team of 72 experts from the European Reference Network GENTURIS and the European care for CMMRD consortium, along with a patient representative, developed recommendations for CMMRD diagnosis, genetic counselling, surveillance, quality of life, and clinical management. These were based on a systematic literature search, comprehensive review, and a modified Delphi process. Recommendations for the diagnosis of CMMRD provide testing criteria, propose strategies for CMMRD testing, and define CMMRD diagnostic criteria. Recommendations for surveillance cover each CMMRD-associated tumour type and contain information on starting age, frequency, and surveillance modality. Recommendations for clinical management cover cancer treatment, management of benign tumours or non-neoplastic features, and chemoprevention. Recommendations also address genetic counselling and quality of life.
Based on existing guidelines and currently available data, 82 recommendations to enhance and standardize care for patients with CMMRD in Europe are presented in this article. These recommendations are intended as guidelines and can be adjusted based on individual decisions. Read the full article here.