Position Paper: Challenges and Specific Strategies for Constitutional Mismatch Repair Deficiency Syndrome in Low-Resource Settings - PubMed

Position Paper: Challenges and Specific Strategies for Constitutional Mismatch Repair Deficiency Syndrome in Low-Resource Settings - PubMed

Position Paper: Challenges and Specific Strategies for Constitutional Mismatch Repair Deficiency Syndrome in Low-Resource Settings

Rejin Kebudi 1, Nisreen Amayiri 2, Malak Abedalthagafi 3, Asım Noor Rana 4, Salman Kirmani 5, Naureen Musthaq 6, Zakiya Al Lamki 7, Jamila El Houdzi 8, Hulya Yazici 9, Shahenda El-Naggar 10, Melissa Edwards 11, Vanessa J Bianchi 11, Carol Durno 12 13, Uri Tabori 11, Eric Bouffet 11, International RRD Consortium on Low-Resource Settings Panel

Affiliations 

• PMID: 32472748
 
• DOI: 10.1002/pbc.28309

Abstract

Germline biallelic mutations in one of the mismatch repair genes, mutS homolog 2, mutS homolog 6, mutL homolog 1, or postmeiotic segregation increased 2, result in one of the most aggressive cancer syndromes in humans termed as constitutional mismatch repair deficiency (CMMRD). Individuals with CMMRD are affected with multiple tumors arising from multiple organs during childhood, and these individuals rarely reach adulthood without specific interventions. The most common tumors observed are central nervous system, hematological, and gastrointestinal malignancies. The incidence of CMMRD is expected to be high in low-resource settings due to a high rate of consanguinity in these regions, and it is thought to be underrecognized and consequently underdiagnosed. This position paper is therefore important to provide a summary of the current situation, and to highlight the necessity of increasing awareness, diagnostic criteria, and surveillance to improve survival for patients and family members.

Keywords: BMMRD; CMMRD; CNS tumors; RRD; café au lait spots; cancer genetics; hematological malignancies gastrointestinal malignancies; neurofibromatosis; surveillance.

© 2020 Wiley Periodicals, Inc.

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