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Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low‐resource settings
Author(s) -
Kebudi Rejin,
Amayiri Nisreen,
Abedalthagafi Malak,
Rana Asım Noor,
Kirmani Salman,
Musthaq Naureen,
Lamki Zakiya Al,
Houdzi Jamila El,
Yazici Hulya,
ElNaggar Shahenda,
Edwards Melissa,
Bianchi Vanessa J.,
Durno Carol,
Tabori Uri,
Bouffet Eric
Publication year - 2020
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28309
Subject(s) - medicine , dna mismatch repair , lynch syndrome , germline , bioinformatics , cancer , genetics , gene , biology , colorectal cancer
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.