Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings
PEDIATRIC BLOOD & CANCER, vol.67, no.8, 2020 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 67 Issue: 8
- Publication Date: 2020
- Doi Number: 10.1002/pbc.28309
- Journal Name: PEDIATRIC BLOOD & CANCER
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Agricultural & Environmental Science Database, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
- Keywords: BMMRD, cafe au lait spots, cancer genetics, CMMRD, CNS tumors, hematological malignancies gastrointestinal malignancies, neurofibromatosis, RRD, surveillance, EUROPEAN CONSORTIUM CARE, SOCIETY TASK-FORCE, CONSENSUS STATEMENT, SURVEILLANCE, MANAGEMENT, RECOMMENDATIONS, GUIDELINES, MUTATIONS, GRADE
- Istanbul University Affiliated: Yes
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.