Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings.
BMMRD
CMMRD
CNS tumors
RRD
café au lait spots
cancer genetics
hematological malignancies gastrointestinal malignancies
neurofibromatosis
surveillance
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
01
01
2020
revised:
18
03
2020
accepted:
19
03
2020
pubmed:
31
5
2020
medline:
8
9
2020
entrez:
31
5
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
Neoplasm Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
e28309Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
Guyatt GH, Oxman AD, Vist GE, et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ. 2008;336(7650):924-926.
Bener A, Mohammad RR. Global distribution of consanguinity and their impact on complex diseases: genetic disorders from an endogamous population. Egypt J Med Hum Genet. 2017;18(4):315-320.
Tabori U, Hansford JR, Achatz MI, et al. Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood. Clin Cancer Res. 2017;23(11):e32-e37.
katharina Wimmer, CP Kratz, Vasen HFA, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European Consortium “Care for CMMRD” (C4CMMRD). J Med Genet. 2014;51(6):355-365.
Durno CA, Sherman PM, Aronson M, et al. Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome. Eur J Cancer. 2015;51(8):977-983.
Abedalthagafi M. Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies. Oncotarget. 2018;9(83):35458-35469.
Campbell BB, Light N, Fabrizio D, et al. Comprehensive analysis of hypermutation in human cancer. Cell. 2017;171(5):1042-1056.
Amayiri N, Tabori U, Campbell B, et al. High frequency of mismatch repair deficiency among pediatric high grade gliomas in Jordan. Int J Cancer. 2016;138(2):380-385.
Baris HN, Barnes-Kedar I, Toledano H, et al. Constitutional mismatch repair deficiency in Israel: high proportion of founder mutations in MMR genes and consanguinity. Pediatr Blood Cancer. 2016;63(3):418-427.
Kebudi R. Pediatric oncology in Turkey. J Pediatr Hematol Oncol. 2012;34(Suppl 1):S12-S14.
Magrath I, Steliarova-Foucher E, Epelman S, et al. Paediatric cancer in low-income and middle-income countries. Lancet Oncol. 2013;14(3):e104-e16.
Silbermann M, Al-Hadad S, Ashraf S, et al. MECC regional initiative in pediatric palliative care: middle eastern course on pain management. J Pediatr Hematol Oncol. 2012;34(Suppl 1):S1-S11.
Durno C, Boland CR, Cohen S, et al. Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Am J Gastroenterol. 2017;112(5):682-690.
Durno CA, Holter S, Sherman PM, Gallinger S. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. Am J Gastroenterol. 2010;105(11):2449-2456.
Aronson M, Gallinger S, Cohen Z, et al. Gastrointestinal findings in the largest series of patients with hereditary biallelic mismatch repair deficiency syndrome: report from the international consortium. Am J Gastroenterol. 2016;111(2):275-284.
Vasen HFA, Ghorbanoghli Z, Bourdeaut F, et al. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D”(C4CMMR-D). J Med Genet. 2014;51(5):283-293.
Shuen AY, Lanni S, Panigrahi GB, et al. Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue. J Clin Oncol. 2019;37(6):461-470.
Bakry D, Aronson M, Durno C, et al. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. Eur J Cancer. 2014;50(5):987-996.
Bodo S, Colas C, Buhard O, et al. Diagnosis of constitutional mismatch repair-deficiency syndrome based on microsatellite instability and lymphocyte tolerance to methylating agents. Gastroenterology. 2015;149(4):1017-1029.
Durno CA, Aronson M, Tabori U, Malkin D, Gallinger S, Chan HSL. Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred. Pediatr Blood Cancer. 2012;59(4):652-656.
Bouffet E, Larouche V, Campbell BB, et al. Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency. J Clin Oncol. 2016;34(19):2206-2211.
Stritzberger J, Distel L, Buslei R, Fietkau R, Putz F. Acquired temozolomide resistance in human glioblastoma cell line U251 is caused by mismatch repair deficiency and can be overcome by lomustine. Clin Transl Oncol. 2018;20(4):508-516.
AlHarbi M, Ali Mobark N, AlMubarak L, et al. Durable response to nivolumab in a pediatric patient with refractory glioblastoma and constitutional biallelic mismatch repair deficiency. Oncologist. 2018;23(12):1401-1406.
Leenders EKSM, Westdorp H, Brüggemann RJ, et al. Cancer prevention by aspirin in children with constitutional mismatch repair deficiency (CMMRD). Eur J Hum Genet. 2018;26(10):1417-1423.
Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the us multi-society task force on colorectal cancer. Gastroenterology. 2014;147(2):502-526.