ReviewHaematologica2010
Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.
Review in Haematologica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Guideline
- Investigating knowledge and attitudes toward genetic testing and counseling among palestinians.Scientific reports · 2025Article
- Article
- An isolated childhood myeloid sarcoma with germline MSH6 mutation-a case report.Translational pediatrics · 2021Article
- Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous population.BMC pediatrics · 2021Article
- Article
- [Genetic predisposition to childhood cancer].Der Pathologe · 2018Review
- MSH6 haploinsufficiency at relapse contributes to the development of thiopurine resistance in pediatric B-lymphoblastic leukemia.Haematologica · 2018Article
- Association of MSH6 mutation with glioma susceptibility, drug resistance and progression.Molecular and clinical oncology · 2016Article
- Successful matched sibling cord blood transplant for ALL in a child with constitutional mismatch repair deficiency syndrome.Bone marrow transplantation · 2016Article
- Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.The American journal of gastroenterology · 2016Article
- Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.PloS one · 2015Article
- Repair of endogenous DNA base lesions modulate lifespan in mice.DNA repair · 2014Article
- Inter-individual variation in DNA repair capacity: a need for multi-pathway functional assays to promote translational DNA repair research.DNA repair · 2014Article
- Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.European journal of human genetics : EJHG · 2013Article
- miR-1279, miR-548j, miR-548m, and miR-548d-5p binding sites in CDSs of paralogous and orthologous PTPN12, MSH6, and ZEB1 Genes.BioMed research international · 2013Article
- Molecular characterisation of murine acute myeloid leukaemia induced by 56Fe ion and 137Cs gamma ray irradiation.Mutagenesis · 2013Article
- Article
- Metachronous occurrence of nonradiation-induced brain cavernous hemangioma and medulloblastoma in a child with neurofibromatosis type I phenotype.Journal of pediatric neurosciences · 2012Article
- Cooperative nuclear localization sequences lend a novel role to the N-terminal region of MSH6.PloS one · 2011Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma. We report on a case with constitutional mismatch repair deficiency caused by a novel MSH6 mutation leading to a T-cell lymphoma and colonic adenocarcinoma at six and 13 years of age, respectively. A review of the literature on hematologic malignancies in constitutional mismatch repair deficiency showed that in almost half of the 47 known constitutional mismatch repair deficiency families, at least one individual is affected by a hematologic malignancy, predominantly T-cell lymphomas. However, diagnosing constitutional mismatch repair deficiency may be difficult when the first child is affected by leukemia/lymphoma, but identification of the causative germline mutation is of vital importance: (i) to identify relatives at risk and exclude an increased risk in non-mutation carriers; (ii) to prevent hematopoietic stem cell transplantation from sibling donors also carrying a biallelic germline mutation; and (iii) to implement effective surveillance programs for mutation carriers, that may reduce constitutional mismatch repair deficiency-associated mortality.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.