ArticleEuropean journal of human genetics : EJHG2013
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 49 citations in OpenAlex.
- Constitutional Mismatch Repair Deficiency, the Most Aggressive Cancer Predisposition Syndrome : Clinical Presentation, Surveillance, and Management.Journal of Korean Neurosurgical Society · 2025Article
- Article
- Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygousFrontiers in oncology · 2023Article
- Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.International journal of molecular sciences · 2021Review
- Primary cervical glioblastoma multiforme as a presentation of constitutional mismatch repair deficiency: Case report and literature review.Annals of medicine and surgery (2012) · 2021Article
- Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.AJNR. American journal of neuroradiology · 2020Article
- Association between hereditary predisposition to common cancers and congenital multimalformations.Congenital anomalies · 2020Article
- Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.Frontiers in pediatrics · 2020Review
- Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.AJNR. American journal of neuroradiology · 2018Article
- Rare compound heterozygous mutations in geneClinical case reports · 2018Article
- Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes.Journal of Korean Neurosurgical Society · 2018Review
- Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.The British journal of dermatology · 2017Review
- Msh2 deficiency leads to dysmyelination of the corpus callosum, impaired locomotion, and altered sensory function in mice.Scientific reports · 2016Article
- Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.Pediatric blood & cancer · 2016Article
- Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.Journal of genetic counseling · 2014Article
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Authors and funding
17 authors at 8 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of CMMR-D is often delayed in pediatric cancer patients. Here, we report of three new CMMR-D patients all of whom developed more than one malignancy. The common finding in these three patients is agenesis of the corpus callosum (ACC). Gray matter heterotopia is present in two patients. One of the 57 previously reported CMMR-D patients with brain tumors (therefore all likely had cerebral imaging) also had ACC. With the present report the prevalence of cerebral malformations is at least 4/60 (6.6%). This number is well above the population birth prevalence of 0.09-0.36 live births with these cerebral malformations, suggesting that ACC and heterotopia are features of CMMR-D. Therefore, the presence of cerebral malformations in pediatric cancer patients should alert to the possible diagnosis of CMMR-D. ACC and gray matter heterotopia are the first congenital malformations described to occur at higher frequency in CMMR-D patients than in the general population. Further systematic evaluations of CMMR-D patients are needed to identify possible other malformations associated with this syndrome.
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