ArticleAJNR. American journal of neuroradiology2018
Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.
Article in AJNR. American journal of neuroradiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.European journal of human genetics : EJHG · 2024Guideline
- The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments.Familial cancer · 2026Review
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Low-flow vascular malformations without arteriovenous shunting of the central nervous system: a pictorial review.Insights into imaging · 2026Article
- Incidentally discovered developmental venous anomaly with an associated white matter changes in a 7-year-old girl: a case report and literature review.Journal of surgical case reports · 2026Article
- Constitutional Mismatch Repair Deficiency, the Most Aggressive Cancer Predisposition Syndrome : Clinical Presentation, Surveillance, and Management.Journal of Korean Neurosurgical Society · 2025Article
- Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.European radiology · 2024Article
- Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.Familial cancer · 2024Article
- Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency.The Indian journal of radiology & imaging · 2024Article
- Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.NPJ precision oncology · 2024Article
- Symptomatic Developmental Venous Anomaly: State-of-the-Art Review on Genetics, Pathophysiology, and Imaging Approach to Diagnosis.AJNR. American journal of neuroradiology · 2023Review
- Familial CCM Genes Might Not Be Main Drivers for Pathogenesis of Sporadic CCMs-Genetic Similarity between Cancers and Vascular Malformations.Journal of personalized medicine · 2023Review
- Using comprehensive genomic and functional analyses for resolving genotype-phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study.Human genetics · 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
- Neonatal Developmental Venous Anomalies: Clinicoradiologic Characterization and Follow-Up.AJNR. American journal of neuroradiology · 2020Article
- Low-grade astrocytoma in the setting of a developmental venous anomaly.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.AJNR. American journal of neuroradiology · 2020Article
- Reply: "Developmental venous anomaly depicted incidentally in fetal MRI and confirmed in post-natal MRI".Neuroradiology · 2019Article
- Pakistan National Guidelines for Pediatric High-Grade Gliomas.Pakistan journal of medical sciencesArticle
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeBiallelic constitutional mutations in DNA mismatch repair genes cause a distinct syndrome, constitutional mismatch repair deficiency syndrome (CMMRD), characterized by cancers from multiple organs, most commonly brain tumors, during childhood. Surveillance protocols include total and brain MR imaging among other modalities to enable early detection of tumors. Brain surveillance scans revealed prominent brain developmental venous anomalies (DVAs) in some patients. DVAs are benign vascular anomalies, and their incidence in the general population is 2.6%-6.4%. Most developmental venous anomalies are asymptomatic and are found incidentally. Our purpose was to assess the prevalence of DVAs in CMMRD patients and describe their phenotype. MATERIALS AND
methodsA retrospective descriptive analysis of brain MR imaging studies from 10 patients from 3 families with CMMRD was performed. Analysis included the number of developmental venous anomalies, location, draining vessels, and associated vascular anomalies (ie, cavernomas), with clinical correlation of symptoms and tumors.
resultsAll 10 patients had ≥2 developmental venous anomalies, and 2 had, in addition, non-therapy-induced cavernomas. There was no clinically symptomatic intracranial bleeding from developmental venous anomalies. Six patients had malignant brain tumors. The location of brain tumors was not adjacent to the developmental venous anomalies. No new developmental venous anomalies developed during follow-up.
conclusionsThe occurrence of multiple developmental venous anomalies in all our patients with CMMRD suggests that developmental venous anomalies may be a characteristic of this syndrome that has not been previously described. If confirmed, this quantifiable feature can be added to the current scoring system and could result in early implementation of genetic testing and surveillance protocols, which can be life-saving for these patients.
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