ArticleMolecular genetics & genomic medicine2020
Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 5 citations in OpenAlex.
- AAV9-MediatedPharmaceutics · 2026Article
- Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome.Frontiers in oncology · 2024Article
- SHH medulloblastoma and very early onset of bowel polyps in a child withFrontiers in molecular neuroscience · 2023Review
- Medulloblastoma and Cowden syndrome: Further evidence of an association.Free neuropathology · 2022Article
- The Role of MicroRNAs in Therapeutic Resistance of Malignant Primary Brain Tumors.Frontiers in cell and developmental biology · 2021Review
- Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?Molecular genetics & genomic medicine · 2020Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMedulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MB
methodsComprehensive Next-Generation Sequencing panels of both tumor and patient blood samples were performed as molecular genetic characterization. The panels cover genes that are known to predispose to cancer.
resultsHere, we report on a patient with a pathogenic germline PTEN variant resulting in an early stop codon p.(Glu7Argfs*4) (ClinVar ID: 480383). The patient developed macrocephaly and MB
conclusionsWe propose that pathogenic PTEN variants may predispose to medulloblastoma, and show that remission was reached with current treatment protocols. The PTEN gene should be included in the genetic testing provided to patients who develop medulloblastoma at an early age. We recommend brain magnetic resonance imaging upon an unexpected acceleration of growth of head circumference for pediatric patients harboring pathogenic germline PTEN variants.
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