Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma

Article Biochemistry & Molecular Biology

Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

Dominik Sturm et al.

Summary: This study prospectively integrated DNA methylation profiling and targeted gene panel sequencing to evaluate their utility in routine neuropathology for newly diagnosed pediatric patients with CNS tumors. The integration of multi-omics improved diagnostic accuracy by refining DNA methylation classification, detecting relevant genetic alterations, and identifying cancer predisposition syndromes. Discrepancies between neuropathological classification and DNA methylation classification were particularly relevant for high-grade gliomas, and patients with lower-grade molecular profiles had improved survival.

NATURE MEDICINE (2023)

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Article Oncology

Incidence and survival of childhood central nervous system tumors in Denmark, 1997-2019

Anne Sophie Lind Helligsoe et al.

Summary: Incidence rates of childhood CNS tumors in Denmark remain stable but among the highest in the world. Despite improved survival rates in recent years for children aged 0-4 years, some subtypes still have a poor prognosis.

CANCER MEDICINE (2022)

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Article Neurosciences

Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort

Jon Foss-Skiftesvik et al.

Summary: Ependymoma, the second most common malignant brain tumor in children, has limited understanding of its genetic predisposition. This study used whole-genome sequencing and DNA methylation profiling to analyze a cohort of Danish children with ependymoma. The results revealed that less than 4% of childhood ependymoma is explained by genetic predisposition, primarily caused by pathogenic variants in NF2 and NF1 genes. Additionally, LZTR1 is suggested as a potential novel ependymoma predisposition gene.

ACTA NEUROPATHOLOGICA COMMUNICATIONS (2022)

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Article Oncology

Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors

Elise M. Fiala et al.

Summary: This study reported the results of prospective DNA sequencing in pediatric solid tumor patients, identifying germline variants associated with high and moderate penetrance genes, some of which were unexpected. Most patients with positive results underwent clinical genetics consultation, and some relatives also underwent cascade testing.

NATURE CANCER (2021)

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Article Multidisciplinary Sciences