ArticleBrain pathology (Zurich, Switzerland)2019
Alternative lengthening of telomeres, ATRX loss and H3-K27M mutations in histologically defined pilocytic astrocytoma with anaplasia.
Article in Brain pathology (Zurich, Switzerland), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas.Archives of pathology & laboratory medicine · 2022Guideline
- Tectal glioma with pilocytic astrocytoma morphology carrying a histone H3 K27M mutation and malignant transformation: a literature review.Brain tumor pathology · 2026Article
- Antitumor Effect of Selumetinib for Brainstem Glioma in an Adult With NF1: A Case Report.Neurosurgery practice · 2025Article
- Adult spinal cord diffuse midline gliomas with piloid features have a better prognosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Chemotherapy in adult patients with pilocytic astrocytoma: a retrospective multicenter cohort study.Journal of neuro-oncology · 2025Article
- Co-detection of mutations and methylations in cerebrospinal fluid ctdna for minimally-invasive diagnosis of brainstem glioma.Journal of experimental & clinical cancer research : CR · 2025Article
- Paediatric low-grade glioma: the role of classical pathology in integrated diagnostic practice.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- A High-Grade Glioma, Not Elsewhere Classified in an Older Adult with Discordant Genetic and Epigenetic Analyses.Biomedicines · 2024Article
- The Role of Glia Telomere Dysfunction in the Pathogenesis of Central Nervous System Diseases.Molecular neurobiology · 2024Review
- Freiburg Neuropathology Case Conference: : 68-Year-Old Patient with Slurred Speech, Double Vision, and Increasing Gait Disturbance.Clinical neuroradiology · 2024Article
- Pediatric-Like Brain Tumors in Adults.Advances and technical standards in neurosurgery · 2024Review
- Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?Frontiers in molecular neuroscience · 2024Review
- A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation.Acta neuropathologica · 2023Article
- Malignant transformation of adult-onset pilocytic astrocytoma to diffuse leptomeningeal glioneuronal tumor within the thoracic spine: a case report and review of the literature.Acta neurochirurgica · 2023Review
- Cancer-associated SMARCAL1 loss-of-function mutations promote alternative lengthening of telomeres and tumorigenesis in telomerase-negative glioblastoma cells.Neuro-oncology · 2023Article
- Adult-type and Pediatric-type Diffuse Gliomas : What the Neuroradiologist Should Know.Clinical neuroradiology · 2023Review
- Clinical, histopathological and molecular risk factors for recurrence of pilocytic astrocytomas: brainstem/spinal location, nestin expression and gain of 7q and 19 are associated with early tumor recurrence.Brain tumor pathology · 2023Article
- Molecular Heterogeneity in BRAF-Mutant Gliomas: Diagnostic, Prognostic, and Therapeutic Implications.Cancers · 2023Review
- Pathological perspectives in pilocytic astrocytomas: Extent of resection as the sole critical factor for recurrence-free survival, and the challenge of evaluating conclusions derived from limited data.Free neuropathology · 2023Article
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Authors and funding
19 authors at 11 institutions in 3 countries.
Funding
Abstract
Anaplasia may be identified in a subset of tumors with a presumed pilocytic astrocytoma (PA) component or piloid features, which may be associated with aggressive behavior, but the biologic basis of this change remains unclear. Fifty-seven resections from 36 patients (23 M, 13 F, mean age 32 years, range 3-75) were included. A clinical diagnosis of NF1 was present in 8 (22%). Alternative lengthening of telomeres (ALT) was assessed by telomere-specific FISH and/or CISH. A combination of immunohistochemistry, DNA sequencing and FISH were used to study BRAF, ATRX, CDKN2A/p16, mutant IDH1 p.R132H and H3-K27M proteins. ALT was present in 25 (69%) cases and ATRX loss in 20 (57%), mostly in the expected association of ALT+/ATRX- (20/24, 83%) or ALT-/ATRX+ (11/11, 100%). BRAF duplication was present in 8 (of 26) (31%). H3-K27M was present in 5 of 32 (16%) cases, all with concurrent ATRX loss and ALT. ALT was also present in 9 (of 11) cases in the benign PA precursor, 7 of which also had ATRX loss in both the precursor and the anaplastic tumor. In a single pediatric case, ALT and ATRX loss developed in the anaplastic component only, and in another adult case, ALT was present in the PA-A component only, but ATRX was not tested. Features associated with worse prognosis included subtotal resection, adult vs. pediatric, presence of a PA precursor preceding a diagnosis of anaplasia, necrosis, presence of ALT and ATRX expression loss. ALT and ATRX loss, as well as alterations involving the MAPK pathway, are frequent in PA with anaplasia at the time of development of anaplasia or in their precursors. Additionally, a small subset of PA with anaplasia have H3-K27M mutations. These findings further support the concept that PA with anaplasia is a neoplasm with heterogeneous genetic features and alterations typical of both PA and diffuse gliomas.
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