ArticleActa neuropathologica2021
Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study.
Article in Acta neuropathologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 82 citations in OpenAlex.
- Low-Level Cerebrospinal Fluid β-hCG Elevation in Patients with Pineal Parenchymal Tumors: A Four-Case Series and Diagnostic Caution.Journal of clinical medicine · 2026Article
- The future of targeted therapies for pediatric central nervous system tumors.Neuro-oncology advances · 2026Review
- A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.Cancer cell · 2026Article
- Incidence of Pineal Tumors.Advances and technical standards in neurosurgery · 2026Review
- Neurosurgical management of pineal lesions: Insights from a single-center study of 27 cases.BioMedicine · 2026Article
- Histopathology and Molecular Pathology of Pineal Region Tumors.Advances and technical standards in neurosurgery · 2026Review
- Pineal Gland Parenchyma Tumors.Advances and technical standards in neurosurgery · 2026Review
- Descriptive and molecular analysis of pineal parenchymal tumors with clinical correlation.BMC cancer · 2025Article
- Clinico-radiological Analysis and outcomes of management of pineal region space occupying lesions: A multi-departmental, retrospective case series from Pakistan.Pakistan journal of medical sciences · 2025Article
- Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.Familial cancer · 2025Review
- Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes.Acta neuropathologica communications · 2025Article
- Use of DNA Methylation Profiling as a Molecular Classification Tool for Paediatric Central Nervous System Tumours: A Middle-Income Country Population-Based Study.Neuropathology and applied neurobiology · 2025Article
- FOXR2 activation is not exclusive of CNS neuroblastoma.Neuro-oncology · 2025Article
- Ultra-low-input cell-free DNA sequencing for tumor detection and characterization in a real-world pediatric brain tumor cohort.Acta neuropathologica communications · 2025Article
- An imbalance between proliferation and differentiation underlies the development of microRNA-defective pineoblastoma.Genes & development · 2025Article
- Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Recent Advances in Pineoblastoma Research: Molecular Classification, Modelling and Targetable Vulnerabilities.Cancers · 2025Review
- A bibliometric analysis of the top 100 most cited articles on pineal parenchymal tumors worldwide.Brain & spine · 2025Article
- FOXR2 in cancer development: emerging player and therapeutic opportunities.Oncology research · 2025Review
- MYCN as an oncogene in pediatric brain tumors.Frontiers in oncology · 2025Review
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Authors and funding
32 authors at 16 institutions in 7 countries.
Funding
Abstract
Recent genomic studies have shed light on the biology and inter-tumoral heterogeneity underlying pineal parenchymal tumors, in particular pineoblastomas (PBs) and pineal parenchymal tumors of intermediate differentiation (PPTIDs). Previous reports, however, had modest sample sizes and lacked the power to integrate molecular and clinical findings. The different proposed molecular group structures also highlighted a need to reach consensus on a robust and relevant classification system. We performed a meta-analysis on 221 patients with molecularly characterized PBs and PPTIDs. DNA methylation profiles were analyzed through complementary bioinformatic approaches and molecular subgrouping was harmonized. Demographic, clinical, and genomic features of patients and samples from these pineal tumor groups were annotated. Four clinically and biologically relevant consensus PB groups were defined: PB-miRNA1 (n = 96), PB-miRNA2 (n = 23), PB-MYC/FOXR2 (n = 34), and PB-RB1 (n = 25). A final molecularly distinct group, designated PPTID (n = 43), comprised histological PPTID and PBs. Genomic and transcriptomic profiling allowed the characterization of oncogenic drivers for individual tumor groups, specifically, alterations in the microRNA processing pathway in PB-miRNA1/2, MYC amplification and FOXR2 overexpression in PB-MYC/FOXR2, RB1 alteration in PB-RB1, and KBTBD4 insertion in PPTID. Age at diagnosis, sex predilection, and metastatic status varied significantly among tumor groups. While patients with PB-miRNA2 and PPTID had superior outcome, survival was intermediate for patients with PB-miRNA1, and dismal for those with PB-MYC/FOXR2 or PB-RB1. Reduced-dose CSI was adequate for patients with average-risk, PB-miRNA1/2 disease. We systematically interrogated the clinical and molecular heterogeneity within pineal parenchymal tumors and proposed a consensus nomenclature for disease groups, laying the groundwork for future studies as well as routine use in tumor diagnostic classification and clinical trial stratification.
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