ArticleNature communications2018
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
What it found
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Who cites it
42 citing papers in PubMed, 75 citations in OpenAlex.
- DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.The Journal of clinical investigation · 2020Trial
- Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.Acta neuropathologica · 2020Trial
- Spatial single-cell landscape of tumor-associated macrophages and their crosstalk with the tumor microenvironment.Cell discovery · 2026Article
- Histopathology and Molecular Pathology of Pineal Region Tumors.Advances and technical standards in neurosurgery · 2026Review
- Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes.Acta neuropathologica communications · 2025Article
- Review
- Development and Validation of Survival Prediction Models for Patients With Pineoblastomas Using Deep Learning: A SEER-Based Study.Cancer reports (Hoboken, N.J.) · 2025Article
- Drosha: a new tumor suppressor in pineoblastoma.Genes & development · 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
- The PDE4DIP-AKAP9 axis promotes lung cancer growth through modulation of PKA signalling.Communications biology · 2025Article
- Understanding and Managing Pineal Parenchymal Tumors of Intermediate Differentiation: An In-Depth Exploration from Pathology to Adjuvant Therapies.Journal of clinical medicine · 2024Review
- Brain Tumors: Development, Drug Resistance, and Sensitization - An Epigenetic Approach.Epigenetics · 2023Review
- Pineal/germ cell tumors and pineal parenchymal tumors.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- Histopathology and molecular pathology of pediatric pineal parenchymal tumors.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- Review
- PDE4DIP contributes to colorectal cancer growth and chemoresistance through modulation of the NF1/RAS signaling axis.Cell death & disease · 2023Article
- Cancer Stem Cells in Tumours of the Central Nervous System in Children: A Comprehensive Review.Cancers · 2023Review
- A temporal in vivo catalog of chromatin accessibility and expression profiles in pineoblastoma reveals a prevalent role for repressor elements.Genome research · 2023Article
Corrections and comments
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Authors and funding
29 authors at 6 institutions in 2 countries.
Funding
Abstract
Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with germline mutations in DICER1, a ribonuclease involved in microRNA processing, have increased risk of pineoblastoma, but genetic drivers of sporadic pineoblastoma remain unknown. Here, we analyzed pediatric and adult pineoblastoma samples (n = 23) using a combination of genome-wide DNA methylation profiling and whole-exome sequencing or whole-genome sequencing. Pediatric and adult pineoblastomas showed distinct methylation profiles, the latter clustering with lower-grade pineal tumors and normal pineal gland. Recurrent variants were found in genes involved in PKA- and NF-κB signaling, as well as in chromatin remodeling genes. We identified recurrent homozygous deletions of DROSHA, acting upstream of DICER1 in microRNA processing, and a novel microduplication involving chromosomal region 1q21 containing PDE4DIP (myomegalin), comprising the ancient DUF1220 protein domain. Expresion of PDE4DIP and DUF1220 proteins was present exclusively in pineoblastoma with PDE4DIP gain.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.