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Pineoblastoma
ORPHA:251909CID-10 · C75.3CID-11 · 2A00.20DOENÇA RARA

Pineoblastoma é um tipo raro e maligno de tumor neuroectodérmico primitivo supratentorial (sPNET), encontrado principalmente em crianças (menos de 10% dos casos são relatados em adultos) e localizado na região pineal do cérebro, mas que pode metastatizar ao longo do neuroeixo. Por ser o mais agressivo dos tumores do parênquima pineal, geralmente está associado a um mau prognóstico.

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Introdução

O que você precisa saber de cara

📋

Pineoblastoma é um tipo raro e maligno de tumor neuroectodérmico primitivo supratentorial (sPNET), encontrado principalmente em crianças (menos de 10% dos casos são relatados em adultos) e localizado na região pineal do cérebro, mas que pode metastatizar ao longo do neuroeixo. Por ser o mais agressivo dos tumores do parênquima pineal, geralmente está associado a um mau prognóstico.

Pesquisas ativas
8 ensaios
77 total registrados no ClinicalTrials.gov
Publicações científicas
486 artigos
Último publicado: 1993

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.02
Europe
Início
Adolescent
+ adult, childhood, infancy
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C75.3
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
6 sintomas
👁️
Olhos
3 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

100%prev.
Pinealoma
90%prev.
Cefaleia
Muito frequente (99-80%)
55%prev.
Comprometimento cognitivo
Frequente (79-30%)
55%prev.
Aumento da pressão intracraniana
Frequente (79-30%)
55%prev.
Deterioração neurológica progressiva
Frequente (79-30%)
55%prev.
Comprometimento da memória
Frequente (79-30%)
19sintomas
Muito frequente (2)
Frequente (5)
Ocasional (10)
Muito raro (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 características clínicas mais associadas, ordenadas por frequência.

Pinealoma
Muito frequente100%
CefaleiaHeadache
Muito frequente (99-80%)90%
Comprometimento cognitivoCognitive impairment
Frequente (79-30%)55%
Aumento da pressão intracranianaIncreased intracranial pressure
Frequente (79-30%)55%
Deterioração neurológica progressivaProgressive neurologic deterioration
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico486PubMed
Últimos 10 anos200publicações
Pico202328 papers
Linha do tempo
2026Hoje · 2026🧪 1994Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 23
1Fase 113
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Pineoblastoma

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

5 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

77 ensaios clínicos encontrados, 8 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
227 papers (10 anos)
#1

Diagnostic yield from minimally invasive pediatric brain tumor biopsies in the molecular era.

Journal of neurosurgery. Pediatrics2026 Mar 20

This study aimed to evaluate the diagnostic yield from minimally invasive biopsies of pediatric brain tumors using endoscopic, robot-guided, and optical image-guided techniques. A single-center retrospective review was conducted on the data of children (< 18 years of age) who underwent minimally invasive brain tumor biopsies using optical image-guided, endoscopic, or robot-assisted needle biopsies. Data collected consisted of demographic details, tumor location, simultaneous CSF diversion, and macroscopic details of collected specimens. Primary outcomes were histological and molecular diagnostic yield, histological accuracy, need for repeat biopsy, and reasons for biopsy failure. Adverse events were prospectively recorded. Statistical analysis was conducted in SPSS and Prism using Pearson's chi-square and Fisher's exact tests. Between January 2004 and February 2023, 188 biopsies were performed using endoscopic (41.5%), optical image-guided (37.2%), and robot-guided (21.3%) techniques. Tumor location was classified as suprasellar (28.2%), pineal region (20.2%), brainstem (19.1%), basal ganglia/thalamic (16.5%), supratentorial lobar (10.1%), intraventricular (5.3%), and cerebellar (0.5%). Histological diagnosis was achieved in 88.3% (166/188) and consisted of low-grade glioma (33.5%), high-grade glioma (31.9%), germ cell tumor (10.6%), embryonal tumor (5.3%), craniopharyngioma (2.1%), lymphoma (1.6%), pineoblastoma (1.6%), choroid plexus papilloma (0.5%), meningioma (0.5%), and pineal cyst (0.5%). Overall, 11.7% (22/188) of biopsies were nondiagnostic: 19.2% for endoscopic, 8.6% for optical image-guided, and 2.5% for robot-guided techniques. Thirteen (6.9%) patients required further biopsy. A molecular diagnosis was achieved in 82.0% (109/133) of eligible cases. All tumors with a molecular diagnosis had a histological diagnosis; of 24 patients for whom molecular diagnosis was not possible, 79.2% (19/24) had a histological diagnosis. Larger-sized biopsies were more likely to result in a positive diagnosis for histology and molecular analysis. Hemorrhage in the specimen did not affect results. Endoscopic biopsies were most likely to be small and yield a lower volume of core specimens. Histological diagnostic accuracy for glioma was more likely for high-grade tumors, larger-sized biopsies, and tumors in which a molecular diagnosis was achieved. Through the use of contemporary minimally invasive techniques, pediatric brain tumor biopsy has a histological diagnostic yield of 88.3% and molecular diagnostic yield of 82.0%. Robot-guided and optical image-guided techniques provided the highest diagnostic yield (97.5% and 91.4%, respectively, for histological analysis), while endoscopic biopsies had the highest rate of nondiagnostic results (19.2%), likely due to smaller specimen volumes.

#2

A photoreceptor state links aggressive brain tumors in children.

Cancer cell2026 Mar 19

In this issue of Cancer Cell, Gudenas et al. reveal that Group 3 medulloblastoma, pineoblastoma, and retinoblastoma converge on a shared tumor-associated photoreceptor signature rooted in transient developmental progenitors. This work reframes these malignancies as diseases of common developmental vulnerability and identifies shared transcriptional dependencies with potential therapeutic relevance.

#3

A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.

Cancer cell2026 Mar 05

Pineoblastoma is a clinically aggressive childhood brain tumor composed of distinct molecular subgroups with divergent driver genes, demographics, and clinical outcomes. To identify developmental origins and mechanisms governing disease pathogenesis, we derive single-cell transcriptomes from pineal parenchymal tumors, aligning malignant cells with developmental counterparts to retrace cellular origins. Integrative computational analyses map pineoblastoma origins to transient, cycling pinealocyte progenitors during development. Lineage-specific perturbation of suspected drivers in the early pineal gland yields preclinical models representative of consensus molecular subgroups. Multi-omic characterization of patient tumors and these models uncover a tumor-associated photoreceptor signature (TAPS) common to pineoblastoma, retinoblastoma, and Group 3 medulloblastoma. Transcriptional activity of this signature within respective cellular origins establishes a developmental basis for molecular similarities between entities. Photoreceptor signature constituents are selective dependencies across these anatomically distinct central nervous system malignancies, motivating future studies evaluating developmentally encoded programs of malignancy as potential therapeutic liabilities.

#4

Surgical management of pediatric pineal region tumors: an overview of current strategies.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2026 Mar 15

Tumors of the pineal region represent a rare and heterogeneous group of pediatric intracranial neoplasms, accounting for 3-8% of childhood brain tumors. Their deep midline location and proximity to critical neurovascular structures make surgical management particularly challenging. Over the past two decades, refinements in microsurgical and endoscopic techniques have markedly changed the surgical landscape. This systematic review aims to provide an updated overview of surgical strategies, outcomes, and complications in pediatric pineal region tumors. A systematic review was conducted following PRISMA guidelines. PubMed and Embase were searched for studies published between January 2000 and December 2025 reporting surgical outcomes in patients aged ≤ 18 years with pineal region tumors. Methodological quality was assessed using the Newcastle-Ottawa Scale. Twenty-two studies including 624 pediatric patients were analyzed qualitatively. Patient age ranged from 4 months to 18 years (mean 10 years), with a male-to-female ratio of 2.5:1. Germ cell tumors were the most common histology, followed by pineoblastomas, teratomas, and astrocytomas. The main surgical approaches included supracerebellar infratentorial (SCITA), occipital transtentorial (OTA), occipital interhemispheric transtentorial (OITA), and transcallosal routes, as well as endoscopic or endoscope-assisted techniques. Gross total resection (GTR) was achieved in 40-100% of cases. Transient postoperative morbidity ranged between 15-25%, with Parinaud's syndrome and ataxia being most frequent. Permanent deficits occurred in < 10% of patients, and overall mortality varied by histology and ranged from 0 to 20%. Both microsurgical and endoscopic approaches achieve high rates of GTR with excellent functional outcomes. Minimally invasive techniques increasingly complement traditional microsurgical routes, aiming to reduce morbidity and improve CSF management. Future multicentric prospective studies are essential to establish evidence-based guidelines for pediatric pineal tumor surgery.

#5

Phase I/II study of the PARP inhibitor olaparib and irinotecan in children and young adults with recurrent/refractory malignancies: Arm D of the AcSé-ESMART trial.

Clinical cancer research : an official journal of the American Association for Cancer Research2026 Jan 27

Arm D of the AcSé-ESMART proof-of-concept phase I/II platform trial aimed to define the recommended phase II dose (RP2D), pharmacokinetics, activity, and biomarkers of the PARP inhibitor olaparib with irinotecan in pediatric patients with recurrent/refractory malignancies. Olaparib was administered orally twice daily on Days 1-10 and irinotecan intravenously on Days 4-8 of a 21-day cycle. Dose-escalation followed the continuous reassessment method; activity was assessed in diverse tumor types (cohort 1) and Ewing sarcoma (cohort 2) according to a minimax Simon 2-stage design. Cohorts were enriched for alterations in homologous recombination repair (HRR) pathways. Seventy patients (median age: 14.9 years, range 5.0-23.8) were included, 34 with diverse tumor types (25 with HRR gene alterations) and 36 with Ewing sarcoma. Sixty-six patients received 348 treatment cycles (median, 2; range, 1-51) over four dose levels. Main toxicities were gastrointestinal and myelosuppression; the RP2D was olaparib 90 mg/m2 twice daily and irinotecan 20 mg/m2/day. Olaparib exposure in children was equivalent to those in adults. Overall response rate was 9.1%; cohort 1: 11.8%; cohort 2: 6.3%. Four patients with osteosarcoma, pineoblastoma, choroid plexus carcinoma, and neuroblastoma experienced a partial response and were treated for 9 to 51 cycles. Two patients with Ewing sarcoma experienced a complete and a partial response for 10 and 42 cycles, respectively. Genetic analyses suggest high aneuploidy score possibly being associated with objective response and prolonged stable disease. Olaparib combined with irinotecan demonstrated activity in pediatric tumors which was enriched among tumors that exhibited aneuploidy.

Publicações recentes

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📚 EuropePMC183 artigos no totalmostrando 197

2026

Diagnostic yield from minimally invasive pediatric brain tumor biopsies in the molecular era.

Journal of neurosurgery. Pediatrics
2026

A photoreceptor state links aggressive brain tumors in children.

Cancer cell
2026

Surgical management of pediatric pineal region tumors: an overview of current strategies.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.

Cancer cell
2026

Phase I/II study of the PARP inhibitor olaparib and irinotecan in children and young adults with recurrent/refractory malignancies: Arm D of the AcSé-ESMART trial.

Clinical cancer research : an official journal of the American Association for Cancer Research
2025

Plaque Brachytherapy for DICER1-Associated Ciliary Body Medulloepithelioma.

Journal of current ophthalmology
2025

Descriptive and molecular analysis of pineal parenchymal tumors with clinical correlation.

BMC cancer
2025

Concurrent surgical management of pineoblastoma and Chiari type 1.5 malformation: a case report.

BMC surgery
2025

Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes.

Acta neuropathologica communications
2025

Functional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic.

Clinical genetics
2025

Clinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Elevation of hCG in CSF in pinealoblastoma: a pitfall rescued by pathological examination.

Acta neuropathologica communications
2025

A bibliometric analysis of the top 100 most cited articles on pineal parenchymal tumors worldwide.

Brain &amp; spine
2025

Outcomes of Infants and Young Children With CNS Embryonal Tumors Using Pre-Irradiation Chemotherapy: A Decade Long Experience.

Cancer medicine
2025

Development and Validation of Survival Prediction Models for Patients With Pineoblastomas Using Deep Learning: A SEER-Based Study.

Cancer reports (Hoboken, N.J.)
2025

Identification of germline mutations in DICER1 through routine somatic NGS analysis in various neoplasms.

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
2025

Navigating the complexity of pineal parenchymal tumors of intermediate differentiation: A case report and literature review.

Journal of cancer research and therapeutics
2025

Feasibility and Outcomes of Craniospinal Irradiation and Concurrent Daily Carboplatin in Children and Adults With High-risk Central Nervous System Tumours.

Clinical oncology (Royal College of Radiologists (Great Britain))
2025

Feasibility and efficacy of MEMMAT-like regimen in heavily pretreated adult patients with recurrent malignant embryonal brain tumors: A series of 6 cases.

Neuro-oncology advances
2025

An aggressive, unresected pineoblastoma in an adult woman: the role of exclusive radiotherapy - a case report and literature review.

Ecancermedicalscience
2025

Phase 3 randomized trial of high-dose methotrexate for young children with high-risk embryonal brain tumors: A report from the Children's Oncology Group.

Neuro-oncology
2025

Adult pineoblastoma: A prospective study and twelve-year experience from three tertiary care cancer institutes of India depicting the effect of various independent parameters and therapeutic strategy on progression and survival in this extremely rare malignancy.

Indian journal of cancer
2025

Drosha: a new tumor suppressor in pineoblastoma.

Genes &amp; development
2025

Use of a tropomyosin receptor kinase inhibitor to successfully treat an infant with metastatic pineoblastoma.

Pediatrics and neonatology
2025

An imbalance between proliferation and differentiation underlies the development of microRNA-defective pineoblastoma.

Genes &amp; development
2025

Subtotal Resection with Proton-Beam Radiotherapy for Treatment of Pineal Parenchymal Tumor of Intermediate Differentiation in a Pediatric Patient.

Pediatric neurosurgery
2025

Recurrent pineal tumor in a young adult male: Challenges in diagnosis and multimodal treatment management.

Radiology case reports
2025

Recent Advances in Pineoblastoma Research: Molecular Classification, Modelling and Targetable Vulnerabilities.

Cancers
2025

Effect of tandem autologous stem cell transplantation on survival in pediatric patients with high-risk solid tumors in South China.

World journal of stem cells
2025

DNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastoma.

Acta neuropathologica communications
2025

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
2024

A systematic review of adult pineoblastoma.

Frontiers in oncology
2024

Impact of molecular classification on prognosis in children and adolescents with spinal ependymoma: Results from the HIT-MED database.

Neuro-oncology advances
2024

Intensive pediatric chemotherapy regimen (PNET HR+5) in adult high-risk medulloblastoma and pineoblastoma patients.

Neuro-oncology advances
2024

Second Primary Malignant Neoplasms in Survivors of Retinoblastoma in a Single Ocular Oncology Practice.

Clinical ophthalmology (Auckland, N.Z.)
2025

A pineal region mass in a 55-year-old female.

Brain pathology (Zurich, Switzerland)
2024

Peritoneal Dissemination via Ventriculoperitoneal Shunt of a Pineoblastoma.

Neurology
2024

Consensus guidelines for the management of pineal region tumours for low- and middle-income countries.

JPMA. The Journal of the Pakistan Medical Association
2024

Identification of clinical prognosis features and significant DNA methylation regulation in pineoblastoma.

International journal of clinical oncology
2025

Rosettes and pseudorosettes in veterinary neuropathology.

Veterinary pathology
2024

Evolution of Proton Radiation Therapy Brainstem Constraints on the Pediatric Proton/Photon Consortium Registry.

Practical radiation oncology
2024

SNO-EANO-EURACAN consensus on management of pineal parenchymal tumors.

Neuro-oncology
2024

KBTBD4 Cancer Hotspot Mutations Drive Neomorphic Degradation of HDAC1/2 Corepressor Complexes.

bioRxiv : the preprint server for biology
2023

[DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics].

Problemy endokrinologii
2024

Spinal Dissemination of Pineal Parenchymal Tumors of Intermediate Differentiation Over 10 Years After Initial Treatment: A Case Report.

Cureus
2024

Evolution of Surgical Management of Pineal Region Tumors in the Pediatric Population: A 17-Year Experience at a Single Institution.

Pediatric neurosurgery
2024

Plasma miRNA expression profile in pediatric pineal pure germinomas.

Frontiers in oncology
2024

Clinical and histopathological spectrum of cranial small round cell tumors: An experience from a tertiary care center.

Journal of cancer research and therapeutics
2024

The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.

BMC pediatrics
2024

Feasibility and Safety of Implementing Volumetric Arc Therapy (VMAT) for Pediatric Craniospinal Irradiation in a Low-Middle-Income Region: The Nigerian Experience.

Advances in radiation oncology
2024

Cytological diagnosis of pineoblastoma in cerebrospinal fluid.

Cytopathology : official journal of the British Society for Clinical Cytology
2024

The effectiveness and safety of proton beam radiation therapy in children and young adults with Central Nervous System (CNS) tumours: a systematic review.

Journal of neuro-oncology
2024

Pineal anlage tumor: clinical and diagnostic features, and rationales for treatment.

Journal of neuro-oncology
2024

CSF cytology of common primary CNS neoplasms categorized by CNS WHO 2021.

Cytopathology : official journal of the British Society for Clinical Cytology
2023

Survival and Malignant Transformation of Pineal Parenchymal Tumors: A 30-Year Retrospective Analysis in a Single-Institution.

Brain tumor research and treatment
2024

An atypical location of pineoblastoma RB1 subgroup without pineal or retinal tumor.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Pineal/germ cell tumors and pineal parenchymal tumors.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Pediatric Pineal Region Tumors: Special Reference to Posterior Interhemispheric Trans-Tentorial Approach.

Advances and technical standards in neurosurgery
2023

Primary Gamma Knife Radiosurgery for pineal region tumors: A systematic review and pooled analysis of available literature with histological stratification.

Journal of pineal research
2023

BCOR expression in paediatric pineoblastoma.

Folia neuropathologica
2023

Pediatric diencephalic tumors: a constellation of entities and management modalities.

Frontiers in oncology
2023

DICER1-associated central nervous system sarcoma: A comprehensive clinical and genomic characterization of case series of young adult patients.

Neuro-oncology practice
2023

Post-Surgical Prognosis of Patients with Pineoblastoma: A Systematic Review and Individual Patient Data Analysis with Trends over Time.

Cancers
2023

The surgical intervention for pineal region tumors.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.

American journal of medical genetics. Part A
2023

Radiation-induced Desmoid Tumor Development in the Radiotherapy Field in a Child With Pineoblastoma: A Case Report.

Journal of pediatric hematology/oncology
2023

Pineal Parenchymal Tumors With Intermediate Differentiation to Pineoblastoma: A Transitional Neuroectodermal Tumor of the Pineal Gland.

Cureus
2023

Current Open Trials and Molecular Update for Pediatric Embryonal Tumors.

Pediatric neurosurgery
2023

Prognostic factors of pediatric pineal region tumors at a single institution.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Outcomes and surgical approaches for pineal region tumors in children: 30 years' experience.

Journal of neurosurgery. Pediatrics
2023

Long-Term Endocrinologic Follow-Up of Children with Brain Tumors and Comparison of Growth Hormone Therapy Outcomes: A SingleCenter Experience.

Turkish archives of pediatrics
2023

Pediatric phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775), and irinotecan for relapsed neuroblastoma, medulloblastoma, and rhabdomyosarcoma.

Cancer
2023

Accuracy of apparent diffusion coefficient values for distinguishing between pineal germ cell tumour and pineoblastoma.

Clinical radiology
2023

Pineoblastoma: prognostic factors and survival outcomes in young children.

Chinese medical journal
2023

A temporal in vivo catalog of chromatin accessibility and expression profiles in pineoblastoma reveals a prevalent role for repressor elements.

Genome research
2023

Radiotherapy Is Associated With Improved Overall Survival in Adult Pineoblastoma: A SEER Database Analysis.

World neurosurgery
2022

Immunohistochemical assessment and clinical, histopathologic, and molecular correlates of membranous somatostatin type-2A receptor expression in high-risk pediatric central nervous system tumors.

Frontiers in oncology
2022

Biallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative case.

Journal of neurosurgery. Case lessons
2022

A Prospective Evaluation of Fatigue in Pediatric Brain Tumor Patients Treated With Radiation Therapy.

Journal of pediatric hematology/oncology nursing
2023

Temporal profile of serum melatonin levels in paediatric pineal tumours subjected to surgery: newer insights.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Pineal Parenchymal Tumor of Intermediate Differentiation and DICER1 Syndrome: A Case Report.

Journal of pediatric hematology/oncology
2023

Histopathology and molecular pathology of pediatric pineal parenchymal tumors.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Embryonal Rhabdomyosarcoma of the Uterine Cervix: A Clinicopathologic Study of 94 Cases Emphasizing Issues in Differential Diagnosis Staging, and Prognostic Factors.

The American journal of surgical pathology
2022

5-Aminolevulinic acid fluorescence-guided endoscopic surgery for intraventricular tumors.

Surgical neurology international
2023

Non-resective treatment of pineoblastoma in adult: a case report.

Acta neurologica Belgica
2022

A systematic review of the clinicopathological features and prognostic outcomes of DICER1-mutant malignant brain neoplasms.

Journal of neurosurgery. Pediatrics
2022

Infantile suprasellar tumor diagnosed as a pineoblastoma RB1 subgroup and treatment challenges: A pediatric SNO Molecular Tumor Board.

Neuro-oncology advances
2023

Pediatric pineal region tumors: institutional experience of surgical managements with posterior interhemispheric transtentorial approach.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Primary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature.

Journal of neuropathology and experimental neurology
2022

Encouraging early outcomes with image guided pencil beam proton therapy for cranio-spinal irradiation: first report from India.

Radiation oncology (London, England)
2022

Pediatric pineoblastoma: A pooled outcome study of North American and Australian therapeutic data.

Neuro-oncology advances
2022

Survival and associated predictors for patients with pineoblastoma or pineal parenchymal tumors of intermediate differentiation older than 3 years: Insights from the National Cancer Database.

Neuro-oncology advances
2022

Quantifying intraventricular drug delivery utilizing programmable ventriculoperitoneal shunts as the intraventricular access device.

Journal of neuro-oncology
2022

Epidemiology of pineoblastoma in the United States, 2000-2017.

Neuro-oncology practice
2022

Assessment of the normal pediatric pineal gland - MR findings of a single centre; A retrospective study.

JPMA. The Journal of the Pakistan Medical Association
2022

Malignant Pineal Parenchymal Tumors in Adults: A National Cancer Database Analysis.

Neurosurgery
2022

Pineoblastoma Without Retinal Tumors in a Patient With a Mosaic Retinoblastoma Pathogenic Variant.

JAMA ophthalmology
2022

Next-generation sequencing of cerebrospinal fluid for clinical molecular diagnostics in pediatric, adolescent and young adult brain tumor patients.

Neuro-oncology
2022

Two cases of pineal anlage tumor with molecular analysis.

Pediatric blood &amp; cancer
2021

Clinical characteristics, late effects and outcomes in pineoblastomas in children: a single center experience.

The Turkish journal of pediatrics
2022

Pineal anlage tumor: a case report and review of the literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

The first case of Ochrobactrum intermedium bacteremia in a pediatric patient with malignant tumor.

BMC infectious diseases
2021

Incidence, Prognostic Factors, and Survival Trend in Pineal Gland Tumors: A Population-Based Analysis.

Frontiers in oncology
2022

Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia.

Platelets
2021

Management dilemmas in pineoblastoma recurrence diagnosed during pregnancy.

Obstetric medicine
2022

DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2021

Prognostic factors and outcome of pineoblastoma: 10 years single-center experience.

Journal of the Egyptian National Cancer Institute
2021

An Ominous Cause of Headache in a Teenager.

Cureus
2021

Endoscope-Assisted Microsurgery in Pediatric Cases With Pineal Region Tumors: A Study of 18 Cases Series.

Frontiers in surgery
2021

Palliative endoscopic third ventriculostomy for pediatric primary brain tumors: a single-institution case series.

Journal of neurosurgery. Pediatrics
2021

A rare case of extremely delayed osseous metastasis of pineoblastoma.

Rare tumors
2021

Occipital interhemispheric transtentorial approach to a pineoblastoma in a 4-year-old child.

Neurosurgical focus: Video
2021

Interhemispheric transcallosal intervenous approach to a pineal region tumor.

Neurosurgical focus: Video
2021

Pineal anlage tumor: A case report and clinico-pathological review.

Clinical neurology and neurosurgery
2022

Asynchronous pineoblastoma is more likely after early diagnosis of retinoblastoma: a meta-analysis.

Acta ophthalmologica
2022

Pineal region tumours in the sitting position: how I do it.

Acta neurochirurgica
2021

Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.

Acta neuropathologica communications
2021

Feasibility of Proton Beam Therapy for Infants with Brain Tumours: Experiences from the Prospective KiProReg Registry Study.

Clinical oncology (Royal College of Radiologists (Great Britain))
2021

SWI/SNF deficient central nervous system neoplasms.

Seminars in diagnostic pathology
2021

Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study.

Acta neuropathologica
2021

Histopathological and Immunohistochemical Studies of Pineoblastoma in a Cow.

Journal of comparative pathology
2021

Phase 1 trial of olaratumab monotherapy and in combination with chemotherapy in pediatric patients with relapsed/refractory solid and central nervous system tumors.

Cancer medicine
2021

Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors.

British journal of cancer
2021

An In Utero Presentation of Trilateral Retinoblastoma.

Ophthalmology. Retina
2020

Freiburg Neuropathology Case Conference: : Blurred Vision and Headaches in a 15-year-old Boy.

Clinical neuroradiology
2020

H3K27M-mutant diffuse midline glioma presenting as synchronous lesions involving pineal and suprasellar region: A case report and literature review.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2020

Corrigendum: Development and Validation of a Prognostic Nomogram to Predict Cancer-Specific Survival in Adult Patients With Pineoblastoma.

Frontiers in oncology
2020

Methylation data of mouse Rb-deficient pineoblastoma.

Data in brief
2020

Adverse Factors of Treatment Response and Overall Survival in Pediatric and Adult Patients with Pineoblastoma.

Cancer management and research
2020

Development and Validation of a Prognostic Nomogram to Predict Cancer-Specific Survival in Adult Patients With Pineoblastoma.

Frontiers in oncology
2020

WNT-activated embryonal tumors of the pineal region: ectopic medulloblastomas or a novel pineoblastoma subgroup?

Acta neuropathologica
2020

Four Cases of Desquamative Esophagitis Occurring after Hematopoietic Stem Cell Transplantation.

Internal medicine (Tokyo, Japan)
2020

Management of methotrexate-induced neurotoxicity with aminophylline plus dextromethorphan in a pediatric patient with pineoblastoma.

Pediatric blood &amp; cancer
2021

Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant.

Histopathology
2020

Embryonal Tumors of the Central Nervous System: An Update.

Surgical pathology clinics
2023

Intracranial hemangiopericytoma after radiation treatment: first case in the literature.

British journal of neurosurgery
2020

Modeling germline mutations in pineoblastoma uncovers lysosome disruption-based therapy.

Nature communications
2020

Pineoblastoma in children less than six years of age: The Head Start I, II, and III experience.

Pediatric blood &amp; cancer
2020

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.

Acta neuropathologica
2020

Patterns of Care and Age-Specific Impact of Extent of Resection and Adjuvant Radiotherapy in Pediatric Pineoblastoma.

Neurosurgery
2020

Pure Endoscopic Supracerebellar Infratentorial Approach to the Pineal Region: A Case Series.

World neurosurgery
2020

Pediatric embryonal brain tumors in the molecular era.

Expert review of molecular diagnostics
2020

Treatment of pediatric high-grade central nervous system tumors with high-dose methotrexate in combination with multiagent chemotherapy: A single-institution experience.

Pediatric blood &amp; cancer
2020

Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.

Acta neuropathologica
2020

Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.

Acta neuropathologica
2020

Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.

Acta neuropathologica
2019

Pineoblastoma in Adults: A Rare Case Successfully Treated with Multimodal Approach Including Craniospinal Irradiation Using Helical Tomotherapy.

Cureus
2019

[Role of CT in diagnosis and monitoring of retinoblastoma in Senegal].

Journal francais d'ophtalmologie
2019

Tandem high-dose chemotherapy with topotecan-thiotepa-carboplatin and melphalan-etoposide-carboplatin regimens for pediatric high-risk brain tumors.

International journal of clinical oncology
2019

ATRX Mutations in Pineal Parenchymal Tumors of Intermediate Differentiation.

Journal of neuropathology and experimental neurology
2019

A Case Report of Adult Pineoblastoma Occurring in a Pregnant Woman.

Anticancer research
2019

Primary pineal tumors - Unraveling histological challenges and certain clinical myths.

Neurology India
2020

An update on the central nervous system manifestations of DICER1 syndrome.

Acta neuropathologica
2019

Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.

Acta neuropathologica
2019

Sexsomnia in an Adolescent.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2019

The impact on outcomes by using thiotepa in tandem transplant for pediatric high-risk embryonal brain tumors.

Journal of the Chinese Medical Association : JCMA
2019

An Active Duty Sailor With Worsening Headaches and Blurry Vision.

Military medicine
2020

Advances in Diagnostic Immunohistochemistry for Primary Tumors of the Central Nervous System.

Advances in anatomic pathology
2019

Nivolumab in the Treatment of Recurrent or Refractory Pediatric Brain Tumors: A Single Institutional Experience.

Journal of pediatric hematology/oncology
2018

Unedited microneurosurgery of a high-grade pineal parenchymal tumor of intermediate differentiation.

Surgical neurology international
2019

Pineal Parenchymal Tumors of Intermediate Differentiation: A long-Term Follow-Up Study in Helsinki Neurosurgery.

World neurosurgery
2019

Severe anti-GAD antibody-associated encephalitis after stem cell transplantation.

Brain &amp; development
2018

Extensive Molecular and Clinical Heterogeneity in Patients With Histologically Diagnosed CNS-PNET Treated as a Single Entity: A Report From the Children's Oncology Group Randomized ACNS0332 Trial.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
2019

Feasibility of high-dose chemotherapy protocols to treat infants with malignant central nervous system tumors: Experience from a middle-income country.

Pediatric blood &amp; cancer
2018

Pineoblastoma in a child with 22q11.2 deletion syndrome.

BMJ case reports
2018

Rapid discrimination of pediatric brain tumors by mass spectrometry imaging.

Journal of neuro-oncology
2018

Clinical Applications of Quantitative 3-Dimensional MRI Analysis for Pediatric Embryonal Brain Tumors.

International journal of radiation oncology, biology, physics
2018

Prognosis of Pediatric Patients with Pineoblastoma: A SEER Analysis 1990-2013.

World neurosurgery
2018

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.

Nature communications
2019

Therapeutic strategy for pineal parenchymal tumor of intermediate differentiation (PPTID): case report of PPTID with malignant transformation to pineocytoma with leptomeningeal dissemination 6 years after surgery.

Journal of neurosurgery
2018

Molecular Classification and Management of Rare Pediatric Embryonal Brain Tumors.

Current oncology reports
2018

Gamma Knife treatment of malignant infantile brain tumors - Case report.

Journal of radiosurgery and SBRT
2018

PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours.

Histopathology
2018

Retrospective Analysis of the Clinical Characteristics, Therapeutic Aspects, and Prognostic Factors of 18 Cases of Childhood Pineoblastoma.

World neurosurgery
2018

A Pre-Clinical Assessment of the Pan-ERBB Inhibitor Dacomitinib in Pediatric and Adult Brain Tumors.

Neoplasia (New York, N.Y.)
2018

Role of radiotherapy in residual pineal parenchymal tumors.

Clinical neurology and neurosurgery
2018

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.

Clinical cancer research : an official journal of the American Association for Cancer Research
2019

Retinoblastoma, the visible CNS tumor: A review.

Journal of neuroscience research
2018

Management and outcome of children and adolescents with non-medulloblastoma CNS embryonal tumors in Spain: room for improvement in standards of care.

Journal of neuro-oncology
2019

Risk of cancer in children exposed to antiretroviral nucleoside analogues in utero: The french experience.

Environmental and molecular mutagenesis
2018

DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.

Pediatric blood &amp; cancer
2017

The Posterior Transcallosal Approach to the Pineal Region and Posterior Third Ventricle: Intervenous and Paravenous Variants.

Operative neurosurgery (Hagerstown, Md.)
2017

Histology-Stratified Tumor Control and Patient Survival After Stereotactic Radiosurgery for Pineal Region Tumors: A Report From the International Gamma Knife Research Foundation.

World neurosurgery
2017

Retinoblastoma and Neuroblastoma Predisposition and Surveillance.

Clinical cancer research : an official journal of the American Association for Cancer Research
2017

PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

Clinical cancer research : an official journal of the American Association for Cancer Research
2017

Pediatric imaging in DICER1 syndrome.

Pediatric radiology
2017

Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.

Neuro-oncology
2017

Risk of malignancy in 22q11.2 deletion syndrome.

Clinical case reports
2017

Pineoblastoma-The Experience at St. Jude Children's Research Hospital.

Neurosurgery
2017

Evaluation of age-dependent treatment strategies for children and young adults with pineoblastoma: analysis of pooled European Society for Paediatric Oncology (SIOP-E) and US Head Start data.

Neuro-oncology
2017

Pineal Region Masses in Pediatric Patients.

Neuroimaging clinics of North America
2016

Patterns of care and survival outcomes in patients with pineal parenchymal tumor of intermediate differentiation: An individual patient data analysis.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
2016

Cat Scratch Disease: Expanded Spectrum.

Ocular oncology and pathology
2016

Pineal parenchymal tumour of intermediate differentiation: a rare differential diagnosis of pineal region tumours.

BJR case reports
2016

Pineal cysts-A benign association with familial retinoblastoma.

Pediatric hematology and oncology
2017

Survival after chemotherapy and stem cell transplant followed by delayed craniospinal irradiation is comparable to upfront craniospinal irradiation in pediatric embryonal brain tumor patients.

Journal of neuro-oncology
2017

A rare case of a pineoblastoma with a rhabdomyoblastic component.

Neuropathology : official journal of the Japanese Society of Neuropathology

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Diagnostic yield from minimally invasive pediatric brain tumor biopsies in the molecular era.
    Journal of neurosurgery. Pediatrics· 2026· PMID 41871435mais citado
  2. A photoreceptor state links aggressive brain tumors in children.
    Cancer cell· 2026· PMID 41861823mais citado
  3. A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.
    Cancer cell· 2026· PMID 41791379mais citado
  4. Surgical management of pediatric pineal region tumors: an overview of current strategies.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2026· PMID 41832330mais citado
  5. Phase I/II study of the PARP inhibitor olaparib and irinotecan in children and young adults with recurrent/refractory malignancies: Arm D of the AcS&#xe9;-ESMART trial.
    Clinical cancer research : an official journal of the American Association for Cancer Research· 2026· PMID 41591981mais citado
  6. DICER1-Related Tumor Predisposition.
    · 1993· PMID 24761742recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:251909(Orphanet)
  2. MONDO:0016722(MONDO)
  3. GARD:9369(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q2095567(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Pineoblastoma
Compêndio · Raras BR

Pineoblastoma

ORPHA:251909 · MONDO:0016722
Prevalência
<1 / 1 000 000
Herança
Not applicable
CID-10
C75.3 · Neoplasia maligna da glândula pineal
CID-11
Ensaios
8 ativos
Início
Adolescent, Adult, Childhood, Infancy
Prevalência
0.02 (Europe)
MedGen
UMLS
C0205898
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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