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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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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Diagnostic yield from minimally invasive pediatric brain tumor biopsies in the molecular era.
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.
A photoreceptor state links aggressive brain tumors in children.
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.
A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.
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.
Surgical management of pediatric pineal region tumors: an overview of current strategies.
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.
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.
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
DICER1-Related Tumor Predisposition.
Diagnostic yield from minimally invasive pediatric brain tumor biopsies in the molecular era.
A photoreceptor state links aggressive brain tumors in children.
Surgical management of pediatric pineal region tumors: an overview of current strategies.
A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.
📚 EuropePMC183 artigos no totalmostrando 197
Diagnostic yield from minimally invasive pediatric brain tumor biopsies in the molecular era.
Journal of neurosurgery. PediatricsA photoreceptor state links aggressive brain tumors in children.
Cancer cellSurgical management of pediatric pineal region tumors: an overview of current strategies.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.
Cancer cellPhase 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 ResearchPlaque Brachytherapy for DICER1-Associated Ciliary Body Medulloepithelioma.
Journal of current ophthalmologyDescriptive and molecular analysis of pineal parenchymal tumors with clinical correlation.
BMC cancerConcurrent surgical management of pineoblastoma and Chiari type 1.5 malformation: a case report.
BMC surgeryRecurrent genetic alterations in epigenetically defined pineoblastoma subtypes.
Acta neuropathologica communicationsFunctional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic.
Clinical geneticsClinical 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 NeurosurgeryElevation of hCG in CSF in pinealoblastoma: a pitfall rescued by pathological examination.
Acta neuropathologica communicationsA bibliometric analysis of the top 100 most cited articles on pineal parenchymal tumors worldwide.
Brain & spineOutcomes of Infants and Young Children With CNS Embryonal Tumors Using Pre-Irradiation Chemotherapy: A Decade Long Experience.
Cancer medicineDevelopment and Validation of Survival Prediction Models for Patients With Pineoblastomas Using Deep Learning: A SEER-Based Study.
Cancer reports (Hoboken, N.J.)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 CitologiaNavigating the complexity of pineal parenchymal tumors of intermediate differentiation: A case report and literature review.
Journal of cancer research and therapeuticsFeasibility 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))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 advancesAn aggressive, unresected pineoblastoma in an adult woman: the role of exclusive radiotherapy - a case report and literature review.
EcancermedicalsciencePhase 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-oncologyAdult 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 cancerDrosha: a new tumor suppressor in pineoblastoma.
Genes & developmentUse of a tropomyosin receptor kinase inhibitor to successfully treat an infant with metastatic pineoblastoma.
Pediatrics and neonatologyAn imbalance between proliferation and differentiation underlies the development of microRNA-defective pineoblastoma.
Genes & developmentSubtotal Resection with Proton-Beam Radiotherapy for Treatment of Pineal Parenchymal Tumor of Intermediate Differentiation in a Pediatric Patient.
Pediatric neurosurgeryRecurrent pineal tumor in a young adult male: Challenges in diagnosis and multimodal treatment management.
Radiology case reportsRecent Advances in Pineoblastoma Research: Molecular Classification, Modelling and Targetable Vulnerabilities.
CancersEffect of tandem autologous stem cell transplantation on survival in pediatric patients with high-risk solid tumors in South China.
World journal of stem cellsDNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastoma.
Acta neuropathologica communicationsGermline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.
Clinical cancer research : an official journal of the American Association for Cancer ResearchA systematic review of adult pineoblastoma.
Frontiers in oncologyImpact of molecular classification on prognosis in children and adolescents with spinal ependymoma: Results from the HIT-MED database.
Neuro-oncology advancesIntensive pediatric chemotherapy regimen (PNET HR+5) in adult high-risk medulloblastoma and pineoblastoma patients.
Neuro-oncology advancesSecond Primary Malignant Neoplasms in Survivors of Retinoblastoma in a Single Ocular Oncology Practice.
Clinical ophthalmology (Auckland, N.Z.)A pineal region mass in a 55-year-old female.
Brain pathology (Zurich, Switzerland)Peritoneal Dissemination via Ventriculoperitoneal Shunt of a Pineoblastoma.
NeurologyConsensus guidelines for the management of pineal region tumours for low- and middle-income countries.
JPMA. The Journal of the Pakistan Medical AssociationIdentification of clinical prognosis features and significant DNA methylation regulation in pineoblastoma.
International journal of clinical oncologyRosettes and pseudorosettes in veterinary neuropathology.
Veterinary pathologyEvolution of Proton Radiation Therapy Brainstem Constraints on the Pediatric Proton/Photon Consortium Registry.
Practical radiation oncologySNO-EANO-EURACAN consensus on management of pineal parenchymal tumors.
Neuro-oncologyKBTBD4 Cancer Hotspot Mutations Drive Neomorphic Degradation of HDAC1/2 Corepressor Complexes.
bioRxiv : the preprint server for biology[DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics].
Problemy endokrinologiiSpinal Dissemination of Pineal Parenchymal Tumors of Intermediate Differentiation Over 10 Years After Initial Treatment: A Case Report.
CureusEvolution of Surgical Management of Pineal Region Tumors in the Pediatric Population: A 17-Year Experience at a Single Institution.
Pediatric neurosurgeryPlasma miRNA expression profile in pediatric pineal pure germinomas.
Frontiers in oncologyClinical and histopathological spectrum of cranial small round cell tumors: An experience from a tertiary care center.
Journal of cancer research and therapeuticsThe first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.
BMC pediatricsFeasibility and Safety of Implementing Volumetric Arc Therapy (VMAT) for Pediatric Craniospinal Irradiation in a Low-Middle-Income Region: The Nigerian Experience.
Advances in radiation oncologyCytological diagnosis of pineoblastoma in cerebrospinal fluid.
Cytopathology : official journal of the British Society for Clinical CytologyThe 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-oncologyPineal anlage tumor: clinical and diagnostic features, and rationales for treatment.
Journal of neuro-oncologyCSF cytology of common primary CNS neoplasms categorized by CNS WHO 2021.
Cytopathology : official journal of the British Society for Clinical CytologySurvival and Malignant Transformation of Pineal Parenchymal Tumors: A 30-Year Retrospective Analysis in a Single-Institution.
Brain tumor research and treatmentAn atypical location of pineoblastoma RB1 subgroup without pineal or retinal tumor.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPineal/germ cell tumors and pineal parenchymal tumors.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPediatric Pineal Region Tumors: Special Reference to Posterior Interhemispheric Trans-Tentorial Approach.
Advances and technical standards in neurosurgeryPrimary Gamma Knife Radiosurgery for pineal region tumors: A systematic review and pooled analysis of available literature with histological stratification.
Journal of pineal researchBCOR expression in paediatric pineoblastoma.
Folia neuropathologicaPediatric diencephalic tumors: a constellation of entities and management modalities.
Frontiers in oncologyDICER1-associated central nervous system sarcoma: A comprehensive clinical and genomic characterization of case series of young adult patients.
Neuro-oncology practicePost-Surgical Prognosis of Patients with Pineoblastoma: A Systematic Review and Individual Patient Data Analysis with Trends over Time.
CancersThe surgical intervention for pineal region tumors.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
American journal of medical genetics. Part ARadiation-induced Desmoid Tumor Development in the Radiotherapy Field in a Child With Pineoblastoma: A Case Report.
Journal of pediatric hematology/oncologyPineal Parenchymal Tumors With Intermediate Differentiation to Pineoblastoma: A Transitional Neuroectodermal Tumor of the Pineal Gland.
CureusCurrent Open Trials and Molecular Update for Pediatric Embryonal Tumors.
Pediatric neurosurgeryPrognostic factors of pediatric pineal region tumors at a single institution.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryOutcomes and surgical approaches for pineal region tumors in children: 30 years' experience.
Journal of neurosurgery. PediatricsLong-Term Endocrinologic Follow-Up of Children with Brain Tumors and Comparison of Growth Hormone Therapy Outcomes: A SingleCenter Experience.
Turkish archives of pediatricsPediatric phase 2 trial of a WEE1 inhibitor, adavosertib (AZD1775), and irinotecan for relapsed neuroblastoma, medulloblastoma, and rhabdomyosarcoma.
CancerAccuracy of apparent diffusion coefficient values for distinguishing between pineal germ cell tumour and pineoblastoma.
Clinical radiologyPineoblastoma: prognostic factors and survival outcomes in young children.
Chinese medical journalA temporal in vivo catalog of chromatin accessibility and expression profiles in pineoblastoma reveals a prevalent role for repressor elements.
Genome researchRadiotherapy Is Associated With Improved Overall Survival in Adult Pineoblastoma: A SEER Database Analysis.
World neurosurgeryImmunohistochemical assessment and clinical, histopathologic, and molecular correlates of membranous somatostatin type-2A receptor expression in high-risk pediatric central nervous system tumors.
Frontiers in oncologyBiallelic inactivation of PBRM1 as a molecular driver in a rare pineoblastoma case: illustrative case.
Journal of neurosurgery. Case lessonsA Prospective Evaluation of Fatigue in Pediatric Brain Tumor Patients Treated With Radiation Therapy.
Journal of pediatric hematology/oncology nursingTemporal 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 NeurosurgeryPineal Parenchymal Tumor of Intermediate Differentiation and DICER1 Syndrome: A Case Report.
Journal of pediatric hematology/oncologyHistopathology and molecular pathology of pediatric pineal parenchymal tumors.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEmbryonal 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 pathology5-Aminolevulinic acid fluorescence-guided endoscopic surgery for intraventricular tumors.
Surgical neurology internationalNon-resective treatment of pineoblastoma in adult: a case report.
Acta neurologica BelgicaA systematic review of the clinicopathological features and prognostic outcomes of DICER1-mutant malignant brain neoplasms.
Journal of neurosurgery. PediatricsInfantile suprasellar tumor diagnosed as a pineoblastoma RB1 subgroup and treatment challenges: A pediatric SNO Molecular Tumor Board.
Neuro-oncology advancesPediatric 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 NeurosurgeryPrimary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature.
Journal of neuropathology and experimental neurologyEncouraging early outcomes with image guided pencil beam proton therapy for cranio-spinal irradiation: first report from India.
Radiation oncology (London, England)Pediatric pineoblastoma: A pooled outcome study of North American and Australian therapeutic data.
Neuro-oncology advancesSurvival 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 advancesQuantifying intraventricular drug delivery utilizing programmable ventriculoperitoneal shunts as the intraventricular access device.
Journal of neuro-oncologyEpidemiology of pineoblastoma in the United States, 2000-2017.
Neuro-oncology practiceAssessment of the normal pediatric pineal gland - MR findings of a single centre; A retrospective study.
JPMA. The Journal of the Pakistan Medical AssociationMalignant Pineal Parenchymal Tumors in Adults: A National Cancer Database Analysis.
NeurosurgeryPineoblastoma Without Retinal Tumors in a Patient With a Mosaic Retinoblastoma Pathogenic Variant.
JAMA ophthalmologyNext-generation sequencing of cerebrospinal fluid for clinical molecular diagnostics in pediatric, adolescent and young adult brain tumor patients.
Neuro-oncologyTwo cases of pineal anlage tumor with molecular analysis.
Pediatric blood & cancerClinical characteristics, late effects and outcomes in pineoblastomas in children: a single center experience.
The Turkish journal of pediatricsPineal anlage tumor: a case report and review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe first case of Ochrobactrum intermedium bacteremia in a pediatric patient with malignant tumor.
BMC infectious diseasesIncidence, Prognostic Factors, and Survival Trend in Pineal Gland Tumors: A Population-Based Analysis.
Frontiers in oncologyReport of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia.
PlateletsManagement dilemmas in pineoblastoma recurrence diagnosed during pregnancy.
Obstetric medicineDICER1 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, IncPrognostic factors and outcome of pineoblastoma: 10 years single-center experience.
Journal of the Egyptian National Cancer InstituteAn Ominous Cause of Headache in a Teenager.
CureusEndoscope-Assisted Microsurgery in Pediatric Cases With Pineal Region Tumors: A Study of 18 Cases Series.
Frontiers in surgeryPalliative endoscopic third ventriculostomy for pediatric primary brain tumors: a single-institution case series.
Journal of neurosurgery. PediatricsA rare case of extremely delayed osseous metastasis of pineoblastoma.
Rare tumorsOccipital interhemispheric transtentorial approach to a pineoblastoma in a 4-year-old child.
Neurosurgical focus: VideoInterhemispheric transcallosal intervenous approach to a pineal region tumor.
Neurosurgical focus: VideoPineal anlage tumor: A case report and clinico-pathological review.
Clinical neurology and neurosurgeryAsynchronous pineoblastoma is more likely after early diagnosis of retinoblastoma: a meta-analysis.
Acta ophthalmologicaPineal region tumours in the sitting position: how I do it.
Acta neurochirurgicaMolecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.
Acta neuropathologica communicationsFeasibility of Proton Beam Therapy for Infants with Brain Tumours: Experiences from the Prospective KiProReg Registry Study.
Clinical oncology (Royal College of Radiologists (Great Britain))SWI/SNF deficient central nervous system neoplasms.
Seminars in diagnostic pathologyClinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study.
Acta neuropathologicaHistopathological and Immunohistochemical Studies of Pineoblastoma in a Cow.
Journal of comparative pathologyPhase 1 trial of olaratumab monotherapy and in combination with chemotherapy in pediatric patients with relapsed/refractory solid and central nervous system tumors.
Cancer medicineLong-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors.
British journal of cancerAn In Utero Presentation of Trilateral Retinoblastoma.
Ophthalmology. RetinaFreiburg Neuropathology Case Conference: : Blurred Vision and Headaches in a 15-year-old Boy.
Clinical neuroradiologyH3K27M-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 AustralasiaCorrigendum: Development and Validation of a Prognostic Nomogram to Predict Cancer-Specific Survival in Adult Patients With Pineoblastoma.
Frontiers in oncologyMethylation data of mouse Rb-deficient pineoblastoma.
Data in briefAdverse Factors of Treatment Response and Overall Survival in Pediatric and Adult Patients with Pineoblastoma.
Cancer management and researchDevelopment and Validation of a Prognostic Nomogram to Predict Cancer-Specific Survival in Adult Patients With Pineoblastoma.
Frontiers in oncologyWNT-activated embryonal tumors of the pineal region: ectopic medulloblastomas or a novel pineoblastoma subgroup?
Acta neuropathologicaFour Cases of Desquamative Esophagitis Occurring after Hematopoietic Stem Cell Transplantation.
Internal medicine (Tokyo, Japan)Management of methotrexate-induced neurotoxicity with aminophylline plus dextromethorphan in a pediatric patient with pineoblastoma.
Pediatric blood & cancerLoss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant.
HistopathologyEmbryonal Tumors of the Central Nervous System: An Update.
Surgical pathology clinicsIntracranial hemangiopericytoma after radiation treatment: first case in the literature.
British journal of neurosurgeryModeling germline mutations in pineoblastoma uncovers lysosome disruption-based therapy.
Nature communicationsPineoblastoma in children less than six years of age: The Head Start I, II, and III experience.
Pediatric blood & cancerPineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.
Acta neuropathologicaPatterns of Care and Age-Specific Impact of Extent of Resection and Adjuvant Radiotherapy in Pediatric Pineoblastoma.
NeurosurgeryPure Endoscopic Supracerebellar Infratentorial Approach to the Pineal Region: A Case Series.
World neurosurgeryPediatric embryonal brain tumors in the molecular era.
Expert review of molecular diagnosticsTreatment of pediatric high-grade central nervous system tumors with high-dose methotrexate in combination with multiagent chemotherapy: A single-institution experience.
Pediatric blood & cancerPineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.
Acta neuropathologicaRisk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.
Acta neuropathologicaMolecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.
Acta neuropathologicaPineoblastoma in Adults: A Rare Case Successfully Treated with Multimodal Approach Including Craniospinal Irradiation Using Helical Tomotherapy.
Cureus[Role of CT in diagnosis and monitoring of retinoblastoma in Senegal].
Journal francais d'ophtalmologieTandem high-dose chemotherapy with topotecan-thiotepa-carboplatin and melphalan-etoposide-carboplatin regimens for pediatric high-risk brain tumors.
International journal of clinical oncologyATRX Mutations in Pineal Parenchymal Tumors of Intermediate Differentiation.
Journal of neuropathology and experimental neurologyA Case Report of Adult Pineoblastoma Occurring in a Pregnant Woman.
Anticancer researchPrimary pineal tumors - Unraveling histological challenges and certain clinical myths.
Neurology IndiaAn update on the central nervous system manifestations of DICER1 syndrome.
Acta neuropathologicaRecurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.
Acta neuropathologicaSexsomnia in an Adolescent.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineThe impact on outcomes by using thiotepa in tandem transplant for pediatric high-risk embryonal brain tumors.
Journal of the Chinese Medical Association : JCMAAn Active Duty Sailor With Worsening Headaches and Blurry Vision.
Military medicineAdvances in Diagnostic Immunohistochemistry for Primary Tumors of the Central Nervous System.
Advances in anatomic pathologyNivolumab in the Treatment of Recurrent or Refractory Pediatric Brain Tumors: A Single Institutional Experience.
Journal of pediatric hematology/oncologyUnedited microneurosurgery of a high-grade pineal parenchymal tumor of intermediate differentiation.
Surgical neurology internationalPineal Parenchymal Tumors of Intermediate Differentiation: A long-Term Follow-Up Study in Helsinki Neurosurgery.
World neurosurgerySevere anti-GAD antibody-associated encephalitis after stem cell transplantation.
Brain & developmentExtensive 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 OncologyFeasibility of high-dose chemotherapy protocols to treat infants with malignant central nervous system tumors: Experience from a middle-income country.
Pediatric blood & cancerPineoblastoma in a child with 22q11.2 deletion syndrome.
BMJ case reportsRapid discrimination of pediatric brain tumors by mass spectrometry imaging.
Journal of neuro-oncologyClinical Applications of Quantitative 3-Dimensional MRI Analysis for Pediatric Embryonal Brain Tumors.
International journal of radiation oncology, biology, physicsPrognosis of Pediatric Patients with Pineoblastoma: A SEER Analysis 1990-2013.
World neurosurgeryRecurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.
Nature communicationsTherapeutic 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 neurosurgeryMolecular Classification and Management of Rare Pediatric Embryonal Brain Tumors.
Current oncology reportsGamma Knife treatment of malignant infantile brain tumors - Case report.
Journal of radiosurgery and SBRTPHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours.
HistopathologyRetrospective Analysis of the Clinical Characteristics, Therapeutic Aspects, and Prognostic Factors of 18 Cases of Childhood Pineoblastoma.
World neurosurgeryA Pre-Clinical Assessment of the Pan-ERBB Inhibitor Dacomitinib in Pediatric and Adult Brain Tumors.
Neoplasia (New York, N.Y.)Role of radiotherapy in residual pineal parenchymal tumors.
Clinical neurology and neurosurgeryDICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.
Clinical cancer research : an official journal of the American Association for Cancer ResearchRetinoblastoma, the visible CNS tumor: A review.
Journal of neuroscience researchManagement and outcome of children and adolescents with non-medulloblastoma CNS embryonal tumors in Spain: room for improvement in standards of care.
Journal of neuro-oncologyRisk of cancer in children exposed to antiretroviral nucleoside analogues in utero: The french experience.
Environmental and molecular mutagenesisDICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.
Pediatric blood & cancerThe Posterior Transcallosal Approach to the Pineal Region and Posterior Third Ventricle: Intervenous and Paravenous Variants.
Operative neurosurgery (Hagerstown, Md.)Histology-Stratified Tumor Control and Patient Survival After Stereotactic Radiosurgery for Pineal Region Tumors: A Report From the International Gamma Knife Research Foundation.
World neurosurgeryRetinoblastoma and Neuroblastoma Predisposition and Surveillance.
Clinical cancer research : an official journal of the American Association for Cancer ResearchPTEN, 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 ResearchPediatric imaging in DICER1 syndrome.
Pediatric radiologyTargeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.
Neuro-oncologyRisk of malignancy in 22q11.2 deletion syndrome.
Clinical case reportsPineoblastoma-The Experience at St. Jude Children's Research Hospital.
NeurosurgeryEvaluation 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-oncologyPineal Region Masses in Pediatric Patients.
Neuroimaging clinics of North AmericaPatterns 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 OncologyCat Scratch Disease: Expanded Spectrum.
Ocular oncology and pathologyPineal parenchymal tumour of intermediate differentiation: a rare differential diagnosis of pineal region tumours.
BJR case reportsPineal cysts-A benign association with familial retinoblastoma.
Pediatric hematology and oncologySurvival 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-oncologyA rare case of a pineoblastoma with a rhabdomyoblastic component.
Neuropathology : official journal of the Japanese Society of NeuropathologyAssociações
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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.
- Diagnostic yield from minimally invasive pediatric brain tumor biopsies in the molecular era.
- A photoreceptor state links aggressive brain tumors in children.
- A tumor-associated photoreceptor signature unifies distinct central nervous system malignancies.
- 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
- 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· 2026· PMID 41591981mais citado
- DICER1-Related Tumor Predisposition.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251909(Orphanet)
- MONDO:0016722(MONDO)
- GARD:9369(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
