{"entity":{"id":"pineoblastoma","kind":"cancer","name":"Pineoblastoma","aka":["Pineal embryonal tumour","Pineoblastoma (WHO grade 4)","Trilateral retinoblastoma (pineoblastoma with bilateral retinoblastoma)"],"tldr":"Pineoblastoma is a rare, aggressive brain tumour of the pineal gland, mostly in children, made of primitive cells like those of medulloblastoma. It is treated with surgery, radiotherapy to the whole brain and spine in children old enough, and chemotherapy; infants do worst, and molecular subgroups discovered in 2020, including ones linked to the DICER1 gene, are starting to guide treatment.","summary":"Pineoblastoma is the grade 4 embryonal tumour of the pineal gland in the WHO central nervous system classification (NCI PDQ). DNA methylation profiling of 72 core cases from the Rare Brain Tumor Consortium defined five molecular subgroups: groups 1 and 2 almost exclusively carried homozygous loss-of-function alterations in the microRNA biogenesis genes DICER1, DROSHA and DGCR8, and the subgroups differed in age, metastasis and survival (Acta Neuropathologica 2020). The pooled cohort of 178 cases from the Children's Oncology Group and institutional series found age the strongest determinant of outcome, with sex-specific differences, and noted that no pineoblastoma-specific trial has ever been run (Neuro-Oncology Advances 2022). Pineoblastoma with bilateral retinoblastoma is the trilateral retinoblastoma of RB1 carriers.\n\nHow it differs from its parent: it is treated on the medulloblastoma and CNS embryonal tumour protocols (craniospinal irradiation and chemotherapy) rather than as a glioma, it seeds the spinal fluid, and it is one of the DICER1 syndrome tumours, so germline testing and family screening follow the diagnosis.\n\nHow common: no incidence figure; 178 cases in 30 years across the pooled series (Neuro-Oncology Advances 2022).\n\nTreatment: maximal safe resection, craniospinal irradiation with a boost in children over about three years, and platinum-based chemotherapy, with high-dose chemotherapy and stem cell rescue used to defer or replace radiotherapy in infants, as the PDQ embryonal tumour summary describes; molecular subgroup and DICER1 status are being built into current protocols.","asOf":"2026-09-24","wikipedia":"https://en.wikipedia.org/wiki/Pineoblastoma","links":[{"label":"NCI PDQ: childhood medulloblastoma and other CNS embryonal tumours treatment","url":"https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq"},{"label":"Acta Neuropathologica 2020: pineoblastoma molecular subgroups, Rare Brain Tumor Consortium registry","url":"https://doi.org/10.1007/s00401-019-02111-y"},{"label":"Neuro-Oncology Advances 2022: paediatric pineoblastoma, pooled outcomes of 178 North American and Australian cases","url":"https://doi.org/10.1093/noajnl/vdac056"}],"tags":["subtype-page","wave4","rare"],"related":["brain-tumours","medulloblastoma","pineal-parenchymal-tumours","papillary-tumour-pineal-region","retinoblastoma","pleuropulmonary-blastoma-dicer1"],"cancers":[],"sections":[],"technologies":[],"targets":["dicer1"],"drugs":["cisplatin","carboplatin","vincristine","cyclophosphamide"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"group":"paediatric","burden":"Rare: the Rare Brain Tumor Consortium registry gathered 91 patients from 29 centres (Acta Neuropathologica 2020) and a pooled North American and Australian cohort held 178 cases over 30 years (Neuro-Oncology Advances 2022).","subtypes":["Pineal pineoblastoma, DICER1- or DROSHA-altered (molecular groups 1 and 2; DICER1 syndrome)","Pineoblastoma, MYC or FOXR2-activated group","Pineoblastoma, RB1-altered (trilateral retinoblastoma)","Pineoblastoma in infants (worst outcome; radiotherapy-sparing protocols)"],"biomarkers":["DNA methylation subgroup","DICER1, DROSHA and DGCR8 alterations; germline DICER1 testing","RB1 status","Spinal MRI and cerebrospinal fluid cytology"],"standardOfCare":[{"setting":"All cases","approach":"Maximal safe resection, craniospinal irradiation with boost in older children, platinum-based chemotherapy; high-dose chemotherapy with stem cell rescue to spare radiotherapy in infants, as on the CNS embryonal tumour summary.","refs":["brain-tumours","medulloblastoma","cisplatin","carboplatin","vincristine"]}],"stateOfArt":[],"history":[],"pipeline":[],"openProblems":[],"parent":"brain-tumours"},"route":"/cancers/pineoblastoma/","neighbours":{"cancer":[{"id":"brain-tumours","kind":"cancer","name":"Brain and spinal cord tumours (all types)","route":"/cancers/brain-tumours/"},{"id":"choroid-plexus-carcinoma","kind":"cancer","name":"Choroid plexus carcinoma","route":"/cancers/choroid-plexus-carcinoma/"},{"id":"medulloblastoma","kind":"cancer","name":"Medulloblastoma","route":"/cancers/medulloblastoma/"},{"id":"papillary-tumour-pineal-region","kind":"cancer","name":"Papillary tumour of the pineal region","route":"/cancers/papillary-tumour-pineal-region/"},{"id":"pineal-parenchymal-tumours","kind":"cancer","name":"Pineocytoma and pineal parenchymal tumour of intermediate differentiation","route":"/cancers/pineal-parenchymal-tumours/"},{"id":"pleuropulmonary-blastoma-dicer1","kind":"cancer","name":"Pleuropulmonary blastoma (types I, Ir, II and III)","route":"/cancers/pleuropulmonary-blastoma-dicer1/"},{"id":"retinoblastoma","kind":"cancer","name":"Retinoblastoma","route":"/cancers/retinoblastoma/"}],"target":[{"id":"dicer1","kind":"target","name":"DICER1","route":"/targets/dicer1/"}],"drug":[{"id":"carboplatin","kind":"drug","name":"Carboplatin","route":"/drugs/carboplatin/"},{"id":"cisplatin","kind":"drug","name":"Cisplatin","route":"/drugs/cisplatin/"},{"id":"cyclophosphamide","kind":"drug","name":"Cyclophosphamide","route":"/drugs/cyclophosphamide/"},{"id":"vincristine","kind":"drug","name":"Vincristine","route":"/drugs/vincristine/"}]}}