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ATRT is an aggressive brain tumour of babies and toddlers caused by loss of a single gene, SMARCB1, part of the machinery that opens and closes DNA. Intensive chemotherapy with stem-cell rescue, and radiotherapy where age allows, now cure a meaningful share of children who once had little chance, and drugs aimed at the epigenetic consequence of SMARCB1 loss (EZH2 inhibitors) are in trials.
Atypical teratoid/rhabdoid tumour is a WHO grade 4 embryonal tumour defined by biallelic inactivation of SMARCB1 (INI1) or, rarely, SMARCA4, both core subunits of the SWI/SNF chromatin-remodelling complex. It is one of the genetically simplest human cancers, often with no other recurrent mutation, yet it splits into three epigenetic subgroups (ATRT-TYR, ATRT-SHH, ATRT-MYC) with different locations, ages and outcomes. About a third of children carry a germline SMARCB1 or SMARCA4 alteration (rhabdoid tumour predisposition syndrome), which matters for siblings and for the risk of synchronous renal or soft-tissue rhabdoid tumours. Median age at diagnosis is under two years, which limits radiotherapy.
Few children survived until intensive multimodal protocols were adopted. The COG trial ACNS0333 combined maximal resection, induction chemotherapy (including high-dose methotrexate), three cycles of high-dose chemotherapy with autologous stem-cell rescue, and focal radiotherapy adapted to age, and reported markedly better survival than historical controls (JCO 2020). The European EU-RHAB registry-based regimen (conventional chemotherapy with intraventricular methotrexate, radiotherapy for older children) gives comparable results and forms the basis of the SIOPE ATRT01 trial. Extent of resection, age, metastatic disease and subgroup all predict outcome.
The biology points to therapy: loss of SMARCB1 leaves the PRC2 methyltransferase EZH2 unopposed, and the EZH2 inhibitor tazemetostat, already approved for SMARCB1-negative epithelioid sarcoma in adults, has shown responses in children with ATRT and other rhabdoid tumours in a paediatric phase 1 and is being combined with chemotherapy. Other avenues include CDK4/6 inhibition, aurora kinase A inhibitors (alisertib) and the EZHIP-independent dependency on the residual SWI/SNF subunit BRG1. Methylation-based subgrouping is expected to stratify the next generation of trials.
Rare: a small fraction of childhood brain tumours overall, but among the most common malignant brain tumours in infants under one year (NCI PDQ).
Gliomas infiltrate along white matter and can cross the corpus callosum, medulloblastoma sits in the cerebellum, and CNS lymphoma favours deep periventricular tissue; none spread through lymph nodes.
No conventional lymphatics: gliomas spread along white matter tracts and, rarely, through cerebrospinal fluid; medulloblastoma can seed the spine.
Same organ: Lactotroph pituitary neuroendocrine tumour (prolactinoma), Somatotroph pituitary neuroendocrine tumour (acromegaly), Corticotroph pituitary neuroendocrine tumour (Cushing disease and silent corticotroph tumour), Gonadotroph pituitary neuroendocrine tumour (non-functioning adenoma), Thyrotroph pituitary neuroendocrine tumour (TSH-secreting), Pineocytoma and pineal parenchymal tumour of intermediate differentiation, Pineoblastoma, Papillary tumour of the pineal region, Choroid plexus carcinoma, Glioma & glioblastoma, Primary CNS lymphoma, Medulloblastoma, Paediatric low-grade glioma, Diffuse midline glioma, H3 K27-altered (including DIPG), Ependymoma, Craniopharyngioma, Pituitary tumours (pituitary neuroendocrine tumours) and pituitary carcinoma, Brain and spinal cord tumours (all types), Astrocytoma, IDH-mutant (grades 2 to 4), Oligodendroglioma, IDH-mutant and 1p/19q-codeleted, Paediatric high-grade glioma (excluding diffuse midline glioma), Meningioma, Brain metastases (secondary brain tumours), Vestibular schwannoma (acoustic neuroma), Central nervous system germ cell tumours (germinoma and non-germinomatous), Spinal cord tumours (intramedullary and intradural), WNT-activated medulloblastoma, SHH-activated medulloblastoma, Group 3 and group 4 medulloblastoma (non-WNT/non-SHH)
Nothing recorded yet.
Nothing recorded yet.
Also on OnCo: Symptoms and red flags · Early detection roadmap.
Maximal safe resection followed by an intensive multimodal protocol: ACNS0333-style induction, high-dose chemotherapy with autologous stem-cell rescue, and age-adapted focal radiotherapy; or the EU-RHAB regimen with intraventricular methotrexate. Enrolment in SIOPE ATRT01 or a COG successor where available.
Genetic counselling and testing of parents and siblings; surveillance imaging for synchronous or second rhabdoid tumours in the kidney and soft tissue.
Aurora kinase A inhibition and re-irradiation where feasible, with enrolment in a relapse trial the preferred route; EZH2 inhibition with tazemetostat was used in trials and on compassionate grounds until the drug was withdrawn from all markets in March 2026. No regimen is standard at relapse, and symptom and supportive care run alongside from the start.
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ACNS0333 established the treatment backbone for atypical teratoid/rhabdoid tumour and the platform on which new agents are being tested.
One cancer page on OnCo cites this paper by its DOI; this record gives the citation a page of its own so a reader can follow it without leaving OnCo. Read the abstract above alongside the citing page listed under Related; the record was created automatically from the Europe PMC entry and its figures have not been checked by hand.
Query for this cancer: (TITLE:"Atypical teratoid/rhabdoid tumour" OR ABSTRACT:"Atypical teratoid/rhabdoid tumour" OR TITLE:"ATRT" OR ABSTRACT:"ATRT" OR TITLE:"AT/RT" OR ABSTRACT:"AT/RT" OR TITLE:"Rhabdoid tumour of the CNS" OR ABSTRACT:"Rhabdoid tumour of the CNS" OR TITLE:"Rhabdoid tumour predisposition syndrome" OR ABSTRACT:"Rhabdoid tumour predisposition syndrome") AND (treatment OR therapy OR trial OR survival OR diagnosis). Results are unfiltered search hits about Atypical teratoid/rhabdoid tumour (ATRT), not a curated reading list.
Rorke and colleagues recognise the rhabdoid tumour of the CNS.
Versteege and colleagues (Nature) find biallelic loss, the first chromatin-remodelling tumour suppressor.
Johann and Torchia (Cancer Cell) describe ATRT-TYR, ATRT-SHH and ATRT-MYC by methylation and expression.
COG phase 3 with high-dose chemotherapy and autologous rescue (JCO 2020).
First EZH2 inhibitor approval; paediatric rhabdoid tumour responses in the phase 1 programme.
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Bleeding that does not stop by itself, bleeding from more than one site, or new bruising in several places or one large area.
Fatal if given intrathecally: label all syringes.
Dose by Calvert formula using GFR (see the calculators).
Dose reduce or avoid for CrCl below 60 (carboplatin is the alternative).
High-dose methotrexate requires normal renal function, hydration, urine alkalinisation and leucovorin rescue with level monitoring.
The leukaemia risk after chemotherapy was described in the era of mustards and etoposide, and it did not stay there. Platinum drugs carry it, PARP inhibitors raise it about two and a half times against placebo, and lenalidomide with oral melphalan raises it nearly fivefold against melphalan alone. The absolute numbers are small, but the choice of partner drug is sometimes a real decision.
See all on the product pages:CarboplatinCisplatinCyclophosphamideMethotrexateVincristine·Printable cards in the navigator
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