ULTRA-RARE CANCERPediatric Brain TumorWHO 5th Edition Classification

Atypical Teratoid Rhabdoid Tumor (ATRT)

Ultra-Rare Malignancy (< 1 case per 1,000,000 / year) • Clinical Staging, Genomic Targets & Vetted Specialists

An aggressive embryonal tumour of the central nervous system defined by loss of the SMARCB1 (INI1) tumour suppressor. It occurs most often in children under three years, which constrains how much radiotherapy can safely be given.

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Emergent Referral AdvisoryImmediate Action

Certain rare malignancies progress rapidly or carry acute risk of airway obstruction, acute spinal compression, hydrocephalus, or biopsy-seeding. Do not perform needle biopsy or surgery outside of an NCI-designated specialty sarcoma or neuro-oncology unit without multidisciplinary tumor board review.

Report immediately to an emergency department or tertiary oncologist upon:

  • Rapidly enlarging head in an infant
  • Acute hydrocephalus
Who It Affects

Infants and children, usually under 3 years

Annual Incidence

Approximately 1-3 per million children under 3 per year

Clinical Evidence Review

Last audited: 2026-08-13 against NCCN, ESMO, and WHO 5th ed. guidelines.

Clinical Presentation & Hallmark Symptoms

Presenting signs most frequently observed across clinical case series

Vomiting and irritability, often worse in the morning
Enlarging head circumference in infants
Lethargy or loss of developmental milestones
Head tilt, unsteadiness, or cranial nerve deficits
Seizures

Genomic Profiling & Defining Molecular Lesions

Critical diagnostic fusions, somatic mutations, and therapeutic targets

Rare malignancies frequently depend on distinct oncogenic drivers rather than conventional environmental carcinogens. Comprehensive Next-Generation Sequencing (NGS comprehensive panel) and FISH/IHC are mandatory to establish the true diagnosis and screen for basket trial agents.

SMARCB1 (INI1) lossSMARCA4 (BRG1) loss - rare variant

Standard-of-Care Treatment Protocol

Frontline and multimodal strategies established under international consensus guidelines

1

Maximal safe surgical resection

Administered in specialized high-volume oncology programs with subspecialty pathology and organ-preservation protocols.

2

Intensive multi-agent chemotherapy (e.g. ACNS0333-style regimens)

Administered in specialized high-volume oncology programs with subspecialty pathology and organ-preservation protocols.

3

High-dose chemotherapy with autologous stem cell rescue

Administered in specialized high-volume oncology programs with subspecialty pathology and organ-preservation protocols.

4

Focal or craniospinal radiotherapy, age-adapted

Administered in specialized high-volume oncology programs with subspecialty pathology and organ-preservation protocols.

5

Intrathecal chemotherapy in selected protocols

Administered in specialized high-volume oncology programs with subspecialty pathology and organ-preservation protocols.

Clinical Trial Advisory: For rare and ultra-rare malignancies, enrollment in an active clinical trial or expanded-access program is widely considered the preferred standard of care by ASCO and NCCN panels.

Prognosis & Disease Trajectory

Objective clinical outlook without false reassurance

Historically poor, but materially improved by intensive multimodal therapy at experienced centres. Two-year survival of roughly 40-50% is now reported in trial cohorts; gross total resection, older age at diagnosis and absence of metastasis all predict better outcome.

Note: Statistics reflect cohort averages. Individual outcomes depend heavily on performance status, resectability, biomarker expression, and timely access to specialized tertiary care.

Active Research, Biomarkers & Clinical Trials

Novel investigational agents, phase I/II trials, and international rare disease consortia

EZH2 inhibitors (tazemetostat), CDK4/6 inhibition and immune checkpoint blockade are under study, exploiting the SWI/SNF-deficient state.

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Expert Clinicians

Verified Specialists for Atypical Teratoid Rhabdoid Tumor

Browse All Oncologists

Dr. Amar Gajjar

Pediatric Neuro-Oncologist, Chair of Oncology

35+ yrs exp

St. Jude Children’s Research Hospital

Memphis, USA

Pediatric brain tumorsATRTClinical research
Vetted DirectoryConsult Specialist

Dr. Soh Shui Yen

Senior Consultant, Pediatric Hematology/Oncology

15+ yrs exp

KK Women’s and Children’s Hospital (KKH)

Singapore, Singapore

Pediatric CNS tumorsATRTLeukemias
Vetted DirectoryConsult Specialist

Prof. Darren Hargrave

Consultant Pediatric Neuro-Oncologist

20+ yrs exp

Great Ormond Street Hospital

London, United Kingdom

Pediatric brain tumorsATRTEarly phase trials
Vetted DirectoryConsult Specialist

Dr. Girish Chinnaswamy

Professor & Head, Pediatric Oncology

20+ yrs exp

Tata Memorial Centre

Mumbai, India

Pediatric oncologyNeuro-oncologyATRT
Vetted DirectoryConsult Specialist
Hospital Network

Designated Cancer Centers with Dedicated Programs

Search All 72 NCI Centers

Memorial Sloan Kettering Cancer Center

NY

NCI-Designated Comprehensive Cancer Center

World-leading rare tumor board & pediatric solid tumor protocols

Proton TherapyCAR-T Cell TherapyRobotic Surgery
1,000+ Active Clinical TrialsView Center Profile

University of Texas MD Anderson Cancer Center

TX

NCI-Designated Comprehensive Cancer Center

Largest specialized rare cancer and sarcoma multidisciplinary program

Proton TherapyCAR-T Cell TherapyCyberKnife SBRT
1,200+ Active Clinical TrialsView Center Profile

Dana-Farber / Harvard Cancer Center

MA

NCI-Designated Comprehensive Cancer Center

Pioneering genomic molecular tumor boards & rare histologies

Proton TherapyCAR-T Cell TherapyPhase I Unit
1,100+ Active Clinical TrialsView Center Profile

Mayo Clinic Comprehensive Cancer Center

MN

NCI-Designated Comprehensive Cancer Center

High-volume surgical oncology & rare endocrine/neuroendocrine expertise

Proton TherapyCAR-T Cell TherapyCyberKnife SBRT
600+ Active Clinical TrialsView Center Profile

Frequently Asked Clinical Questions

Authoritative guidance on diagnosis, tumor boards, genomic markers, and care options

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Independent Tumor Board Review

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