ULTRA-RARE CANCERPediatric TumorWHO 5th Edition Classification

Malignant Rhabdoid Tumor

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

An aggressive childhood cancer defined, like ATRT, by loss of SMARCB1 (INI1). When it arises outside the central nervous system it most often affects the kidney or soft tissue. A significant minority of children carry a germline SMARCB1 alteration (rhabdoid tumour predisposition syndrome), which makes genetic counselling part of standard care.

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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:

  • Any rhabdoid tumour - test germline SMARCB1 and refer for counselling
Who It Affects

Infants and young children, median under 2 years

Annual Incidence

Approximately 0.6 per million children 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

Abdominal mass or swelling
Blood in the urine with kidney tumours
Fever and irritability
Pain at the tumour site
Failure to thrive in infants

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) biallelic lossGermline SMARCB1 in about 25-35%

Standard-of-Care Treatment Protocol

Frontline and multimodal strategies established under international consensus guidelines

1

Surgical resection where feasible

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

2

Intensive multi-agent chemotherapy

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

3

Radiotherapy, age-adapted

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

4

High-dose chemotherapy with stem cell rescue in selected protocols

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

5

Germline SMARCB1 testing and family genetic counselling

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

Poor, particularly in infants under one year and in metastatic disease. Complete resection and older age at diagnosis are the strongest favourable factors.

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 inhibition (tazemetostat) is approved in some rhabdoid contexts and under continued study; CDK4/6 inhibitors and immunotherapy combinations are in trials.

Need Help Matching to an Active Rare Cancer Trial?

ByOnco scans ClinicalTrials.gov, NCI trial networks, and institutional registries for open patient cohorts.

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Expert Clinicians

Verified Specialists for Malignant Rhabdoid Tumor

Browse All Oncologists

Dr. Jack Su

Pediatric Oncologist

15+ yrs exp

Texas Children's Hospital

Houston, USA

Pediatric OncologyMRTINI1-targeted Therapies
Vetted DirectoryConsult Specialist

Dr. Ann-Marie Teo

Pediatric Oncologist

15+ yrs exp

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

Singapore, Singapore

Pediatric OncologyMRTMultidisciplinary Care
Vetted DirectoryConsult Specialist

Dr. Dominique Valteau-Couanet

Pediatric Oncologist

30+ yrs exp

Gustave Roussy

Villejuif, France

Pediatric Solid TumorsMRTIntensive Multimodal Regimens
Vetted DirectoryConsult Specialist

Dr. Girish Chinnaswamy

Professor & Head, Pediatric Oncology

20+ yrs exp

Tata Memorial Centre

Mumbai, India

Pediatric OncologyMRTIntensive Multimodal Therapy
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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