Rhabdoid tumor

Summary

Rhabdoid tumor (MONDO:0002728) is a cancer (an umbrella term covering 5 Mondo subtypes) and 53 clinical trials. Top therapeutic interventions include tazemetostat, larotrectinib, and cisplatin. A subtype of embryonal neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Umbrella term: 5 Mondo subtypes
• Phenotypes (HPO): 24
• Clinical trials: 53

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		500	Worldwide	Validated
Annual incidence	<1 / 1 000 000		Europe	Validated

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0000737	Irritability	Frequent (30-79%)
HP:0000790	Hematuria	Frequent (30-79%)
HP:0000822	Hypertension	Frequent (30-79%)
HP:0001482	Subcutaneous nodule	Frequent (30-79%)
HP:0001824	Weight loss	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0002017	Nausea and vomiting	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0002093	Respiratory insufficiency	Frequent (30-79%)
HP:0002315	Headache	Frequent (30-79%)
HP:0002716	Lymphadenopathy	Frequent (30-79%)
HP:0002896	Neoplasm of the liver	Frequent (30-79%)
HP:0004396	Poor appetite	Frequent (30-79%)
HP:0006824	Cranial nerve paralysis	Frequent (30-79%)
HP:0009726	Renal neoplasm	Frequent (30-79%)
HP:0011029	Internal hemorrhage	Frequent (30-79%)
HP:0012246	Oculomotor nerve palsy	Frequent (30-79%)
HP:0100006	Neoplasm of the central nervous system	Frequent (30-79%)
HP:0100021	Cerebral palsy	Frequent (30-79%)
HP:0100242	Sarcoma	Frequent (30-79%)
HP:0001873	Thrombocytopenia	Occasional (5-29%)
HP:0001903	Anemia	Occasional (5-29%)
HP:0002301	Hemiplegia	Occasional (5-29%)
HP:0003072	Hypercalcemia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	rhabdoid tumor
Mondo ID	MONDO:0002728
EFO	EFO:0005701
MeSH	D018335
Orphanet	69077
DOID	DOID:3672
NCIT	C3808
UMLS	C0206743
MedGen	64646
GARD	0007572
Is cancer (heuristic)	yes

Also known as: malignant rhabdoid tumor · rhabdoid sarcoma · rhabdoid tumor

Data availability: 46 cell lines.

Disease family

This is a subtype of embryonal neoplasm. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › embryonal neoplasm › rhabdoid tumor

Related subtypes (11): notochordal tumor, primitive neuroectodermal tumor, blastoma, Wilms tumor, testicular embryonal carcinoma, medulloblastoma, pineoblastoma, congenital mesoblastic nephroma, intraocular medulloepithelioma, hepatoblastoma, Ewing sarcoma/peripheral primitive neuroectodermal tumor

Subtypes (5): striated muscle rhabdoid tumor, rhabdoid tumor of the kidney, familial rhabdoid tumor, atypical teratoid rhabdoid tumor, extrarenal rhabdoid tumor

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): ANTINEOPLASTON A10.

Clinical trials & evidence

Clinical trials

Clinical trials: 53.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	21
PHASE1	21
PHASE1/PHASE2	5
Not specified	5
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00653068	PHASE3	COMPLETED	Combination Chemotherapy, Radiation Therapy, and an Autologous Peripheral Blood Stem Cell Transplant in Treating Young Patients With Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System
NCT02114229	PHASE2	ACTIVE_NOT_RECRUITING	Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors
NCT03155620	PHASE2	ACTIVE_NOT_RECRUITING	Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03210714	PHASE2	ACTIVE_NOT_RECRUITING	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652	PHASE2	ACTIVE_NOT_RECRUITING	Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213704	PHASE2	ACTIVE_NOT_RECRUITING	Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial)
NCT03698994	PHASE2	ACTIVE_NOT_RECRUITING	Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
NCT03709680	PHASE2	ACTIVE_NOT_RECRUITING	Study Of Palbociclib Combined With Chemotherapy In Pediatric Patients With Recurrent/Refractory Solid Tumors
NCT04195555	PHASE2	ACTIVE_NOT_RECRUITING	Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
NCT04284774	PHASE2	ACTIVE_NOT_RECRUITING	Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04320888	PHASE2	ACTIVE_NOT_RECRUITING	Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04416568	PHASE2	ACTIVE_NOT_RECRUITING	Study of Nivolumab and Ipilimumab in Children and Young Adults With INI1-Negative Cancers
NCT04901702	PHASE1/PHASE2	RECRUITING	Study of Onivyde With Talazoparib or Temozolomide in Children With Recurrent Solid Tumors and Ewing Sarcoma
NCT05286801	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Tiragolumab and Atezolizumab for the Treatment of Relapsed or Refractory SMARCB1 or SMARCA4 Deficient Tumors
NCT05407441	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Tazemetostat+Nivo/Ipi in INI1-Neg/SMARCA4-Def Tumors
NCT05985161	PHASE2	RECRUITING	A Study of Selinexor in People With Wilms Tumors and Other Solid Tumors
NCT06622941	PHASE2	RECRUITING	Study to ONO-4538 in Patients With Rhabdoid Tumor
NCT06625190	PHASE1/PHASE2	RECRUITING	Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors
NCT00179803	PHASE2	COMPLETED	Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors
NCT02581384	PHASE1/PHASE2	TERMINATED	Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors
NCT02684071	PHASE2	TERMINATED	Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors
NCT03213665	PHASE2	COMPLETED	Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
NCT03213678	PHASE2	COMPLETED	Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)
NCT03220035	PHASE2	COMPLETED	Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)
NCT03233204	PHASE2	COMPLETED	Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial)
NCT03526250	PHASE2	COMPLETED	Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial)
NCT04897880	PHASE2	TERMINATED	A Study of Panobinostat in Pediatric Patients With Solid Tumors Including MRT/ATRT
NCT03618381	PHASE1	ACTIVE_NOT_RECRUITING	EGFR806 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults
NCT04377932	PHASE1	ACTIVE_NOT_RECRUITING	Interleukin-15 Armored Glypican 3-specific Chimeric Antigen Receptor Expressed in T Cells for Pediatric Solid Tumors
NCT04483778	PHASE1	ACTIVE_NOT_RECRUITING	B7H3 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults
NCT04715191	PHASE1	RECRUITING	Interleukin-15 and -21 Armored Glypican-3-specific Chimeric Antigen Receptor Expressed in T Cells for Pediatric Solid Tumors
NCT04897321	PHASE1	RECRUITING	B7-H3-Specific Chimeric Antigen Receptor Autologous T-Cell Therapy for Pediatric Patients With Solid Tumors (3CAR)
NCT05103631	PHASE1	ACTIVE_NOT_RECRUITING	Interleukin-15 Armored Glypican 3-specific Chimeric Antigen Receptor Expressed in Autologous T Cells for Solid Tumors
NCT06198296	PHASE1	RECRUITING	Immunotherapy For Adults With GPC3-Positive Solid Tumors Using IL-15 and IL-21 Armored GPC3-CAR T Cells
NCT07148050	PHASE1	RECRUITING	Immunotherapy for Solid Tumor Malignancies in Pediatrics Using Interleukin-15 and -21 Armored Glypican-3-specific Chimeric Antigen Receptor T Cells
NCT00100880	PHASE1	COMPLETED	Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors
NCT00217412	PHASE1	COMPLETED	Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia
NCT00326664	PHASE1	COMPLETED	AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors
NCT00946335	PHASE1	COMPLETED	ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors
NCT01076530	PHASE1	COMPLETED	Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TAZEMETOSTAT	4	6
LAROTRECTINIB	4	4
CISPLATIN	4	2
ENSARTINIB	4	2
ERDAFITINIB	4	2
IVOSIDENIB	4	2
SELPERCATINIB	4	2
SELUMETINIB	4	2
VEMURAFENIB	4	2
FLUDEOXYGLUCOSE F 18	4	1
LEUCOVORIN	4	1
PANOBINOSTAT	4	1
THIOTEPA	4	1
TIPIFARNIB	3	2
ALISERTIB	3	1
SAMOTOLISIB	2	2
ULIXERTINIB	2	2
CHEMBL5398431	0	6
CHEMBL3415553	0	2
CHEMBL4209555	0	2
CHEMBL5430810	0	2
PLX-4720	0	2
CHEMBL365847	0	1
CHEMBL344227	0	1
CHEMBL3764816	0	1
CHEMBL5724798	0	1