Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (645 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles rhabdomyosarcoma but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Rhabdoid Tumors; Tumor, Rhabdoid; Tumors, Rhabdoid.
Where it fits in the MeSH classification
- Broader topics
- Neoplasms, Complex and Mixed
Related concepts
Research landscape
PubMed indexes 1,881 records tagged with the MeSH heading “Rhabdoid Tumor” (counts retrieved 2026-10-29). 490 of them (26.0%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 719 records.
Reviews account for 311 records (16.5%) and meta-analyses for 8. Randomized controlled trials number 2 (0.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 161 |
| 2000-2009 | 511 |
| 2010-2019 | 719 |
| 2020 onward | 490 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 311 | 16.5% |
| Meta-analyses | 8 | 0.4% |
| Randomized controlled trials | 2 | 0.1% |
Method: PubMed query "Rhabdoid Tumor"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in cancer and oncology
Cancer research spans very different kinds of evidence. Laboratory studies in cell lines and animal models reveal mechanisms but often do not translate to patients. Early-phase trials mainly test safety and dosing, while phase 3 randomized trials and their meta-analyses are the usual basis for treatment conclusions. Outcomes also differ in meaning: tumour shrinkage, progression-free survival and overall survival are not interchangeable, and screening studies can be distorted by lead-time and overdiagnosis. When reading a result, check the cancer type and stage studied, the comparison treatment, and which outcome was measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| BRD9 defines a SWI/SNF sub-complex and constitutes a specific vulnerability in malignant rhabdoid tumors | 2019 | Research article Design not recorded in structured metadata | 189 | cc by PMID 31015438 · DOI · PMC6479050 |
| Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma | 2021 | Clinical trial Design not recorded in structured metadata | 150 | cc by PMID 33547292 · DOI · PMC7865061 |
| The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation | 2016 | Research article Design not recorded in structured metadata | 102 | cc by PMID 26818002 · DOI · PMC4738337 |
| Paediatric Therapeutic Development Workshop on rhabdoid tumours | 2026 | Review article Design not recorded in structured metadata | 1 | cc by PMID 41680284 · DOI · PMC13184088 |
BRD9 defines a SWI/SNF sub-complex and constitutes a specific vulnerability in malignant rhabdoid tumors [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Bromodomain-containing protein 9 (BRD9) is a recently identified subunit of SWI/SNF(BAF) chromatin remodeling complexes, yet its function is poorly understood.
- Closing excerpt
- Collectively, our results reveal a BRD9-containing SWI/SNF subcomplex is required for the survival of SMARCB1-mutant RTs.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (150 words)
Bromodomain-containing protein 9 (BRD9) is a recently identified subunit of SWI/SNF(BAF) chromatin remodeling complexes, yet its function is poorly understood. Here, using a genome-wide CRISPR-Cas9 screen, we show that BRD9 is a specific vulnerability in pediatric malignant rhabdoid tumors (RTs), which are driven by inactivation of the SMARCB1 subunit of SWI/SNF. We find that BRD9 exists in a unique SWI/SNF sub-complex that lacks SMARCB1, which has been considered a core subunit. While SMARCB1-containing SWI/SNF complexes are bound preferentially at enhancers, we show that BRD9-containing complexes exist at both promoters and enhancers. Mechanistically, we show that SMARCB1 loss causes increased BRD9 incorporation into SWI/SNF thus providing insight into BRD9 vulnerability in RTs. Underlying the dependency, while its bromodomain is dispensable, the DUF3512 domain of BRD9 is essential for SWI/SNF integrity in the absence of SMARCB1. Collectively, our results reveal a BRD9-containing SWI/SNF subcomplex is required for the survival of SMARCB1-mutant RTs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 31015438 · DOI · PMC6479050
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Sarcomatoid and rhabdoid (S/R) renal cell carcinoma (RCC) are highly aggressive tumors with limited molecular and clinical characterization.
- Closing excerpt
- Our findings build on prior work and shed light on the molecular drivers of aggressivity and responsiveness to ICI of S/R RCC.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (148 words)
Sarcomatoid and rhabdoid (S/R) renal cell carcinoma (RCC) are highly aggressive tumors with limited molecular and clinical characterization. Emerging evidence suggests immune checkpoint inhibitors (ICI) are particularly effective for these tumors, although the biological basis for this property is largely unknown. Here, we evaluate multiple clinical trial and real-world cohorts of S/R RCC to characterize their molecular features, clinical outcomes, and immunologic characteristics. We find that S/R RCC tumors harbor distinctive molecular features that may account for their aggressive behavior, including BAP1 mutations, CDKN2A deletions, and increased expression of MYC transcriptional programs. We show that these tumors are highly responsive to ICI and that they exhibit an immune-inflamed phenotype characterized by immune activation, increased cytotoxic immune infiltration, upregulation of antigen presentation machinery genes, and PD-L1 expression. Our findings build on prior work and shed light on the molecular drivers of aggressivity and responsiveness to ICI of S/R RCC.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 33547292 · DOI · PMC7865061
The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Rhabdoid tumours (RTs) are highly aggressive tumours of infancy, frequently localized in the central nervous system (CNS) where they are termed atypical teratoid/rhabdoid tumours (AT/RTs) and characterized by bi-allelic inactivation of the SMARCB1 tumour suppressor gene.
- Closing excerpt
- Moreover, intra- and inter-species comparisons of tumours reveal that human and mouse RTs can be split into different entities that may underline the variety of RT cells of origin.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (148 words)
Rhabdoid tumours (RTs) are highly aggressive tumours of infancy, frequently localized in the central nervous system (CNS) where they are termed atypical teratoid/rhabdoid tumours (AT/RTs) and characterized by bi-allelic inactivation of the SMARCB1 tumour suppressor gene. In this study, by temporal control of tamoxifen injection in Smarcb1(flox/flox);Rosa26-Cre(ERT2) mice, we explore the phenotypes associated with Smarcb1 inactivation at different developmental stages. Injection before E6, at birth or at 2 months of age recapitulates previously described phenotypes including embryonic lethality, hepatic toxicity or development of T-cell lymphomas, respectively. Injection between E6 and E10 leads to high penetrance tumours, mainly intra-cranial, with short delays (median: 3 months). These tumours demonstrate anatomical, morphological and gene expression profiles consistent with those of human AT/RTs. Moreover, intra- and inter-species comparisons of tumours reveal that human and mouse RTs can be split into different entities that may underline the variety of RT cells of origin.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 26818002 · DOI · PMC4738337
Paediatric Therapeutic Development Workshop on rhabdoid tumours [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Rhabdoid tumours (RT) are malignancies of the central nervous system, kidneys, liver and soft tissues that most commonly affect very young children with survival rates below 30% in high-risk cohorts.
- Closing excerpt
- Combinations of EZH2, MDM2 inhibitors and selective inhibitors of nuclear export should be evaluated robustly preclinically and drive early clinical studies.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (199 words)
Rhabdoid tumours (RT) are malignancies of the central nervous system, kidneys, liver and soft tissues that most commonly affect very young children with survival rates below 30% in high-risk cohorts. Treatment entails surgery, intensive chemotherapy and radiotherapy, associated with substantial short- and long-term toxicities. There is an unmet need to develop targeted therapies for RT to improve patient outcomes and mitigate the toxicities of current therapy. Detailed research followed by a workshop had the objective of enabling the development of targeted therapeutics for RT. Given the inherent commonality of their biology (i.e. biallelic inactivation of SMARCB1 or more rarely SMARCA4) the therapeutic approach should be similar for intra-cranial and extra-cranial tumours. DDB1-CUL4-associated factor 5 is a promising target, and the development of small molecule binders/degraders is a priority. Enhancer of zeste 2 polycomb repressive complex 2 subunit (EZH2) degraders may have greater therapeutic potential than inhibitors. Fibroblast growth factor receptor and platelet-derived growth factor receptor inhibitors may have value in subgroups. Mouse double minute 2 homologue (MDM2) is a priority target for novel therapeutic development and combination trials. Combinations of EZH2, MDM2 inhibitors and selective inhibitors of nuclear export should be evaluated robustly preclinically and drive early clinical studies.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41680284 · DOI · PMC13184088
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article INI1-deficient tumors: diagnostic features and molecular genetics [5]
- Research article Molecular subgrouping of atypical teratoid/rhabdoid tumors-a reinvestigation and current consensus [6]
- Research article Oncogenic roles of SMARCB1/INI1 and its deficient tumors [7]
- Research article Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies [8]
- Research article Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion [9]
- Research article The role of SMARCB1/INI1 in development of rhabdoid tumor [10]
References
- Wang X, Wang S, Troisi EC, Howard TP, Haswell JR, Wolf BK, et al.. BRD9 defines a SWI/SNF sub-complex and constitutes a specific vulnerability in malignant rhabdoid tumors. . 2019. PMID 31015438 · DOI · PMC6479050
- Bakouny Z, Braun DA, Shukla SA, Pan W, Gao X, Hou Y, et al.. Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma. . 2021. PMID 33547292 · DOI · PMC7865061
- Han ZY, Richer W, Fréneaux P, Chauvin C, Lucchesi C, Guillemot D, et al.. The occurrence of intracranial rhabdoid tumours in mice depends on temporal control of Smarcb1 inactivation. . 2016. PMID 26818002 · DOI · PMC4738337
- Montiel Equihua C, Molenaar JJ, Areso I, Biegel JA, Blanc P, Chi SN, et al.. Paediatric Therapeutic Development Workshop on rhabdoid tumours. . 2026. PMID 41680284 · DOI · PMC13184088
- Hollmann TJ, Hornick JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol. 2011. PMID 21934399 · DOI
- Ho B, Johann PD, Grabovska Y, De Dieu Andrianteranagna MJ, Yao F, Frühwald M, et al.. Molecular subgrouping of atypical teratoid/rhabdoid tumors-a reinvestigation and current consensus. Neuro Oncol. 2020. PMID 31889194 · DOI · PMC7229260
- Kohashi K, Oda Y. Oncogenic roles of SMARCB1/INI1 and its deficient tumors. Cancer Sci. 2017. PMID 28109176 · DOI · PMC5406539
- Frühwald MC, Biegel JA, Bourdeaut F, Roberts CW, Chi SN. Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies. Neuro Oncol. 2016. PMID 26755072 · DOI · PMC4864253
- Wick MR, Ritter JH, Dehner LP. Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. Semin Diagn Pathol. 1995. PMID 8545590
- Roberts CW, Biegel JA. The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009. PMID 19305156 · DOI · PMC2709499
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.