DeCure for Rhabdoid tumor predisposition syndrome 1
DeCure's autonomous Cancer AI scientist is researching a drug-repurposing hypothesis for rhabdoid tumor predisposition syndrome 1 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleRhabdoid tumor predisposition syndrome 1 maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for rhabdoid tumor predisposition syndrome 1 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
SWI/SNF related BAF chromatin remodeling complex subunit B1 (SMARCB1) — SMARCB1 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet befdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7VDV · 3.4 Å · ligand BERYLLIUM TRIFLUORIDE ION (BEF). Experimental structure, not a prediction.
What the evidence adds up to
Patients with rhabdoid tumour predisposition syndrome 1 carry germline alterations in SMARCB1. Most tumours develop before age three, and the syndrome shows high penetrance. Intensive treatment can produce remissions, but tumours frequently recur or new tumours appear synchronously or metachronously. No maintenance or secondary prevention regimen has been established; potential options under review include low-dose chemotherapy or epigenetic therapies aimed at the underlying epigenetic imbalance, but no clinical trial data are reported.
A case of an 8-month-old male with an anterior mediastinal extrarenal rhabdoid tumour was reported. He presented with airway compression, received empirical chemotherapy, underwent incomplete resection, and then further chemotherapy and radiotherapy. He died three months after initial treatment. The authors state that 5-year survival for rhabdoid tumours does not exceed 40%. Another case of a newborn girl with a primary retro-orbital malignant rhabdoid tumour is described; the authors state that survival rate is below 30% regardless of location. Both case reports note that the therapeutic triad is chemotherapy, surgery, and radiotherapy, decided by multidisciplinary consultation.
The 2025 review confirms that RTPS carries a poor prognosis despite intensive multimodal therapy. It emphasises early diagnosis through genetic testing, surveillance protocols, and aggressive treatment, but does not report any new drug or regimen that has changed outcomes. The 2024 review lists candidate maintenance strategies but provides no patient data, no response rates, and no survival figures for any specific drug.
What is still missing is any completed or ongoing clinical trial testing a specific maintenance or prevention regimen in RTPS patients. There are no prospective data on which epigenetic therapy, if any, might delay recurrence or improve survival. Patient numbers are very small, and no stratification by SMARCB1 versus SMARCA4 genotype has been attempted in a treatment study. Funding for multi-centre trials in this ultra-rare syndrome remains scarce.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neuro-Oncology Advances · 2024 · 3 citations · open access
Approaches for prevention of tumors in patients with rhabdoid tumor predisposition syndrome
AbstractAbstract Patients with rhabdoid tumor predisposition syndrome (RTPS) harbor germline alterations in the epigenetic regulator genes SMARCB1 or SMARCA4. Patients usually present with atypical teratoid/rhabdoid tumor (AT/RT) of the brain or malignant rhabdoid tumor (MRT) arising outside the central nervous system. Intensive treatment can lead to remissions, however tumors frequently recur or synchronous or metachronous tumors appear. A maintenance or secondary prevention regimen may prevent these aggressive tumors. Potential maintenance regimens may include low-dose traditional chemotherapy or different epigenetic therapies designed to target the epigenetic imbalance that drives RTs. We here review several potential maintenance regimens that may be useful in RTPS.
Journal of Korean Neurosurgical Society · 2025 · 3 citations · open access
Rhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management
AbstractRhabdoid tumor predisposition syndrome (RTPS) is a rare autosomal dominant disorder characterized by an increased risk of developing malignant rhabdoid tumors in early childhood. This syndrome is primarily caused by germline heterozygous loss-of-function pathogenic variants in the SMARCB1 gene (RTPS1) and rarely in the SMARCA4 gene (RTPS2). RTPS is characterized by the development of atypical teratoid rhabdoid tumors of the central nervous system, malignant rhabdoid tumors of the kidney, and/or extrarenal extracranial rhabdoid tumors. The syndrome demonstrates high penetrance, with most tumors developing before age 3 years, and carries a poor prognosis despite intensive multimodal therapy. Early diagnosis through genetic testing, implementation of surveillance protocols, and aggressive treatment approaches are crucial for improving outcomes. This review comprehensively examines the genetic basis, clinical manifestations, surveillance strategies, and current management approaches for RTPS, with particular emphasis on emerging therapeutic options and the importance of multidisciplinary care.
Boletín Médico del Hospital Infantil de México · 2023 · 2 citations · open access
Extrarenal rhabdoid tumor of anterior mediastinal location
AbstractBACKGROUND: Rhabdoid tumors are malignant neoplasms of low prevalence, aggressive behavior, and high mortality. They were initially described as renal tumors, although tumors with the same histopathological and immunohistochemical characteristics have been discovered in other locations, mainly in the central nervous system. Few cases of mediastinal location have been reported internationally. This work aimed to describe the case of a mediastinal rhabdoid tumor. CASE REPORT: We describe the case of an 8-month-old male patient admitted to the pediatric department with dysphonia and laryngeal stridor progressing to severe respiratory distress. Contrast-enhanced computed tomography of the thorax showed a large mass with homogeneous soft tissue density, and smooth and well-defined borders, with suspicion of malignant neoplasm. Due to the oncological emergency compressing the airway, empirical chemotherapy was initiated. Subsequently, the patient underwent incomplete tumor resection due to its invasive nature. The pathology report showed morphology compatible with a rhabdoid tumor, which immunohistochemical and genetic studies corroborated. Chemotherapy and radiotherapy to the mediastinum were administered. However, the patient died three months after the initial treatment due to the aggressive behavior of the tumor. CONCLUSIONS: Rhabdoid tumors are aggressive and malignant entities difficult to control and have poor survival. Early diagnosis and aggressive treatment are required, although the 5-year survival does not exceed 40%. It is necessary to analyze and report more similar cases to establish specific treatment guidelines.
IP International Journal of Ocular Oncology and Oculoplasty · 2023 · 0 citations · open access
Primary atypical rhabdoid orbital tumor: An entity with aggressive behavior
AbstractMalignant rhabdoid tumors are rare, poorly differentiated tumors which usually affect children under the age of three. These tumors have a predilection for the kidney, central nervous system and soft tissue. The definition classically relies on a characteristic morphology and the inactivation of the hSNF5/INI1 tumor suppressor gene. The diagnosis is based on radiological explorations, as well as anatomopathological and immuno-histochemical studies. Whatever the location of the tumor, the therapeutic protocol is only decided after multidisciplinary consultation meeting, while resorting to a triad of chemotherapy, surgery and radiotherapy. The prognosis remains poor and the survival rate is below 30%. We report a rare case of retro-orbital malignant rhabdoid tumor of a new born girl.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
