DeCure for Rhabdoid tumor predisposition syndrome 2
DeCure's autonomous Cancer AI scientist is researching a drug-repurposing hypothesis for rhabdoid tumor predisposition syndrome 2 — screening already-approved drugs against its 2-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 2 maps to a 2-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 2 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
Rhabdoid tumour predisposition syndrome (RTPS) is defined by germline alterations in SMARCB1 or SMARCA4, and patients typically present with atypical teratoid/rhabdoid tumour of the brain or malignant rhabdoid tumour outside the central nervous system. A 2013 report described four children with truncating heterozygous SMARCB1 germline mutations who had a favourable outcome after multi-modality treatment, three according to EU-RHAB registry recommendations and two without radiotherapy; mean event-free survival was 7 years. That same year, a review noted that prognosis had improved significantly within the preceding decade but that at least 50% of patients still relapse and subsequently almost inevitably die from the disease. A 2023 case report of an 8-month-old with an anterior mediastinal rhabdoid tumour described death three months after initial treatment despite chemotherapy, incomplete resection, and radiotherapy, and stated that 5-year survival does not exceed 40%.
A 2022 case report of a 19-year-old man with metastatic malignant extrarenal extracranial rhabdoid tumour reported death within a year of diagnosis and stated that no definitive chemotherapy regimen has been identified for this malignancy. The same report noted that management remains a therapeutic challenge despite identification of a candidate drug target. A 2024 review proposed that maintenance or secondary prevention regimens — including low-dose traditional chemotherapy or epigenetic therapies targeting the epigenetic imbalance that drives rhabdoid tumours — might prevent recurrence or metachronous tumours, but no clinical trial data for such regimens in RTPS were presented.
The evidence is limited to small case series and single-patient reports. No randomised trial has tested any maintenance or targeted therapy specifically in RTPS. What is missing is a prospective trial large enough to stratify patients by germline genotype, tumour site, and age, and the funding to conduct it.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Pediatric Blood & Cancer · 2013 · 50 citations
Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS)
AbstractRhabdoid tumor predisposition syndrome is usually associated with shorter survival in patients with malignant rhabdoid tumors regardless of anatomical origin. Here we present four children harboring truncating heterozygous SMARCB1/INI1 germline mutations with favorable outcome. All four patients received multi-modality treatment, three according to therapeutic recommendations by the EU-RHAB registry, two without radiotherapy, and mean event-free survival accounts for 7 years. In conclusion, intensive treatment with curative intent is justified for children with rhabdoid tumors even if an underlying rhabdoid predisposition syndrome is demonstrated.
Pediatric Hematology and Oncology · 2013 · 35 citations
Rhabdoid Tumors: Clinical Approaches and Molecular Targets for Innovative Therapy
AbstractRhabdoid tumors are rare but highly aggressive tumors with a predilection for infants and young children. The majority of these tumors harbor biallelic mutations in SMARCB1/INI1/hSNF5. Rather rare cases with mutations in other SWI/SNF core members such as BRG1 are on record. Rhabdoid tumors have only recently been registered and treated according to specifically designed treatment recommendations and in the framework of clinical trials. Within the last decade, prognosis has improved significantly but at least 50% of patients still relapse and subsequently almost inevitably succumb to their disease. This review summarizes past and current clinical approaches and presents an overview of the rationales for targeted therapy with potential for future clinical treatment trials for rhabdoid tumors.
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.
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.
Zenodo (CERN European Organization for Nuclear Research) · 2022 · 0 citations · open access
Soft Tissue Rhabdoid Tumour in a 19 Year Old African Male: A Case Report
AbstractRhabdoid Tumours (RT) is rare, rapidly progressive neoplasms that typically occur in childhood; are often metastatic at presentation and are known for their high mortality. These malignancies are even rarer in adults, occur at a variety of anatomic locations and are classified into three categories. A 19 year old male with no pre-existing illnesses or family history of malignancy, presented with metastatic malignant extrarenal, extracranial rhabdoid tumour (MERT) and after a short period of investigation and therapy demised within a year of his diagnosis. A definitive chemotherapy regimen is yet to be identified for this malignancy and despite the identification of a candidate drug target; the management of rhabdoid tumours remains a therapeutic challenge. Further study is required to underpin the molecular biology of this malignancy and with better understanding, targeted therapy will be discovered and applied; particularly for irresectable and metastatic disease.
Zenodo (CERN European Organization for Nuclear Research) · 2022 · 0 citations · open access
Soft Tissue Rhabdoid Tumour in a 19 Year Old African Male: A Case Report
AbstractRhabdoid Tumours (RT) is rare, rapidly progressive neoplasms that typically occur in childhood; are often metastatic at presentation and are known for their high mortality. These malignancies are even rarer in adults, occur at a variety of anatomic locations and are classified into three categories. A 19 year old male with no pre-existing illnesses or family history of malignancy, presented with metastatic malignant extrarenal, extracranial rhabdoid tumour (MERT) and after a short period of investigation and therapy demised within a year of his diagnosis. A definitive chemotherapy regimen is yet to be identified for this malignancy and despite the identification of a candidate drug target; the management of rhabdoid tumours remains a therapeutic challenge. Further study is required to underpin the molecular biology of this malignancy and with better understanding, targeted therapy will be discovered and applied; particularly for irresectable and metastatic disease.
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.
