Cancer Lab · DeCure for X

DeCure for Rhabdomyosarcoma with mixed embryonal and alveolar features

DeCure's autonomous Cancer AI scientist is researching a drug-repurposing hypothesis for rhabdomyosarcoma with mixed embryonal and alveolar features — 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 module2 genesLead labCancer
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CancerDOID:4065$DeCureCancer

The disease map

Disease moduleRhabdomyosarcoma with mixed embryonal and alveolar features 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 rhabdomyosarcoma with mixed embryonal and alveolar features 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

neurotrophic receptor tyrosine kinase 3 (NTRK3)NTRK3 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 4-aminophenyldrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 6KZD · 1.708 Å · ligand 3-[2-[6-(4-aminophenyl)imidazo[1,2-a]pyrazin-3-yl]ethynyl]-2-methyl-~{N}-[3-(4-methylpiperazin-1-yl)-5-propan-2-yl-phenyl]benzamide (DZ6). Experimental structure, not a prediction.

What the evidence adds up to

An 11-month-old male with a rhabdomyosarcoma of mixed embryonal and alveolar histology carried a single structural chromosomal abnormality, t(1;13)(p36;q14), which may define a subset of patients with a variant of the more common t(2;13) translocation seen in alveolar rhabdomyosarcoma. Two patients with the solid variant pattern of alveolar rhabdomyosarcoma, initially classified as embryonal, both had the t(2;13) translocation typical of alveolar disease. Both died of metastases despite aggressive surgery and adjuvant therapy. In a separate report, chromosome 2 abnormalities were found in one embryonal and one alveolar rhabdomyosarcoma, but no survival data were given.

A 2022 case report describes a 3-year-old child with alveolar rhabdomyosarcoma of the left nasal cavity, but provides no cytogenetic results or outcome. A 2019 review notes that approximately 20% of alveolar rhabdomyosarcomas lack PAX-FOXO1 translocations and behave more like embryonal cases, which have a better prognosis. Histopathology remains the basis of diagnosis, but cytogenetic and molecular features are increasingly used to guide prognosis and treatment.

Across these abstracts, no drug treatment is tested or recommended. The mixed embryonal-alveolar histology is rare, and the prognostic significance of the t(1;13) variant is unknown. The solid variant alveolar tumours with t(2;13) were uniformly fatal. What is missing is a prospective trial that stratifies patients by fusion status and histologic pattern, and sufficient funding to collect cytogenetic and outcome data on the small number of mixed-histology cases.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Genes Chromosomes and Cancer · 1991 · 84 citations

Chromosomal Translocation t(1;13)(p36;q14) in a Case of Rhabdomyosarcoma

AbstractCytogenetic studies of a rhabdomyosarcoma of mixed embryonal and alveolar histology in an 11-month-old male revealed a single structural abnormality, t(1;13)(p36;q14). This abnormality may define a subset of patients with a variant of the t(2;13)(q35;q14) translocation frequently seen in alveolar rhabdomyosarcoma.

https://doi.org/10.1002/gcc.2870030612
The American Journal of Surgical Pathology · 1994 · 61 citations

Solid Alveolar Rhabdomyosarcomas with the t(2;13)

AbstractTwo patients having rhabdomyosarcomas with the recently described "solid variant" pattern of alveolar rhabdomyosarcoma are reported. Both tumors had aggressive cytologic features with monotonous sheets of round nuclei, but without fibrous septa, and both had been initially classified as embryonal rhabdomyosarcomas. Cytogenetic analyses of tumor explants from both cases revealed the t(2;13) chromosomal aberration typical of alveolar rhabdomyosarcoma. Both patients died of metastases, despite aggressive surgical and adjuvant therapy. This report represents the first karyotypic analyses of solid alveolar rhabdomyosarcomas and supports the inclusion of these tumors in the alveolar category despite the lack of fibrous septa.

https://doi.org/10.1097/00000478-199405000-00006
Seminars in Ophthalmology · 2019 · 19 citations

A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma

AbstractRhabdomyosarcoma (RMS) is the most common sarcoma of childhood and adolescence. Approximately 10% arise in the orbit, where the embryonal type is most common variant. The alveolar variant is less frequent and has a worse prognosis. Cytogenetic studies have revealed that most alveolar rhabdomyosarcomas have translocations involving the PAX and the FOX01 genes, giving rise to fusion genes that contribute to lack of differentiation and proliferation of the tumor cells. However, approximately 20% of alveolar rhabdomyosarcomas lack translocations and have been found to behave more similarly to embryonal cases. Histopathology remains the basis of diagnosis, but cytogenetic features and molecular signatures are becoming part of the routine analysis of RMS, since they determine not only prognosis, but also management and treatment regimens. A comprehensive review of the recent published literature in relation to orbital rhabdomyosarcomas and their cytogenetic features as well as clinical and therapeutic implications will be discussed.

https://doi.org/10.1080/08820538.2019.1620802
Pediatric Hematology and Oncology · 1989 · 7 citations

Chromosome 2 Abnormalities (+ Der 2) in Two Cases of Childhood Rhabdomyosarcoma

AbstractChromosome analysis was performed in two cases of rhabdomyosarcoma (RMS): one embryonal RMS and one alveolar RMS. Analysis showed number and structural abnormalities of chromosome 2. The relationship between these findings and published reports of karyotypes from RMS is discussed.

https://doi.org/10.3109/08880018909034285
Journal of Head and Neck Surgery · 2022 · 0 citations · open access

Sinonasal Rhabdomyosarcoma in a Child: Case Report and Review of the Literature

AbstractRhabdomyosarcoma is a malignant soft-tissue neoplasm of skeletal muscle origin, which predominantly affects the young population. Embryonal and alveolar are the most common histological subtypes of rhabdomyosarcoma. We present a case of a 3-year-old child with alveolar rhabdomyosarcoma arising from the left nasal cavity.

https://doi.org/10.36959/605/569

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.