DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Muir-Torre syndrome — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleMuir-Torre syndrome maps to a 4-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 muir-torre syndrome 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
mutS homolog 2 (MSH2) — MSH2 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 adpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8RB1 · 2.085 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.
What the evidence adds up to
Muir-Torre syndrome is a rare autosomal dominant condition defined by the presence of at least one sebaceous neoplasm (adenoma, epithelioma, or carcinoma), at least one visceral malignancy, and a germline mutation in one of four DNA mismatch repair genes: MSH2, MSH6, PMS2, or MLH1. The syndrome may present with periocular skin tumours, and the skin lesions are considered cutaneous markers that can aid early detection of internal malignancy. Two cases of ophthalmic presentation have been reported.
A 2024 case report describes two iatrogenically immunosuppressed men with Muir-Torre syndrome features. The authors note that immunosuppression—whether from solid organ transplant, HIV infection, or chronic disease treatment—can unmask the syndrome or promote sebaceous tumours. In kidney transplant recipients, who receive more immunosuppressive agents, these neoplasms occur more frequently and earlier than in liver recipients. Replacing cyclosporine or tacrolimus with sirolimus or everolimus decreased the development of sebaceous neoplasms. The authors suggest that germline testing for mismatch repair gene mutations should be performed routinely in all patients—immunocompetent or immunosuppressed—who develop a Muir-Torre syndrome-associated sebaceous neoplasm. They also mention that specific anti-cancer vaccines or checkpoint blockade immunotherapy may merit exploration, but no trial data are provided.
A 2022 case report describes a 58-year-old man with multiple skin lesions and colon cancer over several years; the causative mutation was identified by Sanger sequencing. A 2020 report emphasises genetic heterogeneity in the syndrome. The earliest abstract, from 1985, simply notes the association of skin tumours and systemic malignancies.
No controlled trials, no survival data, and no response rates for any treatment are reported in any of these abstracts. What is missing is prospective evidence on whether altering immunosuppression or using immunotherapy changes outcomes for visceral cancers in Muir-Torre syndrome, and whether routine germline testing leads to earlier detection of internal malignancy or improved survival.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Ophthalmic Plastic and Reconstructive Surgery · 2003 · 11 citations
Ophthalmic Presentation of the Muir Torre Syndrome
AbstractIn Brief The Muir Torre syndrome (MTS) is a rare autosomal dominant condition characterized by the association of certain skin tumors and systemic malignancies. We report the ophthalmic presentation of this syndrome in two cases. The Muir Torre syndrome may present with certain periocular skin tumors; the ophthalmologist should be aware of the possible systemic associations of this rare autosomal dominant condition.
Patients with a new-onset cutaneous sebaceous neoplasm following immunosuppression should be evaluated for Muir-Torre syndrome with germline mismatch repair gene mutation analysis: case reports
AbstractPatients with Muir-Torre syndrome may have a systemic malignancy and a sebaceous neoplasm such as an adenoma, epithelioma, and/or carcinoma. The syndrome usually results from a germline mutation in one or more mismatch repair genes. Iatrogenic or acquired immunosuppression can promote the appearance of sebaceous tumors, either as an isolated event or as a feature of Muir-Torre syndrome and may unmask individuals genetically predisposed to the syndrome. Two iatrogenically immunosuppressed men with Muir-Torre syndrome features are described. Similar to these immunocompromised men, Muir-Torre syndrome-associated sebaceous neoplasms have occurred in solid organ transplant recipients, human immunodeficiency virus-infected individuals, and patients with chronic diseases who are treated with immunosuppressive agents. Muir-Torre syndrome-associated sebaceous neoplasms occur more frequently and earlier in kidney recipients, who are receiving more post-transplant immunosuppressive agents, than in liver recipients. The development of sebaceous neoplasms is decreased by replacing cyclosporine or tacrolimus with sirolimus or everolimus. Specific anti-cancer vaccines or checkpoint blockade immunotherapy may merit exploration for immune-interception of Muir-Torre syndrome-associated sebaceous neoplasms and syndrome-related visceral cancers. We suggest germline testing for genomic aberrations of mismatch repair genes should routinely be performed in all patients-both immunocompetent and immunosuppressed-who develop a Muir-Torre syndrome-associated sebaceous neoplasm.
JAAD Case Reports · 2020 · 3 citations · open access
Genetic heterogeneity in a patient with Muir-Torre syndrome
AbstractMuir-Torre syndrome is an autosomal-dominant disorder caused by germline mutations in 1 of the 4 key DNA mismatch repair (MMR) genes, MSH2, MSH6, PMS2, and MLH1. Patients with Muir-Torre syndrome present with skin lesions, which play an important role in early detection of the disease and are considered cutaneous markers. The diagnostic criteria for Muir-Torre syndrome are at least 1 skin neoplasm with sebaceous differentiation, at least 1 visceral malignancy, and germline mutation of the MMR genes.
Clinical Case Reports · 2022 · 1 citations · open access
Multiple sebaceous tumors in a 58‐year‐old man with colorectal cancer
AbstractThe Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of sebaceous neoplasia and internal malignancies and caused by mutations in the mismatch repair gene. We describe the case of 58-year-old man who, over the course of several years, had multiple skin lesions and colon cancer. The syndrome was diagnosed using Sanger sequencing, which allowed us to find the causative mutation.
British Journal of Dermatology · 1985 · 0 citations
(12) Muir-Torre syndrome
AbstractJournal Article (12) Muir‐Torre syndrome Get access I.H. Coulson, I.H. Coulson Royal Marsden Hospital, London SW3 Search for other works by this author on: Oxford Academic Google Scholar K.V. Sanderson K.V. Sanderson Royal Marsden Hospital, London SW3 Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 113, Issue s29, 1 July 1985, Pages 56–57, https://doi.org/10.1111/j.1365-2133.1985.tb13027.x Published: 01 July 1985
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.
