Rare & Orphan Lab · DeCure for X

DeCure for PEComa

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for PEComa — screening already-approved drugs against its 19-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module19 genesLead labRare & Orphan
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Rare & OrphanDOID:2643$DeCureRare

The disease map

Disease modulePEComa maps to a 19-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 pecoma 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

lysine demethylase 6A (KDM6A)KDM6A 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 e7zdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 6FUL · 1.649 Å · ligand 1-methyl-5-oxidanyl-4-oxidanylidene-pyridine-2-carboxylic acid (E7Z). Experimental structure, not a prediction.

What the evidence adds up to

A 2016 case report of hepatic PEComa in a 32-year-old woman describes surgical resection with no evidence of recurrence at 9 months follow-up. The authors note that only about 30 cases of hepatic PEComa had been reported in English worldwide at that time, that the natural history of the tumour is uncertain, and that no consensus treatment protocol exists. They state that longer clinical follow-up is necessary in all patients.

A 2012 report of malignant mesenteric PEComa in a 59-year-old man describes segmental resection of the jejunum and tumour resection followed by concurrent chemoradiotherapy. The authors conclude that no effective treatment for malignant PEComa has been established beyond surgery, and that the adjuvant therapy they used effectively controlled disease progression and prevented local recurrence in that single case.

A 2018 report describes a 42-year-old woman with retroperitoneal PEComa initially diagnosed as benign who developed intra-abdominal recurrence and pulmonary lymphangioleiomyomatosis two years after surgery. Treatment with everolimus was started, and the disease stabilised at the third month according to RECIST criteria. The authors state that PEComas have unpredictable behaviour and require long-term follow-up even after a correct diagnosis of benign disease.

A 2022 paediatric case describes a 12-year-old girl with colonic PEComa presenting as intussusception and anal incarceration. The tumour was removed surgically, and postoperative recovery was good at 4 months. The authors state that diagnosis depends on pathology and immunohistochemistry, and that radical resection is the preferred treatment. Across all reports, sample sizes are single patients, follow-up is short (4 to 9 months in two cases), and no controlled trial data exist. What is missing is any prospective trial, any systematic collection of treatment outcomes beyond case reports, any validated prognostic stratification, and any funding mechanism to assemble the multi-centre registry that would be needed to move beyond single anecdotes.

Evidence

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

Medicine · 2016 · 18 citations · open access

Hepatic perivascular epithelioid cell tumor

AbstractRATIONAL: Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal neoplasm which expresses both myogenic and melanocytic markers. PEComas are found in a variety locations in the body, but up to now only approximately 30 cases about hepatic perivascular epithelioid cell tumor are reported in English language worldwide. PATIENT CONCERNS: A 32-year-old woman was admitted in our hospital with intermittent right upper quadrant pain for 1 month and recent (1 day) progressive deterioration. DIAGNOSES: Based on the results of the laboratory examinations and the findings of the computed tomography, the diagnosis of hepatic hamartoma or the hepatocecullar carcinoma with hemorrhage was made. INTERVENTIONS: The patient underwent a segmentectomy of the liver, and the finally diagnosis of hepatic PEComa was made with immunohistochemical confirmation with HMB-45 and SMA. OUTCOMES: There is no clinical or radiographic evidence of recurrence 9 months after surgery. LESSONS: This kind of tumor is extremely rare and the natural history of PEComa is uncertain, as the treatment protocol for hepatic PEComa has not reached a consensus. But the main treatment of the disease may be surgical resection. Only after long term follow-up can we know whether the tumor is benign or malignant. It appears that longer clinical follow-up is necessary in all patients with hepatic PEComas.

https://doi.org/10.1097/md.0000000000005572
Onkologie · 2012 · 15 citations

Malignant Perivascular Epithelioid Cell Tumor of the Mesentery: A Case Report and Literature Review

AbstractBACKGROUND: Perivascular epithelioid cell tumors (PEComas) are very rare mesenchymal neoplasms, and have been found in various organs such as the liver, kidney, falciform ligament, uterus, uterine cervix, and both the small and large bowel. However, only 3 cases of mesenteric PEComa have been described in the literature so far. The treatment and prognosis of malignant mesenteric PEComas are discussed. CASE REPORT: We report the case of a 59-year-old man diagnosed with PEComa. He underwent segmental resection of the jejunum and tumor resection. Malignant mesenteric PEComa was confirmed on the basis of clinicopathological features. Tumor resection was followed by concurrent chemoradiotherapy. CONCLUSION: Besides surgery, no effective treatment for malignant PEComa has been established thus far because of the rarity of this tumor. Here, we report our experience of treating a malignant mesenteric PEComa using surgery and subsequent adjuvant therapy, which effectively controlled disease progression and prevented local recurrence.

https://doi.org/10.1159/000336826
Sao Paulo Medical Journal · 2018 · 8 citations · open access

Recurrence of retroperitoneal localized perivascular epithelioid cell tumor two years after initial diagnosis: case report

AbstractCONTEXT: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors. Adjuvant radiotherapy and/or chemotherapy are administered according to the patient's clinical characteristics. CASE REPORT: A 42-year-old female patient was operated to treat a retroperitoneal mass. The diagnosis was established as PEComa with benign behavior. Two years after the diagnosis, chest and abdominal computed tomography scans showed intra-abdominal recurrence and lymphangioleiomyomatosis in the lung. Treatment with everolimus was started. The disease stabilized in the third month of treatment, according to the response evaluation criteria in solid tumors. CONCLUSION: PEComas are tumors with unpredictable behavior. Therefore, these patients require long-term follow-up, even in cases of correct diagnosis and benign PEComa.

https://doi.org/10.1590/1516-3180.2017.0120050717
World Journal of Gastrointestinal Oncology · 2022 · 5 citations · open access

Pediatric case of colonic perivascular epithelioid cell tumor complicated with intussusception and anal incarceration: A case report

AbstractBACKGROUND: Perivascular epithelioid cell tumor (PEComa) represents a group of rare mesenchymal tumors. PEComa can occur in many organs but is rare in the colorectum, especially in children. Furthermore, PEComa is a rare cause of intussusception, the telescoping of a segment of the gastrointestinal tract into an adjacent one. We describe a rare case of pediatric PEComa complicated with intussusception and anal incarceration, and conduct a review of the current literature. CASE SUMMARY: A 12-year-old girl presented with abdominal pain and abdominal ultrasound suggested intussusception. Endoscopic direct-vision intussusception treatment and colonoscopy was performed. A spherical tumor was discovered in the transverse colon and removed by surgery. Postoperative pathologic analyses revealed that the tumor volume was 5.0 cm × 4.5 cm × 3.0 cm and the tumor tissue was located in the submucosa of the colon, arranged in an alveolar pattern. The cell morphology was regular, no neoplastic necrosis was observed, and nuclear fission was rare. The immunohistochemical staining results were as follows: Human melanoma black 45 (HMB 45) (+), cluster of differentiation 31 (CD31) (+), cytokeratin (-), melanoma-associated antigen recognized by T cells (-), smooth muscle actin (-), molleya (-), desmin (-), S-100 (-), CD117 (-), and Ki67 (positive rate in hot spot < 5%). Combined with the results of pathology and immunohistochemistry, we diagnosed the tumor as PEComa. Postoperative recovery was good at the 4 mo follow-up. CONCLUSION: The diagnosis of PEComa mainly depends on pathology and immunohistochemistry. Radical resection is the preferred treatment method.

https://doi.org/10.4251/wjgo.v14.i7.1348

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.