Rare & Orphan Lab · DeCure for X

DeCure for Peripheral nerve schwannoma

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for peripheral nerve schwannoma — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module3 genesLead labRare & Orphan
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Rare & OrphanDOID:956$DeCureRare

The disease map

Disease modulePeripheral nerve schwannoma maps to a 3-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 peripheral nerve schwannoma 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

protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A)PRKAR1A 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 pcgdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 5KJZ · 1.347 Å · ligand CYCLIC GUANOSINE MONOPHOSPHATE (PCG). Experimental structure, not a prediction.

What the evidence adds up to

Peripheral nerve schwannomas occur in several contexts. In neurofibromatosis type 2, a systematic investigation of 15 patients found electrophysiological evidence of neuropathy in 10, mostly of the axonal type. The authors hypothesise that this neuropathy results from compression by multiple tumourlets along the length of peripheral nerves, or from local effects of endoneurial pathological cells on adjacent nerve fibres, rather than from discrete tumour masses.

Surgical excision is the standard treatment for symptomatic schwannomas. A retrospective review of 11 patients with extremity schwannomas reported no recurrences over a mean follow-up of 54.6 months; new motor and sensory deficits occurred in only one patient. Another retrospective study of 12 head and neck schwannomas, diagnosed between 2021 and 2023, reported no malignancy or recurrence during follow-up, with nerve function preserved through various surgical approaches. A separate case report describes schwannomatosis affecting the spinal accessory nerve, with a genetic finding of an in-frame insertion at codon p.R177 of the Sox 10 gene and no identifiable alterations in NF1, NF2, LZTR1, or SMARCB1.

A 2007 review notes that the Schwann cell is the primary cell type in both neurofibroma and schwannoma, and that laboratory discoveries have clarified molecular mechanisms underlying benign peripheral nerve tumours and their progression to malignancy. The review discusses potential therapeutic avenues but does not report any drug tested in patients. A 2008 management article emphasises early recognition and expert surgical treatment to minimise post-operative neurological deficits.

What is still missing are any clinical trials of drug therapies for peripheral nerve schwannoma, whether sporadic or syndromic. No pharmacological agent has been tested in a controlled setting for this condition. The molecular understanding described in the 2007 review has not yet been translated into a clinical candidate. Funding for preclinical drug development, trial design that accounts for the rarity and heterogeneity of these tumours, and patient stratification by genetic subtype (NF2, schwannomatosis, sporadic) remain absent.

Evidence

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

Brain · 2002 · 130 citations · open access

Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2

AbstractNeurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder characterized by the occurrence of bilateral vestibular schwannomas, various brain and spinal tumours as well as peripheral nerve tumours, cutaneous tumours and juvenile posterior lenticular opacity. NF2 is caused by mutations in both alleles of a tumour suppressor gene coding for a protein called schwannomin or merlin. It is suggested that the development of NF2 tumours is caused by complete inactivation of the merlin/schwannomin gene. Interestingly, in a NF2 mouse model, peripheral nerve pathology was more frequently described than schwannomas. However, review of the literature shows that patients suffering from NF2 seldom have unexplained clinical features of peripheral nerve lesion unrelated to tumour masses. Single case reports describe sural nerve biopsies, which histologically show onion-bulb-like formations, seemingly originating from Schwann cells. We have conducted a systematic investigation to determine the occurrence and aetiology of peripheral nerve involvement in NF2 patients. We investigated 15 patients with definite NF2 and in 10 of these found electrophysiological evidence of neuropathy. In this study we present the classification of neuropathy, correlation to clinical findings, and histological findings of a sural nerve biopsy. We conclude that peripheral neuropathy, mostly of axonal type, is a common clinical finding in NF2. We hypothesize that the aetiology of this frequent peripheral neuropathy syndrome in NF2 is caused by compression effects of multiple tumourlets, originating along the length of the peripheral nerves on adjacent nerve fibres, by local influences of the endoneurial pathological cells on adjacent nerve fibres and/or the inability of these cells to properly adhere to, or ensheath, the axon.

https://doi.org/10.1093/brain/awf115
Acta Orthopaedica et Traumatologica Turcica · 2015 · 5 citations · open access

Surgical excision of peripheral nerve schwannomas: analysis of 11 patients

AbstractAbstract Objective: Benign schwannomas are the most common tumour of the peripheral nerves. Symptomatic schwannomas are treated by surgical excision, but new neurological deficits may develop. We performeda retrospective review of cases of schwannomas in the extremities and reviewed the relevant literature. Methods: We retrospectively reviewed the demographic characteristics of 11 patients with schwannomas treated at our institution. We also reviewed the clinical characteristics and postoperative results of these cases, determined the possible risk factors influencing the development of complications and compared the risk factors with those reported in the literature. Results: There were five males and six females with a mean age of 37.6 (range: 17–62) years. The mean postoperative follow-up was 54.6 (range: 26–88) months. Three tumours were located in the forearm and the rest were localized in the lower extremity. No recurrences were observed during the follow-up period. New motor and sensory deficits were observed in only one patient. Conclusion: Schwannomas in the extremities can be excised with acceptable risk of neurological deficits. Meticulous dissection is required during surgery. Özet Amaç: Benign shcwannom periferik sinirlerin en yaygın tümörüdür. Semptomatik schwannomun tedavisi cerrahi eksizyondur. Cerrahlar yeni nörolojik defisitlerin gelişme olasılığına hazırlıklı olmalıdır. Biz literatürle birlikte ekstremite schwannomlarını içeren olguların geriye dönük bir analizi yaptık. Çalışma planı: Hastanemizde tedavi edilen 11 schawannomlu hastanın verilerini geriye dönük olarak inceledik. Klinik özellikleri ve ameliyat sonrası sonuçları gözden geçirdik ve komplikasyonların gelişimini etkileyen olası risk faktörlerini belirledik ve bunları literatürle karşılaştırdık. Bulgular: Ortalama yaşın 37.6 (17–62) olduğu beş erkek ve altı kadın vardı. Ameliyat sonrası ortalama takip süresi 54.6 (26–88) aydı. Önkolda üç tümör tespit edildi ve diğer tümörler bacak alt kısmındaydı. Takip periyodunda nüks gözlenmedi. Bir hastada yeni motor ve duysal defisit gözlendi. Çıkarımlar: Ekstremite schwannomaları kabul edilebilir nörolojik defisit riski ile eksize edilebilir. Cerrahi sırasında titiz bir disseksiyon gereklidir.

https://doi.org/10.3944/aott.2015.14.0119
Journal of Brachial Plexus and Peripheral Nerve Injury · 2019 · 5 citations · open access

Schwannomatosis of the Spinal Accessory Nerve: A Case Report

AbstractSchwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent. Here, the authors present a rare case of schwannomatosis affecting the left spinal accessory nerve. Upon genetic screening, an in-frame insertion at codon p.R177 of the Sox 10 gene was observed. There were no identifiable alterations in NF1, NF2, LZTR1, and SMARCB1. This case demonstrates a rare clinical presentation of schwannomatosis in addition to a genetic aberration that has not been previously reported in this disease context.

https://doi.org/10.1055/s-0039-1685457
Neurosurgical FOCUS · 2007 · 4 citations · open access

Experimental therapeutic approaches to peripheral nerve tumors

AbstractDiscovery that the Schwann cell is the primary cell type responsible for both the neurofibroma as well as the schwannoma has proven to represent a crucial milestone in understanding the pathogenesis of peripheral nerve tumor development. This information and related findings have served as a nidus for research aimed at more fully characterizing this family of conditions. Recent discoveries in the laboratory have clarified an understanding of the molecular mechanisms underlying the pathogenesis of benign peripheral nerve tumors. Similarly, the mechanisms whereby idiopathic and syndromic (NF1- and NF2-associated) nerve sheath tumors progress to malignancy are being elucidated. This detailed understanding of the molecular pathogenesis of peripheral nerve tumors provides the information necessary to create a new generation of therapies tailored specifically to the prevention, cessation, or reversal of pathological conditions at the fundamental level of dysfunction. The authors review the data that have helped to elucidate the molecular pathogenesis of this category of conditions, explore the current progress toward exploitation of these findings, and discuss potential therapeutic avenues for future research.

https://doi.org/10.3171/foc.2007.22.6.3
Medical Journal of Indonesia · 2008 · 2 citations · open access

Surgical management of benign peripheral nerve tumors

AbstractPeripheral nerve tumors are rare lesions that can arise anywhere in the body and hence have a myriad of wide differential diagnosis. They commonly present as a non-specific mass which is diagnosed as a peripheral nerve tumor at surgery. While these tumors may initially be referred to a wide variety of surgeons, early recognition of the nature of the lesion and appropriate surgical treatment by an expert peripheral nerve surgeon is essential in order to minimize post-operative neurological deficits. The objective of this article is to provide a general management scheme for the most common setting of benign peripheral nerve tumors. (Med J Indones 2008; 17: 163-8)

https://doi.org/10.13181/mji.v17i3.318
Digital Journal of Clinical Medicine · 2024 · 1 citations · open access

Management Of Extracranial Schwannomas In Head And Neck Region - An Observational Study

AbstractABSTRACT Background: Schwannomas, benign tumors arising from Schwann cells, often manifest as slow-growing lesions in the peripheral nerve sheath. While typically asymptomatic, they can affect cranial and peripheral nerves. Surgical excision is the primary treatment, but preserving nerve function poses challenges. Methods: This retrospective study analyzed 12 cases of benign head and neck schwannomas diagnosed at Department of ENT, SCB Medical College, Orissa, India between 2021 and 2023. Data encompassed patient demographics, tumor characteristics, diagnostic methods, surgical approaches, histopathology, and follow-up outcomes. Pre-operative investigations included Fine Needle Aspiration Cytology, Ultrasonography, and imaging. Results: Predominantly middle-aged and male patients presented with painless swelling, commonly in the cervical region, tongue, nose, and hard palate. Mean symptom duration was 8.5 months. Imaging depicted characteristic features, guiding surgical planning. Various approaches ensured complete excision, preserving nerve function. Histopathology confirmed the diagnosis, with positive S-100 staining. No cases showed malignancy or recurrence during follow-up. Conclusions: Head and neck schwannomas, though rare, present diagnostic and management challenges. Pre-operative diagnosis relies on imaging and biopsy, with surgical excision essential for treatment. Nerve preservation minimizes post-operative complications. Despite diagnostic difficulties, maintaining a high index of suspicion for schwannomas in patients with painless, slow-growing swellings is crucial.

https://doi.org/10.55691/2582-3868.1156
International Journal of Research in Medical Sciences · 2019 · 1 citations · open access

Analysis of surgical outcome and review of literature of schwannomas arising from the extremities

AbstractBackground: Schwannoma is a benign peripheral nerve sheath tumour derived from Schwann cells. Also known as Neurilemoma, it can affect any nerve in the body. They usually present as a painless swelling or paresthesia over the sensory distribution of the affected nerve. Although it is classically described that schwannomas are well encapsulated and can be completely enucleated during excision, many of them have fascicular involvement and could not be completely shelled out. The aim of this work is to present our experience in operative management of schwannomas located in extremities.Methods: Authors conducted a retrospective review for 18 adult patients with schwannoma, from June 2012 to June 2018. There were 10 men and 8 women, ranging from 20 to 68 years of age, with a mean age of 46 years old. All patients had excision done for the tumour and histopathological examination confirmed schwannoma. All patients were preoperatively evaluated both clinically and radiologically. FNAC was also done to confirm the origin of the swelling.Results: The mean follow up period has been 2 years. Complete excision with preservation of nerve was done in all cases except for one case in which nerve graft was used.Conclusions: Use of preoperative MRI, magnification and good surgical technique will help to enucleate the tumour completely without any collateral damage or recurrence. The possibility and option of nerve graft should be discussed with patients prior to schwannoma excision, so that nerve grafting could be directly proceeded with patient consent in case there is fascicular involvement of tumour found intraoperatively.

https://doi.org/10.18203/2320-6012.ijrms20193384

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.