ReviewActa neuropathologica2012
Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes.
Review in Acta neuropathologica, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
31 citing papers in PubMed, 84 citations in OpenAlex.
- Multifocal cerebral and orbital neoplastic lesions in a 2-year-old child: a case report and literature review emphasizing diagnostic uncertainty and ethical decision-making.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- T-cell-targeted immunotherapy in neurofibromatosis type 2-related vestibular schwannoma: current evidence and future direction.Brain communications · 2026Review
- Familial Carney complex with embolic ischemic stroke: a case report and literature review.Frontiers in oncology · 2025Article
- Brachial plexus peripheral nerve sheath tumors (PNSTs): clinical and surgical management in the pediatric population.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Left distal sciatic giant solitary myxoid neurofibroma: a case report & literature review.Frontiers in surgery · 2024Article
- Atypical primary malignant melanoma originating in the spinal canal: A case report and literature review.Oncology letters · 2023Article
- A Case of Malignant Melanotic Schwannoma of the Trigeminal Nerve: A Case Report and Review of Literature.Asian journal of neurosurgery · 2023Article
- Sporadic spinal psammomatous malignant melanotic nerve sheath tumor: A case report and literature review.Frontiers in oncology · 2023Article
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- Malignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations.Free neuropathology · 2022Article
- Prostatic Schwannoma Presenting with Prostate-specific Antigen Elevation: A Case Report.The Yale journal of biology and medicine · 2021Article
- Dermatological and endocrine elements in Carney complex (Review).Experimental and therapeutic medicine · 2021Review
- Diagnostic Pathology of Tumors of Peripheral Nerve.Neurosurgery · 2021Review
- Peripheral nerve tumors of the hand: Clinical features, diagnosis, and treatment.World journal of clinical cases · 2020Review
- Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.Clinical orthopaedics and related research · 2020Article
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- Melanotic Schwannoma of the Vagina: A Report of a Very Rare Tumor and Review of the Literature.Case reports in obstetrics and gynecology · 2019Article
- Peripheral nerve injuries in the pediatric population: a review of the literature. Part III: peripheral nerve tumors in children.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Review
- Seminal vesicle schwannoma presenting as rectal pain: successful robotic-assisted excision.Translational andrology and urology · 2017Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
Neoplasms of the peripheral nerve sheath represent essential clinical manifestations of the syndromes known as the neurofibromatoses. Although involvement of multiple organ systems, including skin, central nervous system, and skeleton, may also be conspicuous, peripheral nerve neoplasia is often the most important and frequent cause of morbidity in these patients. Clinical characteristics of neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) have been extensively described and studied during the last century, and the identification of mutations in the NF1 and NF2 genes by contemporary molecular techniques have created a separate multidisciplinary field in genetic medicine. In schwannomatosis, the most recent addition to the neurofibromatosis group, peripheral nervous system involvement is the exclusive (or almost exclusive) clinical manifestation. Although the majority of cases of schwannomatosis are sporadic, approximately one-third occur in families and a subset of these has recently been associated with germline mutations in the tumor suppressor gene SMARCB1/INI1. Other curious syndromes that involve the peripheral nervous system are associated with predominant endocrine manifestations, and include Carney complex and MEN2b, secondary to inactivating mutations in the PRKAR1A gene in a subset, and activating mutations in RET, respectively. In this review, we provide a concise update on the diagnostic criteria, pathology and molecular pathogenesis of these enigmatic syndromes in relation to peripheral nerve sheath neoplasia.
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