ArticleThe Journal of clinical investigation2020
Targetable ERBB2 mutations identified in neurofibroma/schwannoma hybrid nerve sheath tumors.
Article in The Journal of clinical investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Contemporary Profile of Hybrid Nerve Sheath Tumors: Clinical, Anatomical, and Imaging Characteristics.Cancers · 2026Article
- Foundation artificial intelligence models enable high-accuracy diagnostic differentiation of hybrid neurofibroma/schwannoma using whole-slide images.Journal of pathology informatics · 2026Article
- Deciphering and Targeting the Schwannoma-Neuron-Macrophage Crosstalk for the Treatment of Schwannomatosis and Associated Pain.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Beyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms.Translational vision science & technology · 2026Review
- Hybrid neurofibroma/schwannoma in schwannomatosis-a diagnostically challenging benign peripheral nerve sheath tumour.Familial cancer · 2025Review
- Hybrid granular cell tumor/perineurioma: a report of two rare cases with PIK3CA mutations.Virchows Archiv : an international journal of pathology · 2025Article
- Article
- ERBB2/ ERBB3-mutated S100/ SOX10-positive unclassified high-grade uterine sarcoma: first detailed description of a novel entity.Virchows Archiv : an international journal of pathology · 2024Article
- Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas.Virchows Archiv : an international journal of pathology · 2024Article
- Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.Neuro-oncology · 2023Article
- [Histological and molecular characteristics of tumours of the peripheral nervous system].Pathologie (Heidelberg, Germany) · 2023Article
- Review
- Role of nerves in neurofibromatosis type 1-related nervous system tumors.Cellular oncology (Dordrecht, Netherlands) · 2022Review
- Precision oncology for intrahepatic cholangiocarcinoma in clinical practice.British journal of cancer · 2022Article
- Molecular matched targeted therapies for primary brain tumors-a single center retrospective analysis.Journal of neuro-oncology · 2022Article
- Morphological Relation of Peripheral Nerve Sheath Tumors and Nerve Fascicles: Prospective Study and Classification.Journal of clinical medicine · 2022Article
- Review
- Surgical Management of Sporadic Peripheral Nerve Schwannomas in Adults: Indications and Outcome in a Single Center Cohort.Cancers · 2021Article
- Diagnostic Pathology of Tumors of Peripheral Nerve.Neurosurgery · 2021Review
- Solitary Hybrid Neurofibroma-Schwannoma of the Brachial Plexus in a 4-Year-Old Child.Journal of Indian Association of Pediatric SurgeonsArticle
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Authors and funding
24 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUNDNeurofibroma/schwannoma hybrid nerve sheath tumors (N/S HNSTs) are neoplasms associated with larger nerves that occur sporadically and in the context of schwannomatosis or neurofibromatosis type 2 or 1. Clinical management of N/S HNSTs is challenging, especially for large tumors, and established systemic treatments are lacking.METHODSWe used next-generation sequencing and array-based DNA methylation profiling to determine the clinically actionable genomic and epigenomic landscapes of N/S HNSTs.RESULTSWhole-exome sequencing within a precision oncology program identified an activating mutation (p.Asp769Tyr) in the catalytic domain of the ERBB2 receptor tyrosine kinase in a patient with schwannomatosis-associated N/S HNST, and targeted treatment with the small-molecule ERBB inhibitor lapatinib led to prolonged clinical benefit and a lasting radiographic and metabolic response. Analysis of a multicenter validation cohort revealed recurrent ERBB2 mutations (p.Leu755Ser, p.Asp769Tyr, p.Val777Leu) in N/S HNSTs occurring in patients who met diagnostic criteria for sporadic schwannomatosis (3 of 7 patients), but not in N/S HNSTs arising in the context of neurofibromatosis (6 patients) or outside a tumor syndrome (1 patient), and showed that ERBB2-mutant N/S HNSTs cluster in a distinct subgroup of peripheral nerve sheath tumors based on genome-wide DNA methylation patterns.CONCLUSIONThese findings uncover a key biological feature of N/S HNSTs that may have important diagnostic and therapeutic implications.FUNDINGThis work was supported by grant H021 from DKFZ-HIPO, the University Cancer Center Frankfurt, and the Frankfurt Research Funding Clinician Scientist Program.
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