ArticleActa neurochirurgica2022
Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma.
Article in Acta neurochirurgica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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6 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- An overview on manifestation and management of glossopharyngeal schwannoma: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Pooled it
- Review
- Incidence of rare malignant transformation in vestibular schwannomas treated with stereotactic radiosurgery: a single-institution analysis of 1,061 cases.Journal of neuro-oncology · 2025Article
- Availability and utilization of molecular testing for primary central nervous system tumors among US hospitals.Journal of neuropathology and experimental neurology · 2024Article
- Malignant melanotic nerve sheath tumor with PRKAR1A, KMT2C, and GNAQ mutations.Free neuropathology · 2022Article
- Spontaneous cellular senescence and stress response heterogeneity in human vestibular schwannomas.Neuro-oncology advancesArticle
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMalignant peripheral nerve sheath tumor of the vestibulocochlear nerve (VN-MPNST) is exceedingly rare and carries a poor prognosis. Little is known about its underlying genetics and in particular the process of malignant transformation. There is an ongoing debate on whether the transformation is initiated by ionizing radiation. We present here the analysis and comparison of two post-radiation VN-MPNST and one undergoing spontaneous transformation.
methodsFour tumors from three patients (radiation-naïve vestibular schwannoma before (VS) and after (VN-MPNST) malignant transformation in addition to two post-radiation VN-MPNST) were subjected to DNA whole-genome microarray and whole-exome sequencing and tumor-specific mutations were called. Mutational signatures were characterized using MuSiCa.
resultsThe tumor genomes were characterized predominantly by copy-number aberrations with 36-81% of the genome affected. Even the VS genome was grossly aberrated. The spontaneous malignant transformation was characterized by a near-total whole-genome doubling, disappearance of NF2 mutation and new mutations in three cancer-related genes (GNAQ, FOXO4 and PDGFRB). All tumors had homozygous loss of the tumor suppressor CDKN2A. Neither mutational signature nor copy number profile was associated with ionizing radiation.
conclusionThe VN-MPNST genome in our cases is characterized by large copy-number aberrations and homozygous deletion of CDKN2A. Our study demonstrates a VS with genetic alterations similar to its malignant counterpart, suggesting the existence of premalignant VS. No consistent mutational signature was associated with ionizing radiation.
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