ArticleThe American journal of surgical pathology2019
Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors.
Article in The American journal of surgical pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 71 citations in OpenAlex.
- Epithelioid Sarcoma of the Oral Cavity: A Multi-institutional Clinicopathologic and Immunophenotypic Characterization of Five Cases and Comprehensive Literature Review.Head and neck pathology · 2026Review
- Malignant peripheral nerve sheath tumors arising in SMARCB1-associated schwannomatosis: illustrative cases.Journal of neurosurgery. Case lessons · 2026Article
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- Clinicopathological and molecular perspectives on thoracic SMARCA4-deficient undifferentiated tumors and SMARCA4-deficient non-small cell lung carcinomas.Pathologica · 2025Review
- Rapid Malignant Transformation of a Biopsy Proven Sporadic Soft Tissue Schwannoma to Spindle Cell MPNST WithInternational journal of surgical pathology · 2025Article
- Targeting developmental vulnerabilities in childhood sarcomas.Cancer metastasis reviews · 2025Review
- Recurrent schwannomatosis with mosaic SMARCB1 loss: A case report.Experimental and therapeutic medicine · 2025Article
- Intramedullary epithelioid malignant peripheral nerve sheath tumour arising from sporadic schwannoma in the thoracic spine: first case report and review of the literature.Journal of spine surgery (Hong Kong) · 2025Article
- Translational Aspects of Epithelioid Sarcoma: Current Consensus.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Epithelioid malignant peripheral nerve sheath tumor of the bladder and concomitant urothelial carcinoma: A case report.World journal of clinical cases · 2024Article
- [Histological and molecular characteristics of tumours of the peripheral nervous system].Pathologie (Heidelberg, Germany) · 2023Article
- Epigenetic Regulation in Primary CNS Tumors: An Opportunity to Bridge Old and New WHO Classifications.Cancers · 2023Review
- Review
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
- Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart.Genes, chromosomes & cancer · 2023Article
- A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature.Frontiers in neurology · 2023Article
- Histopathological features of giant mediastinal tumors-a literature review.Mediastinum (Hong Kong, China) · 2023Review
- Molecular testing of soft tissue tumors.Diagnostic cytopathology · 2023Review
- The genetic landscape of SMARCB1 alterations in SMARCB1-deficient spectrum of mesenchymal neoplasms.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Updates in Pathology for Retroperitoneal Soft Tissue Sarcoma.Current oncology (Toronto, Ont.) · 2022Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Epithelioid malignant peripheral nerve sheath tumors (EMPNST) are characterized by diffuse S-100 and SOX10 positivity, frequent immunohistochemical loss of SMARCB1 expression (70%), and rare association with neurofibromatosis type 1. Some cases arise in a preexisting epithelioid schwannoma (ESCW), which also show SMARCB1 loss in 40% of cases. To date, little is known about the genomic landscape of this distinctive variant of malignant peripheral nerve sheath tumor. The aim of this study was to use targeted next-generation sequencing to identify recurrent genomic aberrations in EMPNST and a subset of ESCW, including the basis of SMARCB1 loss. Sixteen EMPNSTs (13 SMARCB1-lost, 3 SMARCB1-retained) and 5 ESCWs with SMARCB1 loss were selected for the cohort. Sequencing identified SMARCB1 gene inactivation in 12/16 (75%) EMPNST and all 5 (100%) ESCW through homozygous deletion (N=8), nonsense (N=7), frameshift (N=2), or splice site (N=2) mutations; 2 EMPNSTs harbored 2 concurrent mutations each. SMARCB1 immunohistochemistry status and SMARCB1 alterations were concordant in 20/21 of the sequenced tumors. Additional genetic alterations in a subset of EMPNST included inactivation of CDKN2A and gain of chromosome 2q. Among SMARCB1-wild-type EMPNSTs there were single cases each with NF1 and NF2 mutations. No cases had SUZ12 or EED mutations. In summary, we identified recurrent SMARCB1 alterations in EMPNST (and all 5 SMARCB1-negative ESCWs tested), supporting loss of SMARCB1 tumor suppressor function as a key oncogenic event. SMARCB1-retained EMPNSTs lack SMARCB1 mutations and harbor different driver events.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.