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Histological features, diagnostic evaluation, and genomic alterations
Source: Childhood Soft Tissue Sarcoma Treatment (PDQ®)–Health Professional Version, National Cancer Institute.
Source updated: April 21, 2025 · Captured 2026-09-09.
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Context: Treatment of Peripheral Nerve Sheath Tumors / Malignant Peripheral Nerve Sheath Tumor (MPNST) NOS
The molecular pathogenesis of adult MPNSTs demonstrates inactivating variants in at least three pathways, including NF1, CDKN2A, CDKN2B, and PRC2 complex core components. Similar alterations have been reported in pediatric tumors.[4]
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Inactivating variants of SUZ12 have been described in these tumors and are absent in neurofibromas.[5]
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A DNA methylation array for methylome-based and profile-based chromosomal characterization was performed on 171 peripheral nerve sheath tumors.[6] Atypical neurofibromas and low-grade MPNSTs were indistinguishable, with a common methylation profile and loss of CDKN2A. Epigenomic analysis identified two groups of conventional high-grade MPNSTs sharing a frequent loss of neurofibromin. The larger group showed an additional loss of trimethylation of H3K27me3. The smaller group of patients with predominantly spinal primary sites showed retention of H3K27me3.
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Genomic profiling was performed on 201 MPNSTs.[7] Thirteen of 201 tumors demonstrated BRAF alterations.
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The Memorial Sloan Kettering Cancer Center studied archival and consultation material from 64 pediatric and young adult patients (aged 20 years or younger).[4] Fifty-eight percent of patients had a clinical history of NF1. All but one patient had high-grade MPNSTs. Overall, 89% of patients were classified as having high-grade MPNSTs, and 94% of patients had conventional histological features. There were 16 high-grade tumors available for molecular characterization using the MSK-IMPACT assay. These pediatric and adolescent tumors had genomic driver events that were similar to those in adult tumors. The study found genomic perturbations in PRC2 components (SUZ12 or EED; 9 cases), NF1 variants (8 cases), and CDKN2A and CDKN2B deletions (8 cases). Loss of HDK27me3 expression was noted in 82% of conventional high-grade MPNSTs. This finding is a potentially powerful immunohistochemical diagnostic marker for pediatric MPNSTs.
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