Encyclopedia of Pathology

Living Edition
| Editors: J.H.J.M. van Krieken

Malignant Peripheral Nerve Sheath Tumor (MPNST)

  • Judith V. M. G. BovéeEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-3-319-28845-1_5422-1


Malignant spindle cell neoplasm often arising from or in association with a peripheral nerve, from a preexisting benign nerve sheath tumor, or in a patient with neurofibromatosis type 1 (NF1). Schwann cell differentiation can sometimes still be demonstrated either histologically or immunohistochemically. Of all MPNSTs, 27–64% occur in individuals with neurofibromatosis, <10% is associated with previous irradiation, and 45–65% occur sporadic (Miao et al. 2019; Le Guellec et al. 2016). The latter group is most difficult to diagnose.

Clinical Features

  • Incidence

    MPNST represents ~5% of the soft tissue sarcomas. MPNST may occur in patients with neurofibromatosis, an autosomal dominant tumor susceptibility syndrome affecting ~1 in 3000 newborn infants. The risk of developing MPNST in a background of NF1 is estimated at 10–15%.

  • Age

    The median age is 37–41 years, with a reported age range from 3 to 95 years (Miao et al. 2019; Le Guellec et al. 2016). Patients with MPNST in NF1 or...

This is a preview of subscription content, log in to check access.

References and Further Reading

  1. Brohl, A. S., Kahen, E., Yoder, S. J., Teer, J. K., & Reed, D. R. (2017). The genomic landscape of malignant peripheral nerve sheath tumors: Diverse drivers of Ras pathway activation. Scientific Reports, 7(1), 14992.CrossRefGoogle Scholar
  2. Cleven, A. H., Sannaa, G. A., Briaire-de Bruijn, I., et al. (2016). Loss of H3K27 tri-methylation is a diagnostic marker for malignant peripheral nerve sheath tumors and an indicator for an inferior survival. Modern Pathology, 29(6), 582–590.CrossRefGoogle Scholar
  3. Gaspard, M., Lamant, L., Tournier, E., et al. (2018). Evaluation of eight melanocytic and neural crest-associated markers in a well-characterised series of 124 malignant peripheral nerve sheath tumours (MPNST): Useful to distinguish MPNST from melanoma? Histopathology, 73(6), 969–982.CrossRefGoogle Scholar
  4. Le Guellec, S., Decouvelaere, A. V., Filleron, T., et al. (2016). Malignant peripheral nerve sheath tumor is a challenging diagnosis: A systematic pathology review, immunohistochemistry, and molecular analysis in 160 patients from the French sarcoma group database. The American Journal of Surgical Pathology, 40(7), 896–908.CrossRefGoogle Scholar
  5. Lee, W., Teckie, S., Wiesner, T., et al. (2014). PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors. Nature Genetics, 46(11), 1227–1232.CrossRefGoogle Scholar
  6. Miao, R., Wang, H., Jacobson, A., et al. (2019). Radiation-induced and neurofibromatosis-associated malignant peripheral nerve sheath tumors (MPNST) have worse outcomes than sporadic MPNST. Radiotherapy and Oncology, 137, 61–70.CrossRefGoogle Scholar
  7. Miettinen, M. M., Antonescu, C. R., Fletcher, C. D. M., et al. (2017). Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Human Pathology, 67, 1–10.CrossRefGoogle Scholar
  8. Prieto-Granada, C. N., Wiesner, T., Messina, J. L., Jungbluth, A. A., Chi, P., & Antonescu, C. R. (2016). Loss of H3K27me3 expression is a highly sensitive marker for sporadic and radiation-induced MPNST. The American Journal of Surgical Pathology, 40(4), 479–489.CrossRefGoogle Scholar
  9. Reuss, D. E., Habel, A., Hagenlocher, C., et al. (2014). Neurofibromin specific antibody differentiates malignant peripheral nerve sheath tumors (MPNST) from other spindle cell neoplasms. Acta Neuropathologica, 127(4), 565–572.CrossRefGoogle Scholar
  10. Zhang, M., Wang, Y., Jones, S., et al. (2014). Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors. Nature Genetics, 46(11), 1170–1172.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of PathologyLUMCLeidenThe Netherlands