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Neurofibromatosis Type 1 pp 429–443Cite as

Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF1

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Abstract

Neurofibromas are the hallmark and defining feature of NF1. NF1 patients develop numerous neurofibromas of different subtypes. The plexiform neurofibroma is the subtype most characteristic (and indeed almost pathognomonic) of NF1. Neurofibroma subtypes share common histological features but have different clinical characteristics and biological behavior. Of all the different neurofibroma subtypes, plexiform neurofibromas have the highest risk of malignant transformation to malignant peripheral nerve sheath tumor (MPNST). Some histological types of MPNST are seen almost exclusively in NF1 patients. MPNST and neurofibromas may be difficult to differentiate as they represent two ends in a continuum spectrum of changes. The use of immunohistochemical stains that reflect underlying molecular alterations (in p53 and p16) commonly acquired in MPNSTs, can aid in the differential diagnosis in difficult cases.

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Authors and Affiliations

  1. Department of Pathology, Massachusetts General Hospital, Charlestown, MA, 02129, USA

    Anat Stemmer-Rachamimov & G. Petur Nielsen

  2. Molecular Neuro-oncology Laboratory, Harvard Medical School, Boston, MA, USA

    Anat Stemmer-Rachamimov & G. Petur Nielsen

Authors
  1. Anat Stemmer-Rachamimov
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  2. G. Petur Nielsen
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Correspondence to Anat Stemmer-Rachamimov .

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Editors and Affiliations

  1. School of Medicine, Institute of Medical Genetics, Cardiff University, Heath Park Campus, Cardiff, 144XN, United Kingdom

    Meena Upadhyaya

  2. School of Medicine, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, United Kingdom

    David N. Cooper

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Stemmer-Rachamimov, A., Nielsen, G.P. (2012). Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF1. In: Upadhyaya, M., Cooper, D. (eds) Neurofibromatosis Type 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-32864-0_28

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