Familial Cancer

, Volume 18, Issue 1, pp 97–100 | Cite as

Sarcoma in neurofibromatosis 2: case report and review of the literature

  • C. LinderEmail author
  • M. J. Smith
  • M. Bulman
  • A. Wallace
  • A. J. Freemont
  • D. C. Mangham
  • D. G. R. Evans
Original Article


Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell content with little associated matrix and inconclusive immunochemistry. Genetic analysis of a schwannoma and matched blood samples demonstrated a constitutional de novo substitution at the splice donor site of intron 8 of the NF2 gene and aa acquired large deletion of the entire NF2 gene as a second hit, with some loss of SMARCB1. The sarcoma also showed evidence of loss of SMARCB1 and NF2 with loss of INI1 staining. Unfortunately the mass was unresectable and the patient died 6 months after diagnosis. This malignancy was most consistent with SMARCB1-deficient epithelioid malignant peripheral nerve sheath tumour, although a significant differential was proximal-type epithelial sarcoma. Each differential has previously been reported only once with NF2. This demonstrates an extremely rare potential complication of the condition.


Neurofibromatosis type 2 Epithelioid malignant peripheral nerve sheath tumour Proximal-type epithelial sarcoma SMARCB1 



We would like to acknowledge English high specialized commissioned NF2 service.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from all involved participants in this study.


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Copyright information

© Springer Science+Business Media B.V., part of Springer Nature 2018

Authors and Affiliations

  1. 1.The University of Manchester Medical SchoolUniversity of ManchesterManchesterUK
  2. 2.Department of Medical GeneticsSt Mary′s HospitalManchesterUK
  3. 3.Division of Regenerative MedicineThe University of ManchesterManchesterUK
  4. 4.Department of Musculoskeletal PathologyRobert Aitken Institute of Clinical ResearchBirminghamUK

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