Malignant peripheral nerve sheath tumours and neurofibromatosis 1 : a case series and recommendations for care

Burger, Henriette ; Bezuidenhout, Heidre ; Sher-Locketz, Candice ; Baatjes, Karin ; Van Wyk, Jacques ; Bonthuys, Anita (2018-08-20)

CITATION: Burger, H. et al. 2018. Malignant peripheral nerve sheath tumours and neurofibromatosis 1 : a case series and recommendations for care. South African Journal of Oncology, 2:a46, doi:10.4102/sajo.v2i0.46.

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Background: The incidence of malignant peripheral nerve sheath tumours (MPNST) in patients with neurofibromatosis 1 (NF1) is significantly higher than that of the general population. NF1-associated MPNST occur at a younger age and carry a worse prognosis than sporadic MPNST. Aim: This case series describes four cases of MPNST in patients with NF1. Setting: The study was performed in a public academic hospital in the Western Cape province of South Africa. Method: Demographics, disease status, histopathology, treatment and outcome data were collected retrospectively from medical charts and through review of histological slides. Results: The median age was 36.5 years. All tumours were > 5 cm at presentation and located on the trunk. One patient presented with metastatic disease. There was a mean delay of 3.5 months from presentation to initiation of treatment. Three patients underwent wide excision, with one receiving adjuvant chemotherapy and radiotherapy. At a median follow-up of 20 months from histological diagnosis only one patient was alive in clinical remission. Two patients had succumbed to progressive disease at 8 and 16 months from diagnosis and one patient with terminal metastatic disease was lost to follow-up. Conclusion: In this series the patients presented with advanced, often unresectable lesions for which single modality therapy was not curative. An adult NF1 health surveillance guideline for resource-constrained environments could lead to early diagnosis and treatment of MPNST and other complications in NF1 patients.

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