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

Heidre Bezuidenhout,Karin Baatjes,Henriette Burger,Jacques Van Wyk,Anita Bonthuys,Candice Sher-Locketz

doi:10.4102/sajo.v2i0.46

Abstract

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.

Highlights

Neurofibromatosis 1 (NF1) is a relatively common, autosomal dominant, neuro-cutaneous genetic disorder caused by a germline mutation in the NF1 tumour suppressor gene on chromosome 17q11.1 The disorder is associated with the development of several benign and malignant neoplasms, of which malignant peripheral nerve sheath tumours (MPNST) are the most common malignancy.[2]
This case series describes the clinico-pathologic characteristics, treatment and outcomes of four cases of MPNST in patients with NF1 referred to the sarcoma multidisciplinary team (SMDT) at Tygerberg Academic Hospital (TBAH), between 2013 and 2016
In Box 2 we propose a basic surveillance strategy for NF1 adults over the age of 18 years in resource-limited settings, considering current international guidelines and constraints in the public healthcare services.[4,7,14,38]

Summary

Introduction

Neurofibromatosis 1 (NF1) is a relatively common, autosomal dominant, neuro-cutaneous genetic disorder caused by a germline mutation in the NF1 tumour suppressor gene on chromosome 17q11.1 The disorder is associated with the development of several benign and malignant neoplasms, of which malignant peripheral nerve sheath tumours (MPNST) are the most common malignancy.[2] The incidence of MPNST in patients with NF1 is more than 4000 times that of the general population.[3] MPNST associated with NF1 occur at a younger age, are multicentric and carry a worse prognosis than sporadic MPNST.[3,4] Importantly, it is the leading cause of early death in patients with NF1.5 Clinical features of NF1 usually develop in childhood, but MPNST is most prevalent between the age of 20 and 40 years.[4] Currently no adult NF1 surveillance programme exists in the Western Cape public health system that could lead to the timely diagnosis and management of these tumours. NF1-associated MPNST occur at a younger age and carry a worse prognosis than sporadic MPNST

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