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

South African Journal of Oncology

ARTICLE

Henriette Burger¹  Heidre Bezuidenhout³  Candice Sher-Locketz⁵  Karin Baatjes³  Jacques van Wyk⁷  Anita Bonthuys⁹ 

[1] Division of Radiation Oncology, Department of Medical Imaging and Clinical Oncology, Stellenbosch University;Division of Radiation Oncology, Tygerberg Hospital;Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Stellenbosch University;Division of Clinical Genetics, Tygerberg Hospital;Division of Anatomical Pathology, National Health Laboratory Service;Division of General Surgery, Department of Surgical Sciences, Tygerberg Hospital;Division of Dermatology, Department of Medicine, Stellenbosch University;Division of Dermatology, Tygerberg Hospital;Isimo Health

关键词: NF1;    neurofibromatosis;    sarcoma;    neurofibrosarcoma;   

DOI  :  10.4102/sajo.v2i0.46

学科分类：工业工程学

来源: AOSIS

【 摘 要 】

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.

【 授权许可】

CC BY