Malignant peripheral nerve sheath tumours and neurofibromatosis 1: A case series and recommendations for care
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 d...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
AOSIS
2018-08-01
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| Series: | South African Journal of Oncology |
| Subjects: | |
| Online Access: | https://sajo.org.za/index.php/sajo/article/view/46 |
| Summary: | 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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| ISSN: | 2518-8704 2523-0646 |