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 |
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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 |
| _version_ | 1811328418132787200 |
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| author | Henriette Burger Heidre Bezuidenhout Candice Sher-Locketz Karin Baatjes Jacques van Wyk Anita Bonthuys |
| author_facet | Henriette Burger Heidre Bezuidenhout Candice Sher-Locketz Karin Baatjes Jacques van Wyk Anita Bonthuys |
| author_sort | Henriette Burger |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T15:24:37Z |
| format | Article |
| id | doaj.art-87f6a4b9d0e44668815ca6f0f01d8e4b |
| institution | Directory Open Access Journal |
| issn | 2518-8704 2523-0646 |
| language | English |
| last_indexed | 2024-04-13T15:24:37Z |
| publishDate | 2018-08-01 |
| publisher | AOSIS |
| record_format | Article |
| series | South African Journal of Oncology |
| spelling | doaj.art-87f6a4b9d0e44668815ca6f0f01d8e4b2022-12-22T02:41:33ZengAOSISSouth African Journal of Oncology2518-87042523-06462018-08-0120e1e810.4102/sajo.v2i0.4624Malignant peripheral nerve sheath tumours and neurofibromatosis 1: A case series and recommendations for careHenriette Burger0Heidre Bezuidenhout1Candice Sher-Locketz2Karin Baatjes3Jacques van Wyk4Anita Bonthuys5Division of Radiation Oncology, Department of Medical Imaging and Clinical Oncology, Stellenbosch University, South Africa; Division of Radiation Oncology, Tygerberg HospitalDivision of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Stellenbosch University, South Africa; Division of Clinical Genetics, Tygerberg HospitalDivision of Anatomical Pathology, National Health Laboratory ServiceDivision of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Stellenbosch University, South Africa; Division of General Surgery, Department of Surgical Sciences, Tygerberg HospitalDivision of Dermatology, Department of Medicine, Stellenbosch University, South Africa; Division of Dermatology, Tygerberg HospitalIsimo Health, Cape TownBackground: 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.https://sajo.org.za/index.php/sajo/article/view/46NF1neurofibromatosissarcomaneurofibrosarcoma |
| spellingShingle | Henriette Burger Heidre Bezuidenhout Candice Sher-Locketz Karin Baatjes Jacques van Wyk Anita Bonthuys Malignant peripheral nerve sheath tumours and neurofibromatosis 1: A case series and recommendations for care South African Journal of Oncology NF1 neurofibromatosis sarcoma neurofibrosarcoma |
| title | Malignant peripheral nerve sheath tumours and neurofibromatosis 1: A case series and recommendations for care |
| title_full | Malignant peripheral nerve sheath tumours and neurofibromatosis 1: A case series and recommendations for care |
| title_fullStr | Malignant peripheral nerve sheath tumours and neurofibromatosis 1: A case series and recommendations for care |
| title_full_unstemmed | Malignant peripheral nerve sheath tumours and neurofibromatosis 1: A case series and recommendations for care |
| title_short | Malignant peripheral nerve sheath tumours and neurofibromatosis 1: A case series and recommendations for care |
| title_sort | malignant peripheral nerve sheath tumours and neurofibromatosis 1 a case series and recommendations for care |
| topic | NF1 neurofibromatosis sarcoma neurofibrosarcoma |
| url | https://sajo.org.za/index.php/sajo/article/view/46 |
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