Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1
Introduction: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. Methods: We ide...
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doaj-f47d15e33b154fe8bc44d790f668a8822020-11-24T23:19:40ZengKarger PublishersCase Reports in Oncology1662-65752016-10-019356857310.1159/000449406449406Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1Anastasie M. Dunn-PirioElizabeth HowellRoger E. McLendonKatherine B. PetersIntroduction: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. Methods: We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with neurofibromatosis type 1. Diagnosis of neurofibromatosis type 1 was made clinically and confirmed with genetic testing that revealed a heterozygous one-amino-acid deletion (c.2970–2972 delAAT) in exon 17 of the NF1 gene, which is correlated with a milder phenotype. The patient underwent a partial surgical resection of the spinal cord tumor followed by adjuvant carboplatin 560 mg/m2 every 4 weeks. Radiation was avoided due to risks associated with neurofibromatosis type 1. Results: At the 11-month follow-up, the patient maintained a partial radiographic response as well as complete resolution of her neurologic deficits. Conclusion: To our knowledge, this is the first reported case of an adult patient with neurofibromatosis type 1 and a spinal cord PMA. Single-agent carboplatin was effective and well-tolerated.http://www.karger.com/Article/FullText/449406Spinal cord tumorAstrocytomaPilomyxoid astrocytomaNeurofibromatosis type 1Carboplatin |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Anastasie M. Dunn-Pirio Elizabeth Howell Roger E. McLendon Katherine B. Peters |
spellingShingle |
Anastasie M. Dunn-Pirio Elizabeth Howell Roger E. McLendon Katherine B. Peters Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1 Case Reports in Oncology Spinal cord tumor Astrocytoma Pilomyxoid astrocytoma Neurofibromatosis type 1 Carboplatin |
author_facet |
Anastasie M. Dunn-Pirio Elizabeth Howell Roger E. McLendon Katherine B. Peters |
author_sort |
Anastasie M. Dunn-Pirio |
title |
Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1 |
title_short |
Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1 |
title_full |
Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1 |
title_fullStr |
Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1 |
title_full_unstemmed |
Single-Agent Carboplatin for a Rare Case of Pilomyxoid Astrocytoma of the Spinal Cord in an Adult with Neurofibromatosis Type 1 |
title_sort |
single-agent carboplatin for a rare case of pilomyxoid astrocytoma of the spinal cord in an adult with neurofibromatosis type 1 |
publisher |
Karger Publishers |
series |
Case Reports in Oncology |
issn |
1662-6575 |
publishDate |
2016-10-01 |
description |
Introduction: Pilomyxoid astrocytoma (PMA) is a rare and more aggressive variant of pilocytic astrocytoma, which usually affects young children and is most often located in the hypothalamic/chiasmatic region. The association of PMA with underlying genetic disorders is not well known. Methods: We identified a 23-year-old woman with a PMA of the spinal cord who was simultaneously diagnosed with neurofibromatosis type 1. Diagnosis of neurofibromatosis type 1 was made clinically and confirmed with genetic testing that revealed a heterozygous one-amino-acid deletion (c.2970–2972 delAAT) in exon 17 of the NF1 gene, which is correlated with a milder phenotype. The patient underwent a partial surgical resection of the spinal cord tumor followed by adjuvant carboplatin 560 mg/m2 every 4 weeks. Radiation was avoided due to risks associated with neurofibromatosis type 1. Results: At the 11-month follow-up, the patient maintained a partial radiographic response as well as complete resolution of her neurologic deficits. Conclusion: To our knowledge, this is the first reported case of an adult patient with neurofibromatosis type 1 and a spinal cord PMA. Single-agent carboplatin was effective and well-tolerated. |
topic |
Spinal cord tumor Astrocytoma Pilomyxoid astrocytoma Neurofibromatosis type 1 Carboplatin |
url |
http://www.karger.com/Article/FullText/449406 |
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