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Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature
BACKGROUND: The occurrence of primitive neuroectodermal tumors (PNET) in patients with neurofibromatosis type 1 (NF1) has only been reported in two other cases in English-Language literature. Owing to the rarity of intraspinal PNET and the extremely high gene mutation variability in NF1, there is cu...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications Pvt Ltd
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3228383/ https://www.ncbi.nlm.nih.gov/pubmed/22140640 http://dx.doi.org/10.4103/2152-7806.86835 |
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author | Mulholland, Celene B. Barkhoudarian, Garni Cornford, Marcia E. McBride, Duncan Q. |
author_facet | Mulholland, Celene B. Barkhoudarian, Garni Cornford, Marcia E. McBride, Duncan Q. |
author_sort | Mulholland, Celene B. |
collection | PubMed |
description | BACKGROUND: The occurrence of primitive neuroectodermal tumors (PNET) in patients with neurofibromatosis type 1 (NF1) has only been reported in two other cases in English-Language literature. Owing to the rarity of intraspinal PNET and the extremely high gene mutation variability in NF1, there is currently no conclusive evidence to suggest that PNET is associated with NF1. Here, we report a case of intradural PNET in a patient with NF1. CASE DESCRIPTION: A 27-year-old male underwent a C1-C3 laminectomy for resection of an intramedullary mass. Histopathology and immunohistopathology analysis was performed. Microscopic examination and immunohistochemical staining indicated the mass was a primitive neuroectodermal tumor. Within 1 month after tumor resection, the patient developed leptomeningeal carcinomatosis. The patient was not a candidate for radiation therapy but underwent palliative systemic chemotherapy. He subsequently developed neutropenia and died 3 months after tumor resection. CONCLUSION: To our knowledge, this is the first reported intraspinal PNET associated with NF1. Genetic analysis of CNS PNETs suggests a possible correlation, but larger case series are needed to support this theory. |
format | Online Article Text |
id | pubmed-3228383 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Medknow Publications Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-32283832011-12-02 Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature Mulholland, Celene B. Barkhoudarian, Garni Cornford, Marcia E. McBride, Duncan Q. Surg Neurol Int Case Report BACKGROUND: The occurrence of primitive neuroectodermal tumors (PNET) in patients with neurofibromatosis type 1 (NF1) has only been reported in two other cases in English-Language literature. Owing to the rarity of intraspinal PNET and the extremely high gene mutation variability in NF1, there is currently no conclusive evidence to suggest that PNET is associated with NF1. Here, we report a case of intradural PNET in a patient with NF1. CASE DESCRIPTION: A 27-year-old male underwent a C1-C3 laminectomy for resection of an intramedullary mass. Histopathology and immunohistopathology analysis was performed. Microscopic examination and immunohistochemical staining indicated the mass was a primitive neuroectodermal tumor. Within 1 month after tumor resection, the patient developed leptomeningeal carcinomatosis. The patient was not a candidate for radiation therapy but underwent palliative systemic chemotherapy. He subsequently developed neutropenia and died 3 months after tumor resection. CONCLUSION: To our knowledge, this is the first reported intraspinal PNET associated with NF1. Genetic analysis of CNS PNETs suggests a possible correlation, but larger case series are needed to support this theory. Medknow Publications Pvt Ltd 2011-10-29 /pmc/articles/PMC3228383/ /pubmed/22140640 http://dx.doi.org/10.4103/2152-7806.86835 Text en Copyright: © 2011 Mulholland CB. http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Case Report Mulholland, Celene B. Barkhoudarian, Garni Cornford, Marcia E. McBride, Duncan Q. Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature |
title | Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature |
title_full | Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature |
title_fullStr | Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature |
title_full_unstemmed | Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature |
title_short | Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature |
title_sort | intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: case report and review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3228383/ https://www.ncbi.nlm.nih.gov/pubmed/22140640 http://dx.doi.org/10.4103/2152-7806.86835 |
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