Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature - PubMed (original) (raw)

Case Reports

Intraspinal primitive neuroectodermal tumor in a man with neurofibromatosis type 1: Case report and review of the literature

Celene B Mulholland et al. Surg Neurol Int. 2011.

Abstract

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.

Keywords: Intramedullary primitive neuroectodermal tumors; neurofibromatosis type 1; primitive neuroectodermal tumor.

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Figures

Figure 1

Figure 1

MRI of the neck with gadolineum. a) Sagittal T1 image illustrating an intramedullary enhancing mass from the cervicomedullary junction to C4. Leptomeningeal enhancement is also present. b) Axial T1 image illustrating the intramedullary mass and leptomeningeal enhancement. c) Axial image of cervical spine illustrating a dumbbell mass extending through C5-C6 neural foramen and paraspinal mass. d) Coronal T1 image illustrating intramedullary mass

Figure 2

Figure 2

HandE staining illustrating small round blue cells with high mitotic rate, atypical mitosis (red arrow), and pleomorphic nuclei (green bracket) characteristic of a primitive neuroectodermal tumor

Figure 3

Figure 3

Immunohistomchemical staining. a) GFAP positive b) Synapthophysin positive, illustrating positivity around a binucleated cell (red arrow)

References

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