Lumbar region intra-spinal primitive neuroectodermal tumour (PNET) combined with neurofibromatosis type 1

Abstract

Primitive neuroectodermal tumours (PNET) are aggressive neoplasias that are diagnosed, usually, in infancy. Their appearance in adulthood is rare and, exceptionally, in association with neurofibromatosis type I (NF-1). We present a case of a 37 year-old man with NF-1 combined with PNET in the intra-arachidial lumbar region. Diagnosis was by Nuclear Magnetic Resonance (NMR) and biopsy of soft tissue mass which showed a PNET with undifferentiated round cells and immunohistochemically positive for CD99, neurone-specific enolase, synaptophys in and LEU-7. Surgery was performed with spine decompression and resection of 80% of the tumour, with symptoms improvement. Radiotherapy was administered on the lumbosacral column, but only up to 30 Gy because of severe actinic enteritis and pan-cytopenia grade III. Six months later, the patient was hospitalized with deterioration in his overall clinical status with multi-organ involvement. The patient died and an autopsy was performed. The initial treatment of the PNET is surgery and, if possible, the radical extirpation of the tumour. Administration of radiotherapy and chemotherapy appears to increase survival. We comment on the clinical, histological, cytological and immunohistochemical aspects together with a review of the literature. To the best of our knowledge this is the first documentation of such a case.

Clinical presentation and long-term outcome of primary spinal peripheral primitive neuroectodermal tumors

“…None of our patients received the combination of high-dose chemotherapy and autologous stem cell rescue as a supplement of surgery and radiotherapy. However, this treatment modality has shown promising results in previous reports [28,29].…”

Peripheral Primitive Neuroectodermal Tumor and Neurofibromatosis Type 1 in an Adolescent Male

“…pPNETs are within the family of Ewing sarcoma tumors, but differ in their degree of neural differentiation . Three previous reports described NF1 patients with pPNET; however, our unique adolescent male highlights a category of patients (adolescents and young adults [AYA]) whose outcomes are influenced not only by treatment but also by “host” biology . Further cases of AYA with NF1 and pPNET and other rare tumors are necessary to contribute to understand genetic mechanisms linking NF1 and pPNET.…”

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

“…[4142] Although it is characterized by almost 100% penetrance, variable expression produces a wide range of clinical manifestations of the disorder. [4142] As such, two or more of the recognized diagnostic criteria for NF1 are required for diagnosis [Table 1]. …”