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, synaptophysin 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.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Isotalo PA, Agbi C, Davidson B, et al. Primary primitive neuroectodermal tumor of the cauda equina. Hum Pathol. 2000;8:999–1001.
Reynolds RM, Browing GG, Nawroz I, Campbell IW. Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. Lancet. 2003;361:1552–4.
Martinez-Lage JF, Salcedo C, Corral M, Poza M. Medulloblastomas in neurofibromatosis type 1. Case report and literature review: Neurocirugía (Austur). 2002;13(2):128–31.
Dorfmuller G, Wurtz FG, Umschaden HW, et al. Intraspinal primitive neuroectodermal tumour.: report of two cases and review of the literature. Acta Neurochir (Wien). 1999;141(11):1169–75.
Chan GC, Nicholls JM, Lee AC, et al. Malignant peripheral neuroectodermal tumor in an infant with neurofibromatosis type 1. Med Pediatr Oncol. 1996;3:215–9.
Bolande RP. The neurocristopathics.- An unifying concept of disease arising in neural crest maldevelopment. Hum Pathol. 1974;5:419–29.
Schmidt D, Hermann C, Jürgens H, Harms D. Malignant peripheral neuroectodermal tumour and its necessary distinction from Ewing's sarcoma. Cancer. 1991;68: 2251–9.
Albrecht CF, Weiss E, Schulz-Schaeffer WJ, et al. Primary intraspinal primitive neuroectodermal tumor: report of two cases and review of the literature. J Neurooncol. 2003;61:113–20.
Bacci G, Ferrari S, Bertoni F, et al. Neoadyuvant chemotherapy for peripheral malignant neuroectodermal tumor of bone: Recent experience at the Istituto Rizzoli. J Clin Oncol. 2002;18:885–92.
Terrier P, Henry-Amar M, Triche TJ, et al. Is neuroectodermal differentiation of Ewing's Sarcoma of bone associated with an unfavourable prognosis?. Eur J Cancer. 1995;31A:307–14.
Jürgens H, Paulussen M, Roessner A, et al. Neural differentiation in small cell sarcomas of bone in children and adolescents: Implications for treatment?. Proc Am Soc Clin Oncol. 1993;12:1415 (Abstract).
Enzinger FM, Weiss SW. Primitive neuroectodermal tumors and related lesions. In: Enziger FM, Weiss SW, editors. Soft Tissue Tumors. St Louis: Mosby; 1995. 929–64.
Brinkhuis M, Wijnaeudts LCD, Van der Linden JG, et al. Peripheral primitive neuroectodermal malignant and extra-osseous Ewing's sarcoma: A histological, immunohistochemical and DNA flow cytometry study. Virchows Arch. 1995;425:611–6.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sarmiento, U.B., Bujanda, D.A., Galán, R.C. et al. Lumbar region intra-spinal primitive neuroectodermal tumour (PNET) combined with neurofibromatosis type 1. Clin Transl Oncol 7, 464–467 (2005). https://doi.org/10.1007/BF02716598
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02716598