Giant Mediastinal Neurofibroma in a Child with Neurofibromatosis Type I


Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1). This report describes a rare pediatric NF1 case with an unresectable giant mediastinal tumor. Case: A 6-year-old girl with wheezing was admitted to our institution for the further evaluation of a right mediastinal mass on plain chest radiography. On examination, there were multiple café au lait spots mainly on the trunk, and a well-defined, immobile, painless mass was palpable on her neck. The mediastinal lesion was detected as nonuniform mass surrounding the aortic arch, pulmonary artery, and right main bronchus on the contrast-enhanced CT and MRI. Open biopsy was useful to rule out malignancy and revealed neurofibroma, and contributed to follow up and treatment. Discussion: Open biopsy was useful to rule out malignancy, such as malignant peripheral nerve sheath tumor, revealed neurofibroma, and also contributed to follow up and treatment. The authors report successful management by open biopsy and discuss several clinical points regarding mediastinal neurofibroma for NF1.

Share and Cite:

K. Uchida, T. Okada, S. Honda, H. Miyagi, R. Kobayashi, A. Iguchi, K. Kubota and T. Akinobu, "Giant Mediastinal Neurofibroma in a Child with Neurofibromatosis Type I," Surgical Science, Vol. 3 No. 12, 2012, pp. 564-567. doi: 10.4236/ss.2012.312111.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] R. D. Brasfield and T. K. das von Gupta, “Recklinghausen’s Disease: A Clinicopathological Study,” Annals of Surgery, Vol. 175, No. 1, 1972, pp. 86-104. doi:10.1097/00000658-197201000-00015
[2] M. Lammert, J. M. Friedman, L. Kluwe and V. F. Mautner, “Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment,” Archives of Dermatology, Vol. 141, No. 1, 2005, pp. 71-74. doi:10.1001/archderm.141.1.71
[3] L. Valeyrie-Allanore, N. Ismaili, S. Bastuji-Garin, J. Zeller, J. Wechsler, J. Revuz and P. Wolkenstein, “Symptoms Associated with Malignancy of Peripheral Nerve Sheath Tumours: A Retrospective Study of 69 Patients with Neurofibromatosis 1,” British Journal of Dermatology, Vol. 153, No. 1, 2005, pp. 79-82. doi:10.1111/j.1365-2133.2005.06558.x
[4] M. M. Feldkamp, D. H. Gutmann and A. Guha, “Neurofibromatosis Type 1: Piecing the Puzzle Together,” Canadian Journal of Neurological Sciences, Vol. 25, No. 3, 1998, pp. 181-191.
[5] J. M. McGaughran, D. I. Harris, D. Donnai, D. Teare, R. MacLeoa, R. Westerbeek, H. Kingston, M. Super, R. Harris and D. Q. Evans, “A Clinical Study of Type 1 Neurofibromatosis in North West England,” Journal of Medical Genetics, Vol. 36, No. 3, 1999, pp. 197-203.
[6] S. A. Rasmussen, Q. Yang and J. M. Friedman, “Mortality in Neurofibromatosis 1: An Analysis Using U.S. Death Certificates,” The American Journal of Human Genetics, Vol. 68, No. 5, 2001, pp. 1110-1111. doi:10.1086/320121
[7] M. Zoller, B. Rembeck, H. O. Akesson and L. Angervall, “Life Expectancy, Mortality and Prognostic Factors in Neurofibromatosis Type 1: A Twelve-Year Follow-Up of an Epidemiological Study in Goteborg, Sweden,” Acta Dermato-Venereologica, Vol. 75, No. 2, 1995, pp. 136-140.
[8] R. A. Lewis, L. P. Gerson, K. A. Axelson, V. M. Riccardi and R. P. von Whitford, “Recklinghausen Neurofibromatosis. II: Incidence of Optic Gliomata,” Ophthalmology, Vol. 91, No. 8, 1984, pp. 929-935.
[9] A. Creange, J. Zeller, S. Rostaing-Rigattieri, P. Brugières, J. D. Degos, J. Revuz and P. Wolkenstein, “Neurological Complications of Neurofibromatosis Type 1 in Adulthood,” Brain, Vol. 122, No. 3, 1999; pp. 473-481. doi:10.1093/brain/122.3.473
[10] J. S. Guillamo, A. Creange, C. Kalifa, J. Grill, D. Rodriquez, F. Doz, S. Barbarot, M. Zerah, M. Sanson, S. Bastuji-Garia and P. Wolkenstein, “Prognostic Factors of CNS Tumours in Neurofibromatosis 1 (NF1): A Retrospective Study of 104 Patients,” Brain, Vol. 126, No. 1, 2003, pp. 152-160.
[11] A. R. Wychulis, W. S. Payne, O. T. Clagett and L. B. Wodner, “Surgical Treatment of Mediastinal Tumors: A 40-Year Experience,” The Journal of Thoracic and Cardiovascular Surgery, Vol. 62, No. 3, 1971, pp. 379-392.
[12] B. S. Ducatman, B. W. Scheithauer, D. G. Piepgras, H. M. Reiman and D. M. Ilstrup, “Malignant Peripheral Nerve Sheath Tumors. A clinicopathologic Study of 120 Cases,” Cancer, Vol. 57, No. 10, 1986, pp. 2006-2021. doi:10.1002/1097-0142(19860515)57:10<2006::AID-CNCR2820571022>3.0.CO;2-6
[13] R. E. Ferner and D. H. Gutmann, “International Consensus Statement on Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis,” Cancer Research, Vol. 62, No. 5, 2002, pp. 1573-1577.
[14] J. M. Meis, F. M. Enzinger, K. L. Martz and J. A. Neal, “Malignant Peripheral Nerve Sheath Tumors (Malignant Schwannomas) in Children,” The American Journal of Surgical Pathology, Vol. 16, No. 7, 1992, pp. 694-707. doi:10.1097/00000478-199207000-00008
[15] J. S. Suh, P. Abenoza, H. R. Galloway, L. I. Everson and H. J. Griffiths, “Peripheral (Extracranial) Nerve Tumors: Correlation of MR Imaging and Histologic Findings,” Radiology, Vol. 183, No. 2, 1992, pp. 341-346.
[16] D. G. Varma, A. Moulopoulos, A. S. Sara, N. Leeds, R. Kumar and E. E. Kim, “MR Imaging of Extracranial Nerve Sheath Tumors,” Journal of Computer Assisted Tomography, Vol. 16, No. 3, 1992, pp. 448-453. doi:10.1097/00004728-199205000-00020
[17] T. T. Zacharia, D. Jaramillo, T. Y. Poussaint, B. Korf, “MR Imaging of Abdominopelvic Involvement in Neurofibromatosis Type 1: A Review of 43 Patients,” Pediatric Radiology, Vol. 35, No. 3, 2005, pp. 317-322. doi:10.1007/s00247-004-1352-z
[18] R. J. Packer, D. H. Gutmann, A. Rubenstein, D. Viskochil, R. A. Zimmerman and G. Vezina, “Plexiform Neurofibromas in NF1: Toward Biologic-Based Therapy,” Neurology, Vol. 58, No. 10, 2002, pp. 1461-1470.
[19] A. Ferrari, G. Bisogno, A. Macaluso, M. Casanova, P. D’Angelo, P. Pierani, I. Zanetti, R. Alaggio, G. Cecchetto and M. Carti, “Soft-Tissue Sarcomas in Children and Adolescents with Neurofibromatosis Type 1,” Cancer, Vol. 109, No. 7, 2007, pp. 1406-1412.
[20] H. Neville, C. Corpron, M. L. Blakely and R. Andrassy, “Pediatric Neurofibrosarcoma,” Journal of Pediatric Surgery, Vol. 38, No. 3, 2003, pp. 343-346.

Copyright © 2023 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.