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2009, Number 5

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Cir Cir 2009; 77 (5)

Tumor de vaina nerviosa periférica maligno asociado a neurofibromatosis tipo 1. Informe de dos casos

Baena-Ocampo LC, Reyes-Sánchez A, Alpízar-Aguirre A, Rosales-Olivares LM

Language: Spanish
References: 22
Page: 391-395
PDF size: 215.15 Kb.


ABSTRACT

Background: Malignant peripheral nerve sheath tumor (MPNST) is a sarcoma with a high grade of malignancy originating in the nerve sheath components, fibroblasts, perineural cells, and Schwann cells. It is associated with neurofibromatosis type 1 (NF-1) with a risk of 10–13%.
Clinical cases: We present two cases of NF-1-associated MPNST. The first patient presented moderate pain with no apparent cause, in addition to the presence of intraspinal lesion demonstrated by nuclear magnetic resonance imaging (NMRI), which was managed surgically on two occasions. Histologically, it corresponded to a neurofibromatosis lesion in transition with malignant neoplasm. The second case manifested with thoracic kyphoscoliosis, pain, and an increase in volume. Associated with the deformity, MRI showed a withering tumor in the posterior thoracic region (T1–T8), observing an infiltrating, cellular sarcomatose neoplasm with immunopositivity for S-100 protein and vimentin.
Conclusions: MPNSTs are sarcomas with a high index of recurrence with the ability to produce distant metastasis during early stages. Despite wide resection, patients did not survive due to the advancement and size of the lesions (determining factors in the prognosis). Due to the progressive growth of MPNST and the anatomic difficulty for its approach, there should be strict control of patients with NF-1 for early detection of malignant transformation in these lesions.


REFERENCES

  1. Weiss SW, Goldblum JR. Enzinger and Weiss’s Soft Tissue Tumors. 5th ed. St. Louis: Mosby; 2008. pp. 903-944.

  2. Bilgic B, Ates LE, Demiryont M, Ozger H, Dizdar Y. Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Pathol Oncol Res 2003;9:201-205.

  3. Ducatman BS, Scheithauer BW, Piepgras DG, Reiman HM, Ilstrup DM. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer 1986;57:2006-2011.

  4. Ferner ER, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis 1. Cancer Res 2002;62:1573-1577.

  5. Baehring JM, Betensky RA, Batchelor TT. Malignant peripheral nerve sheath tumor. The clinical spectrum and outcome of treatment. Neurology 2003;61:696-698.

  6. Mautner VF, Friedrich RE, von Deimling A, Hagel C, Korf B, Knöfel MT, et al. Malignant peripheral nerve sheath tumors in neurofibromatosis type I: MRI supports the diagnosis of malignant plexiform neurofibroma. Neuroradiology 2003;45:618-625.

  7. Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumors in neurofibromatosis I. J Med Genet 2002;39:311-314.

  8. Tucker T, Wolkenstein P, Revuz J, Zeller J, Friedman JM. Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology 2005;65:205-211.

  9. King AA, Debaun MR, Riccardi VM, Gutmann DH. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet 2000;93:388-392.

  10. Verma R, Chhabra A, Bhutani C, Jain D, Singh J. Neurofibromatosis: a diagnostic mimicker on CT in a known case of malignancy. Indian J Cancer 2002;39:151-153.

  11. Rasmussen SA, Overman J, Thomson SA, Colman SD, Abernathy CR, Trimpert RE, et al. Chromosome 17 loss of heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1. Genes Chromosomes Cancer 2000;28:425:431.

  12. Frahm S, Mautner V, Brems H, Legius E, Debiec-Rychter M, Friedrich R, et al. Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients. Neurobiol Dis 2004;16:85-91.

  13. Kendall FP. Músculos, pruebas y funciones. Barcelona: JIMS; 1985. pp. 129-183.

  14. Thakkar SD, Feigen U, Mautner VF. Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety. Neuroradiology 1999;41:625-629.

  15. Van Goethem JW, van den Hauwe L, Ozsarlak O, De Schepper AM, Parizel PM. Spinal tumors. Eur J Radiol 2004;50:159-176.

  16. Ramanathan RC, Thomas JM. Malignant peripheral nerve sheath tumours associated with von Recklinhausen’s neurofibromatosis Eur J Surg Oncol 1999;25:190-193.

  17. Hruban RH, Shiu MH, Senie RT, Woodruff JM. Malignant peripheral nerve sheath tumors of the buttock and lower extremity. A study of 43 cases. Cancer 1990;66:1253-1265.

  18. Wick MR, Swanson PE, Scheithauer BW, Manivel JC. Malignant peripheral nerve sheath tumors: an immunohistochemical study of 62 cases. Am J Clin Pathol 1987;87:425-433.

  19. Ducatman BS, Scheithauer BW. Malignant peripheral nerve sheath tumors with divergent differentiation. Cancer 1984;54:1049-1057.

  20. Stasik CJ, Tawfik O. Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differentiation (malignant triton tumor). Arch Pathol Lab Med 2006;130:1878-1881.

  21. Halling KC, Scheithauer BW, Halling AC, Nascimiento AG, Ziesmer SC, Roche PC, et al. p53 expression in neurofibroma and malignant peripheral nerve sheath tumor. An immunohistochemical study of sporadic and NF1 associated tumors. Am J Clin Pathol 1996;106:282-288.

  22. Leroy K, Dumas V, Martin-Garcia N, Falzone MC, Voisin MC, Wechsler J, et al. Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients. Arch Dermatol 2001;137:908-913.




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