YooSY, HwangSM, Lee MK, Jo DS, Hwang PH. Simultaneous presentation of malignant peripheral nerve sheath tumor and moyamoya disease associated with neurofibromatosis type 1 in a child. Turk J Pediatr 2015; 57: 202-205. Neurofibromatosis type 1 (NF-1) is a rare hereditary disorder, which is inherited as an autosomal dominant trait. It is characterized by multiple caféau-lait spots of the skin, benign cutaneous neurofibromas, skeletal dysplasia and learning disability. The association of NF-1 with benign and malignant tumors is well established. The lifetime risk of patients with NF-1 developing malignant peripheral nerve sheath tumors (MPNSTs) has been estimated to be 8-13%. Such tumors can develop in any part of the body, but their occurrence in the gastrointestinal tract is rare. Patients with NF-1 have a wide spectrum of vascular abnormalities. Cerebrovascular lesions have been found in approximately 2.5% of children with NF1. We encountered a case of NF-1 with MPNSTs in the gastrointestinal tract and moyamoya disease.
___
1. Carli M, Ferrari A, Mattke A, et al. Pediatric malignant peripheral nerve sheath tumor: the Italian and German Soft Tissue Sarcoma Cooperative Group. J Clin Oncol 2005; 23: 8422-8430.
2. Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002; 39: 311- 314.
3. Lee YJ, Moon H, Park ST, et al. Malignant peripheral nerve sheath tumor arising from the colon in a newborn: report of a case and review of the literatures. J Pediatr Surg 2006; 41: e19-e22.
4. Friedrich RE, Hartmann M, Mautner VF. Malignant peripheral nerve sheath tumors (MPNST) in NF1- affected children. Anticancer Res 2007; 27: 1957-1960.
5. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 2010; 12: 1-11
6. Fujimura T, Terui T, Kusaka Y, Tagami H. Neurofibromatosis 1 associated with an intracranial artery abnormality, moyamoya disease and bilateral congenital large hairy pigmented macules. Br J Dermatol 2004; 150: 611-613.
7. Huang L, Espinoza C, Welsh R. Malignant peripheral nerve sheath tumor with divergent differentiation. Arch Pathol Lab Med 2003; 127: e147-e150.
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. Friedrich RE, Kluwe L, Fünsterer C, Mautner VF. Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene. Anticancer Res 2005; 25: 1699-1702.
10. Casanova M, Ferrari A, Spreafico F, et al. Malignant peripheral nerve sheath tumors in children: a singleinstitution twenty-year experience. J Pediatr Hematol Oncol 1999; 21: 509-513.
11. Friedman JM, Arbiser J, Epstein JA. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med 2002; 4: 105- 111.
12. Ghosh PS, Rothner AD, Emch TM, Friedman NR, Moodley M. Cerebral vasculopathy in children with neurofibromatosis type 1. J Child Neurol 2013; 28: 95-101.
13. Cairns AG, North KN. Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry 2008; 79: 1165-1170.
14. Katz DA, Marks MP, Napel SA, Bracci PM, Roberts SL. Circle of Willis: evaluation with spiral CT angiography, MR angiography, and conventional angiography. Radiology 1995; 195: 445-449.