Document Type : Case reports
Authors
1 Student Research Committee, Hamadan University of Medical Sciences, Hamadan, Iran . Universal Scientific Education and Research Network (USERN), Tehran, Iran
2 Department of Anesthesiology, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
3 Department of Pathology, Hamadan University of Medical Sciences, Hamadan, Iran
4 Department of Internal Medicine, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
Abstract
Background: Neurofibromatosis type 1 (NF-1) is a genetic disorder characterized by caf é-au-lait macules, freckling, Lisch nodules, and neurofibromas. NF-1 patients have a special predisposition to tumorigenesis due to genetic mutations, affecting the tumor regulator systems. Malignant Peripheral Nerve Sheet Tumor (MPNST) is a highly aggressive soft tissue tumor that is usually associated with NF-1.
Case presentation: A 32-year-old woman was presented complaining of weakness, severe fatigue, weight loss, peripheral paresthesia, progressive generalized myalgia, bone pain, and a mass sensation in her right thigh since three months ago. She was a known case of NF-1 since childhood. After clinical and radiological evaluation, multiple masses were detected in the retroperitoneal cavity adjacent to the left kidney, uterus, and right thigh. Finally, the patient was planned for surgical excision of two masses with subsequent chemotherapy. Both excised masses were confirmed as MPNSTs by histopathological examination.
Conclusion: Regarding the predisposition of NF-1 patients to tumorigenesis and the high prevalence of peripheral nerve tumors among these patients, any masses changing their character should raise suspicion for malignancy. One of the serious malignant lesions is MPNST. The primary treatment plan for these malignant lesions is surgical excision with subsequent chemotherapy or radiotherapy based on individual characteristics.
Keywords
- Foiadelli T, Naso M, Licari A, Orsini A, Magistrali M, Trabatti C, et al. Advanced pharmacological therapies for neurofibromatosis type 1-related tumors. Acta Biomed. 2020;91(7-S):101-14. doi: 10.23750/abm.v91i7-S.9961. [PubMed: 32608378].
- Bayram T, Bayram D, Tireli H. Neurofibromatosis Type 1-related Multiple Plexiform Neurofibromas: A Case Report. Turk J Neurol. 2020;26(1):42-6. doi: 10.4274/tnd.2019.44520.
- Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 2010;12(1):1-11. doi: 10.1097/GIM.0b013e3181bf15e3. [PubMed: 20027112].
- Xie R, Fu KI, Chen SM, Tuo BG, Wu HC. Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: A case report and review of the literature. World J Gastroenterol. 2018;24(33):3806-12. doi: 10.3748/wjg.v24.i33.3806. [PubMed: 30197486].
- DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3):608-14. doi: 10.1542/peds.105.3.608. [PubMed: 10699117].
- Gilchrist JM, Donahue JE. Peripheral nerve tumors. Waltham, MA: UpToDate; 2022.
- Sharma S, Shah JS, Bali H. Malignant peripheral
- nerve sheath tumor: A rare malignancy. J Oral Maxillofac Pathol. 2020;24(1):86-90. doi: 10.4103/jomfp.JOMFP_9_20. [PubMed: 32189912].
- Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278(1):51-7. [PubMed: 9207339].
- Korf BR, Lobbous M, Metrock LK. Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis. In: Post TW, editor. UpToDate. Waltham, MA: UpToDate; 2022.
- Chaka A, Ennaceur F, Tormen MA, Korbi I, Noomen F, Zouari K. Neurofibromatosis Type I and Stromal Tumor with a multiple digestive localization. Case Rep Surg. 2021;2021:2868966. doi: 10.1155/2021/2868966. [PubMed: 34721919].
- Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152(2):327-32. doi: 10.1002/ajmg.a.33139. [PubMed: 20082463].
- Serdaroglu E, Konuskan B, Karli Oguz K, Gurler G, Yalnizoglu D,
- Anlar B. Epilepsy in neurofibromatosis type 1: Diffuse
- cerebral dysfunction? Epilepsy Behav. 2019;98:6-9. doi: 10.1002/ajmg.a.33139. [PubMed: 20082463].
- Nix JS, Blakeley J, Rodriguez FJ. An update on the central nervous system manifestations of neurofibromatosis type 1. Acta Neuropathol. 2020;139(4):625-41. doi: 10.1007/s00401-019-02002-2. [PubMed: 30963251].
- Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, et al. Prevalence, type, and molecular spectrum of NF1 mutations in patients with neurofibromatosis type 1 and congenital heart disease. Genes (Basel). 2019;10(9):675. doi: 10.3390/genes10090675. [PubMed: 31487937].
- Fossali E, Signorini E, Intermite RC, Casalini E, Lovaria A, Maninetti MM, et al. Renovascular disease and hypertension in children with neurofibromatosis. Pediatr Nephrol. 2000;14(8-9):806-10. doi: 10.1007/s004679900260. [PubMed: 10955932].
- Delucia TA, Yohay K, Widmann RF. Orthopaedic aspects of neurofibromatosis: update. Curr Opin Pediatr. 2011;23(1):46-52. doi: 10.1097/MOP.0b013e32834230ce. [PubMed: 21150444].
- Evans DGR, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002;39(5):311-4. doi: 10.1136/jmg.39.5.311. [PubMed: 12011145].
- Stucky CC, Johnson KN, Gray RJ, Pockaj BA, Ocal IT, Rose PS, et al. Malignant peripheral nerve sheath tumors (MPNST): the Mayo Clinic experience. Ann Surg Oncol. 2012;19(3):878-85. doi: 10.1245/s10434-011-1978-7. [PubMed: 21861229].
- Skovronsky DM, Oberholtzer JC. Pathologic classification of peripheral nerve tumors. Neurosurg Clin N Am. 2004;15(2):157-66. doi: 10.1016/j.nec.2004.02.005. [PubMed: 15177315].
- Natalie Wu LM, Lu QR. Therapeutic targets for malignant peripheral nerve sheath tumors. Future Neurol. 2019;14(1):FNL7. doi: 10.2217/fnl-2018-0026.
', './data/ircmj/coversheet/cover_en.jpg'))