Neurofibromatosis 1 associated to malignant peripheral nerve sheath tumor: A radiological approach
DOI:
https://doi.org/10.18004/Keywords:
Neurofibromatoses, neurofibrosarcoma, diagnostic imaging, tomography, ParaguayAbstract
Introduction: Introduction: Neurofibromatosis (NF) is characterized by ectodermal abnormality with the presence of multiple neurofibromas throughout the body. The most common form is NF1, which occurs with variable manifestations. Malignant neurilemmoma or peripheral nerve sheath malignant tumor (PNSMT) is one of the tumor formations that can be seen in the context of this pathology. The role of radiology is to characterize the injury and its invasion, as well as to assess the presence of other tumor lesions. Case report: Adult male patient, carrier of Neurofibromatosis type I and hemorrhoids, presented with digestive hemorrhage, so an endoscopy was performed where a prepyloric stenosing lesion was found. A tomographic scan was requested where benign-looking lesions were identified in the liver, both adrenal glands, also a malignant-looking tumor lesion on the left rib cage. Conclusion: An experienced knowledge of the pathology with the radiological findings that are usually observed in these patients are of utmost importance so that the radiologist can know the location of the lesions, both classic and unusual, and orient between a character injury benign with others of malignant character
References
1. Antônio JR, Goloni-Bertollo EM, Trídico LA. Neurofibromatosis: chronological history and current issues. Anais Brasileiros de Dermatologia [Internet]. 2013 [citado 9 mayo 2020];88(3):329-343. Disponible en: https://doi.org/10.1590/abd1806-4841.20132125
2. Borofsky S, Levy LM. Neurofibromatosis: Types 1 and 2. American Journal of Neuroradiology [Internet]. 2013 [citado 9 mayo 2020];34(12):2250-2251. Disponible en: https://doi.org/10.3174/ajnr.A3534
3. Hirbe A, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. The Lancet Neurology [Internet]. 2014 [citado 9 mayo 2020];13(8):834-843. Disponible en: https://doi.org/10.1016/S1474-4422(14)70063-8
4. Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S. An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathologica [Internet]. 2019 [citado 9 mayo 2020]; 139:643-665. Disponible en: https://doi.org/10.1007/s00401-019-02029-5
5. Jouhilahti E-M, Peltonen S, Heape AM, Peltonen J. The Pathoetiology of Neurofibromatosis 1. The American Journal of Pathology [Internet]. 2011 [citado 9 mayo 2020];178(5):1932-1939. Disponible en: https://doi.org/10.1016/j.ajpath.2010.12.056
6. Patil S, Chamberlain RS. Neoplasms Associated with Germline and Somatic NF1 Gene Mutations. The Oncologist [Internet]. 2012 [citado 9 mayo 2020]; 17:101-116. Disponible en: https://doi.org/10.1634/theoncologist.2010-0181
7. Rueda-Arenas E, Pinilla-Orejarena A, García-Corzo JR, Lozano-Ortiz D. Tumor maligno de la vaina del nervio periférico retroperitoneal en un niño preescolar. Boletín médico del Hospital Infantil de México [Internet]. 2016 [citado 9 mayo 2020];73(3):188-195. Disponible en: http://dx.doi.org/10.1016/j.bmhimx.2016.02.004
8. Hekmatnia A, Ghazavi A, Marashi Shooshtari MJ, Hekmatnia F, Basiratnia R. Imaging Review of Neurofibromatosis: Helpful Aspects for Early Detection. Iranian Journal of Radiology [Internet]. 2011 [citado 9 mayo 2020];8(2):63-74. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522317/
9. Fortman BJ, Kuszyk BS, Urban BA, Fishman EK. Neurofibromatosis Type 1: A Diagnostic Mimicker at CT. Radiological Society of North America [Internet]. 2001 [citado 11 mayo 2020];21(3):601-612. Disponible en: https://pubs.rsna.org/doi/10.1148/radiographics.21.3.g01ma05601
10. Yong-hui Y, Jing-tao W, Jing Ye, Ming-xiang Ch. Radiological findings of malignant peripheral nerve sheath tumor: reports of six cases and review of literature. World J Surg Oncol [Internet]. 2016 May [citado 20 Abr 2018];14(1): [aprox. 8 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862189/
11. O’Brien WT. Neuroimaging Manifestations of NF1 - A Pictorial Review. Journal of the American Osteopatic College of Radiology [Internet]. 2015 [citado 11 mayo 2020];4(2):16-21. Disponible en: https://www.jaocr.org/articles/neuroimaging-manifestations-of-nf1-a-pictorial-review
12. Ren J, Yang G, Zhou J, Fu Z. The value of 18F-FDG PET/CT in patient with neurofibromatosis type 1: A case report and literature review. Medicine [Internet]. 2018 [citado 15 mayo 2020];97(20):1-3. Disponible en: https://journals.lww.com/md-journal/Fulltext/2018/05180/The_value_of_18F_FDG_PET_CT_in_patient_with.11.aspx
13. Guajardo-Hernández U, Droguett-Mallea M, Mansilla-Espinoza J, Guajardo-Beroíza U. Tumor maligno de vaina de nervio periférico. Reporte de caso. Revista Chilena de Neurocirugía [Internet]. 2014 [citado 25 abril 2020];40(1):42-4. Disponible en: https://www.neurocirugiachile.org/pdfrevista/v40_n1_2014/guajardo_42_v40n1_2014.pdf
14. Patel NB, Stacy GS. Musculoskeletal Manifestations of Neurofibromatosis Type 1. American Journal of Roentgenology [Internet]. 2012 [citado 25 abril 2020];199(1):99-106. Disponible en: https://www.ajronline.org/doi/10.2214/AJR.11.7811
15. Toapanta-Yanchapaxi L, Chablé-Montero F, Téllez-Ávila F. Neurofibromatosis y tumor estromal gastrointestinal diagnosticado por enteroscopia anterógrada. Reporte de caso. Endoscopía [Internet]. 2015 [citado 11 mayo 2020];27(1):45-48. Disponible en: https://www.elsevier.es/es-revista-endoscopia-335-articulo-neurofibromatosis-tumor-estromal-gastrointestinal-diagnosticado-S0188989315000287
16. Valle Rubén, Valencia Víctor, Huamán-Muñante José. Neurofibromatosis tipo 1 asociado a tumor maligno de la vaina de nervio periférico y a carcinoma de colon. Anales de la Facultad de Medicina [Internet]. 2009 [citado 11 mayo 2020];70(3): 211-216. Disponible en: http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S1025-55832009000300010
17. Jiménez Caballero P, López Espuela F, Romero Sevilla R, Fermín Marrero J, Casado Naranjo I. Manifestaciones clínicas y neurorradiológicas en los adultos con neurofibromatosis tipo 1. Neurología [Internet]. 2013 [citado 11 mayo 2020];28(6):361-365. Disponible en: https://www.elsevier.es/es-revista-neurologia-295-articulo-manifestaciones-clinicas-neurorradiologicas-adultos-con-S021348531200268X
