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Congress: ECR25
Poster Number: C-12663
Type: Poster: EPOS Radiologist (scientific)
DOI: 10.26044/ecr2025/C-12663
Authorblock: M. D. C. Rodríguez Calvo1, M. I. Martínez León2, L. M. M. Kubandt2, M. A. Pérez Benítez3, I. Hidalgo Hurtado4, C. Madrid Lopez5, C. Osuna Otal5, L. Muñoz Olmo6; 1El Puerto de Santa María/ES, 2MALAGA/ES, 3Conil de la Frontera/ES, 4Jerez de la Frotnera/ES, 5Cadiz/ES, 6San Fernando/ES
Disclosures:
María Del Camino Rodríguez Calvo: Nothing to disclose
María Isabel Martínez León: Nothing to disclose
Leona María Manzano Kubandt: Nothing to disclose
Manuel Alejandro Pérez Benítez: Nothing to disclose
Ildefonso Hidalgo Hurtado: Nothing to disclose
Cesar Madrid Lopez: Nothing to disclose
Cristina Osuna Otal: Nothing to disclose
Luis Muñoz Olmo: Nothing to disclose
Keywords: Musculoskeletal system, Neuroradiology peripheral nerve, Paediatric, CT, MR, Complications, Image compression, Radiation therapy / Oncology, Cancer, Metastases, Neoplasia
Purpose The objective of this article is to explore the characteristics of plexiform neurofibromas (PNF) in neurofibromatosis type 1 (NF1), focusing on their presentation in magnetic resonance imaging (MRI), the alterations they cause (skeletal, cosmetic and others), and their potential for malignant transformation.
Read more Methods and materials NF1 is an autosomal dominant hereditary disorder with an incidence of 1 in 2,000–2,500 live births. Approximately 50% of cases are inherited from an affected parent, while the remaining cases result from mutations in the NF1 gene, including microdeletions in the 17q11.2 region.For clinical diagnosis, a set of recently revised criteria (2021) includes the presence of six or more café-au-lait spots, axillary freckles, bilateral inguinal freckles (ephelides), neurofibromas, optic nerve gliomas, Lisch nodules, bone dysplasias, a relative with NF1, and...
Read more Results Neurofibromas are characteristic of NF1. Cutaneous neurofibromas are present in 95% of patients, although they are not life-threatening. Deep neurofibromas are neoplasms of the peripheral nerve sheath and are divided into nodular neurofibromas (dependent on a single nerve fascicle) and PNF (dependent on several fascicles).PNF are pathognomonic of NF1 and are present in 40–60% of patients. These tumours can affect the skin and subcutaneous tissue, causing aesthetic alterations, or they can involve deeper structures, leading to skeletal changes. On the...
Read more Conclusion NF1 predisposes individuals to the development of neoplasms such as PNF. European guidelines recommend whole-body MRI in asymptomatic patients during early adolescence to detect and monitor tumor growth, reduce morbidity, and identify malignant transformation. PNF causes aesthetic and musculoskeletal alterations, with scoliosis being the most common. MPNSTs are the leading cause of death in NF1 patients, making early detection and management crucial. New medical therapies, such as Selumetinib, have proven effective and present fewer complications compared to surgery.
Read more References Wang MX, Dillman JR, Guccione J, Habiba A, Maher M, Kamel S, Panse PM, Jensen CT, Elsayes KM. Neurofibromatosis from Head to Toe: What the Radiologist Needs to Know. Radiographics. 2022;42:1123-1144. doi: 10.1148/rg.210235. Epub 2022 Jun 24. PMID: 35749292. Panigrahi S, Mishra SS, Das S, Dhir MK. Primary malignant peripheral nerve sheath tumor at unusual location. J Neurosci Rural Pract. 2013;S83-6. doi: 10.4103/0976-3147.116480.  Abbas O, Bhawan J. Cutaneous plexiform lesions. J Cutan Pathol. 2010;37:613-23. doi: 10.1111/j.1600-0560.2010.01529. Carton C, Evans DG, Blanco I, Friedrich...
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