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Neurofibromatosis Type 1 with Neck and Thoraco-Abdominal Involvement: A Case Series Showing Different Localization and MRI Features

Authors Tortora S, Esposito A, Della Pepa G, Paternò M, Cagnoli GA, Cesaretti C, Natacci F, Carrafiello G

Received 22 January 2021

Accepted for publication 18 March 2021

Published 6 April 2021 Volume 2021:14 Pages 41—51

DOI https://doi.org/10.2147/RMI.S300065

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Professor Tarik Massoud


Silvia Tortora,1 Andrea Esposito,2 Gianmarco Della Pepa,1 Michele Paternò,1 Giulia Anna Cagnoli,3 Claudia Cesaretti,3 Federica Natacci,3 Gianpaolo Carrafiello2

1School of Diagnostic and Interventional Radiology, University of Milan, Milan, 20122, Italy; 2Radiology Department, Foundation IRCCS Ca’ Granda Maggiore Policlinico Hospital, Milan, 20122, Italy; 3Medical Genetics Unit, Woman-Child-Newborn Department, Foundation IRCCS Ca’ Granda Maggiore Policlinico Hospital, Milan, 20122, Italy

Correspondence: Silvia Tortora
School of Diagnostic and Interventional Radiology, University of Milan, Via Festa del Perdono 7, Milan, 20122, Italy
Email [email protected]
Andrea Esposito
Radiology Department, Foundation IRCCS Ca’ Granda Maggiore Policlinico Hospital, Via F. Sforza 35, Milan, 20122, Italy
Email [email protected]

Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by the mutation of the tumour suppressor gene NF1 located on chromosome 17q11.2, occurring in approximately 1 in 2000– 2500 people. The diagnosis of NF1 is made according to the presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference. We present six cases of NF1 with neck and thoraco-abdominal involvement that we studied with MRI. The patients we present in this case series are asymptomatic and have in common the presence of multiple neurofibromas ubiquitously distributed in various body districts, including nerve roots, mediastinum, abdominal cavity, skin and subcutaneous tissue. Currently, there are no clear indications on the use of imaging in the diagnosis and follow-up of patients with NF1, although there is increasing evidence of the usefulness of imaging techniques and in particular of MRI. MRI with DWI and ADC mapping is a technique that should be proposed as a new standard of care for patients with NF1 since it can be used to distinguish a benign from a malignant tumour in relation to tumour size and ADC map values.

Keywords: neurofibromatosis 1, neurofibroma, plexiform neurofibroma, nerve sheath tumour, magnetic resonance imaging

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