Abstract
Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1). This report describes a rare pediatric NF1 case with an unresectable giant mediastinal tumor. Case: A 6-year-old girl with wheezing was admitted to our institution for the further evaluation of a right mediastinal mass on plain chest radiography. On examination, there were multiple cafe au lait spots mainly on the trunk, and a well-defined, immobile, painless mass was palpable on her neck. The mediastinal lesion was detected as nonuniform mass surrounding the aortic arch, pulmonary artery, and right main bronchus on the contrast-enhanced CT and MRI. Open biopsy was useful to rule out malignancy and revealed neurofibroma, and contributed to follow up and treatment. Discussion: Open biopsy was useful to rule out malignancy, such as malignant peripheral nerve sheath tumor, revealed neurofibroma, and also contributed to follow up and treatment. The authors report successful management by open biopsy and discuss several clinical points regarding mediastinal neurofibroma for NF1.
Highlights
IntroductionMutation of the neurofibromatosis type 1 (NF1) gene results in a loss of functional protein, neurofibromin, which is expressed in many tissues, and causes a wide spectrum of clinical findings such as NF1-associated tumors including optic pathway glioma and Malignant Nerve Sheath Tumor (MNST)
Neurofibromatosis type I (NF1) is a genetic disorder
Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1)
Summary
Mutation of the NF1 gene results in a loss of functional protein, neurofibromin, which is expressed in many tissues, and causes a wide spectrum of clinical findings such as NF1-associated tumors including optic pathway glioma and Malignant Nerve Sheath Tumor (MNST). The overall risk of mediastinal tumors is only 2.7% in NF1 patients [1], which are benign of neurofibromas, gliomas, schwannomas, and MPNSTs. Here in, we present a pediatric NF1 case with an unresectable giant mediastinal tumor, which was diagnosed as a neurofibroma. There are some reports that NF1 is rarely associated with resectable mediastinal neurofibroma. This report describes a pediatric NF1 patient with a huge, unresectable mediastinal neurofibroma, which was diagnosed as a neurofibroma on open tumor biopsy. The literature on cases of NF1 with mediastinal neurofibroma is reviewed and the clinical problems associated with this condition are discussed
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
