Wang Y, Lu XF, Chen LL, Zhang YW, Zhang B. Multiple neurofibromas plus fibrosarcoma with familial NF1 pathogenicity: A case report. World J Clin Cases 2020; 8(7): 1306-1310 [PMID: 32337207 DOI: 10.12998/wjcc.v8.i7.1306]
Corresponding Author of This Article
Bing Zhang, MD, PhD, Chief Doctor, Director, Doctor, Department of Radiology, the Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing 210008, Jiangsu Province, China. zhangbing2019214@163.com
Research Domain of This Article
Clinical Neurology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Apr 6, 2020; 8(7): 1306-1310 Published online Apr 6, 2020. doi: 10.12998/wjcc.v8.i7.1306
Multiple neurofibromas plus fibrosarcoma with familial NF1 pathogenicity: A case report
Yang Wang, Xiao-Fan Lu, Lu-Lu Chen, Ying-Wei Zhang, Bing Zhang
Yang Wang, Bing Zhang, Department of Radiology, The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, Jiangsu Province, China
Xiao-Fan Lu, Research Center of Biostatistics and Computational Pharmacy, China Pharmaceutical University, Nanjing 210009, Jiangsu Province, China
Lu-Lu Chen, Ying-Wei Zhang, Department of Respiration, The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, Jiangsu Province, China
Author contributions: Wang Y, Chen LL and Zhang YW were the patient’s respiratory physicians and radiologist, they reviewed the literature and contributed to manuscript drafting; Wang Y and Lu XF reviewed the literature and contributed to manuscript drafting and interpreted the imaging findings; Wang Y, Zhang YW and Zhang B were responsible for revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted; Wang Y and Lu XF contributed equally.
Informed consent statement: The study participant or the legal guardian provided informed written consent about personal and medical data collection prior to study enrolment.
Conflict-of-interest statement: There is no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Bing Zhang, MD, PhD, Chief Doctor, Director, Doctor, Department of Radiology, the Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing 210008, Jiangsu Province, China. zhangbing2019214@163.com
Received: November 11, 2019 Peer-review started: November 11, 2019 First decision: January 19, 2020 Revised: February 26, 2020 Accepted: February 28, 2020 Article in press: February 28, 2020 Published online: April 6, 2020 Processing time: 147 Days and 4.3 Hours
Abstract
BACKGROUND
Neurofibromatosis (NF) is a genetic disease consisting of seven types, of which types 1 to 4 are caused by a dominant autosomal gene mutation; such disease sometimes arises in patients with NF type 1. However, it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1, as no reports have been published on this issue. Here, we report a case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.
CASE SUMMARY
A 51-year-old male was admitted to our hospital due to fever accompanied by coughing, chest tightness and asthma for more than one month. The preliminary diagnosis was NF type 1, which was pathologically confirmed by a subsequent thoracoabdominal subcutaneous biopsy. The definitive diagnosis was neurofibrosarcoma with a pathogenic NF1 gene. The patient refused surgery and chemoradiotherapy, and died two months later. NF is a genetic disease consisting of seven types, of which types 1 to 4 are caused by a dominant autosomal gene mutation. The case reported belongs to the class of NF1-positive dominant inheritance. Neurofibrosarcoma is a malignant tumor derived from cells surrounding the peripheral nerves. However, due to the lack of previous reports, it remains unclear whether the origin of neurofibrosarcoma is directly linked to the incidence of NF type 1.
CONCLUSION
We report the first case of NF1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.
Core tip: Neurofibromatosis is a genetic disease with 7 types, of which type 1 to 4 are caused by dominant gene mutation on the autosome. Neurofibrosarcoma is a malignant tumor derived from cells surrounding the peripheral nerves, usually found in the limbs but seldom metastasizing to other parts of the body, although it may reach the lungs by extensive spread along nerve tissues. It mostly affects young and middle-age adults, and sometimes arises in patients with neurofibromatosis type 1. We herein, report the first case of neurofibromatosis type 1-positive multiple neurofibromas with malignant fibrosarcomatous transformation in the pleural cavity.
