Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 6, 2019; 7(19): 3104-3110
Published online Oct 6, 2019. doi: 10.12998/wjcc.v7.i19.3104
Type I neurofibromatosis with spindle cell sarcoma: A case report
Yu Zhang, Jiao-Jiao Chao, Xiu-Feng Liu, Shu-Kui Qin
Yu Zhang, Jiao-Jiao Chao, BaYi Hospital Affiliated to Nanjing University of Chinese Medicine, Nanjing University of Chinese Medicine, Nanjing 210000, Jiangsu Province, China.
Xiu-Feng Liu, Shu-Kui Qin, Department of Oncology, BaYi Hospital Affiliated to Nanjing University of Chinese Medicine, Nanjing 210000, Jiangsu Province, China.
Author contributions: Zhang Y and Chao JJ collected the data; Zhang Y, Chao JJ, and Liu XF wrote the paper; Qin SK proofread the paper.
Informed consent statement: Informed written consent was obtained from the patient.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: 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:
Corresponding author: Shu-Kui Qing, MD, Chief Doctor, Professor, Medical Oncology Department, PLA Cancer Center, Nanjing Bayi Hospital, Department of Oncology, the 81 Hospital of the Chinese People’s Liberation Army, No. 34 Yanggongjing Street, Nanjing 210002, Jiangsu Province, China.
Telephone: +86-25-84453932 Fax: +86-25-84453906
Received: June 11, 2019
Peer-review started: June 19, 2019
First decision: August 1, 2019
Revised: September 8, 2019
Accepted: September 11, 2019
Article in press: September 11, 2019
Published online: October 6, 2019

Neurofibromatosis type I (NF1) is the most frequent subtype of neurofibromatosis. Its related tumor-suppressor syndromes are characterized by a predisposition to multiple tumor types and other disorder presentations. In addition, the incidence of tumors is much higher in patients with neurofibromatosis type I. However, there are very few reports at home and abroad on this topic. Here, we present a case of NF1 with spindle cell sarcoma.


A 50-year-old male was found to have a right axillary mass for 20 years. Specialist examination found cafe-au-lait spots on many parts of the skin, rounded nodules in the skin, a bulge in the right armpit, touching a lump (10 cm × 6 cm, hard, unclear boundary, poor mobility, local tenderness). The anterior side of the thigh felt weakened on the opposite side; in the right groin a swollen lymph node (hard, clear border, good mobility, local tenderness). According to the results of positron emission tomography/computed tomography, puncture pathology and immunohistochemistry, genetic testing, a diagnosis of NF1 with spindle cell sarcoma was confirmed. According to the genetic testing result, the patient was given a targeted treatment with crizotinib.


Surgery, chemotherapy and radiotherapy are the main treatment methods of NF1. However, with the continuous progress of molecular biology research, molecular targeted therapy may bring benefits for patients.

Keywords: Neurofibromatosis, Type I, Spindle cell sarcoma, Targeted therapy, Crizotinib, Case report

Core tip: Neurofibromatosis type I with malignant tumor is very rare. Because of its rarity in clinical practice, there are many uncertainties in the selection of treatment regimens. Therefore, it is necessary to study the effective and reasonable standard treatment regimens. We present a case of neurofibromatosis type I with soft tissue sarcoma. Since there is limited evidence of targeted therapy for this disease, the selection of treatment strategies should be based on rich clinical experience and research.