Published online Oct 6, 2019. doi: 10.12998/wjcc.v7.i19.3104
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.
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.