Background: 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.
Case summary: 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.
Conclusion: 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: Case report; Crizotinib; Neurofibromatosis; Spindle cell sarcoma; Targeted therapy; Type I.
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