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Archives of Medical Science
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vol. 16
Letter to the Editor

Neurofibromatosis type I-associated malignant peripheral nerve sheath tumors: a case report and literature review

Yibo Wu
Wendan Cheng
Xin Zhang
Ziyu Li
Yanchang Liu
Wenyi Bai

Department of Orthopedics, The Second Hospital of Anhui Medical University, Hefei, China
Arch Med Sci 2020; 16 (6): 1476–1482
Online publish date: 2020/11/02
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Neurofibromatosis type I (NF1) is an autosomal dominant genetic disease caused by a mutation in the neurofibromin 1 gene located on chromosome 17q11.2 [1]. About 50% of patients have a clear family history, while the rest are sporadic or due to radiation [2]. Patients with NF1 also have an increased risk of developing a variety of tumors, including malignant peripheral nerve sheath tumor (MPNST), pheochromocytoma, leukemia, glioma and rhabdomyosarcoma [3]. MPNST is a highly malignant tumor that is closely related to NF1. In NF1 patients, the lifetime risk of MPNST is 8% to 13% [4]. The recovery from NF1-associated MPNST is worse than the sporadic or radiation-related form [5]. Meanwhile, it will also increase the economic and psychological burdens of patients. Therefore, patients with a severe psychological burden should also seek psychological counseling and life help [6].
In this article, we report a case of NF1-associated MPNST in a young man, along with a review of relevant literature. A year ago, a 26-year-old young man discovered a mass on the proximal lateral side of the right thigh. The mass was significantly enlarged, and its growth accelerated 5 months ago. The patient was hospitalized due to the large tumor and pain. This patient had a family history of NF1. According to the patient’s family, the patient’s mother was diagnosed with multiple malignant tumors of the digestive tract and died as a result. She had NF1 mutations confirmed by sequencing before she died. This time, we also sequenced the patient’s 2 uncles (his mother’s 2 brothers), and through genetic sequencing, we found that the patient’s 2 uncles also have NF1 gene mutations. The patient’s 2 uncles showed a large number of masses on the body surface. His grandfather (mother’s father) had egg-sized lumps on his head when he was young and was diagnosed with NF1, had a surgical resection and no recurrence afterwards. At the time of this study, he was too old to participate (Figure 1). The patient’s physical examination showed scoliosis, multiple cafe-au-lait spots of different sizes all over the body, a huge mass on the lateral side of the right thigh, with medium texture, general mobility and obvious skin veins on the surface of the mass, which had a size of 50 × 33 × 32 cm (Figures 2 A, B). The neurological examination showed no obvious symptoms. Magnetic resonance imaging (MRI) of the right thigh revealed a large soft tissue mass...

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