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Archives of Medical Science
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6/2020
vol. 16
 
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Neurology
abstract:
Letter to the Editor

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

Yibo Wu
1
,
Wendan Cheng
1
,
Xin Zhang
1
,
Ziyu Li
1
,
Yanchang Liu
1
,
Wenyi Bai
1

1.
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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