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| Advanced hepatocellular carcinoma in a patient with neurofibromatosis type 1 and malignant peripheral nerve sheath tumor |
| Ahmad Alhaskawi a , # , Yan-Zhao Dong a , # , Xiao-Di Zou a , b , Sohaib Hasan Abdullah Ezzi c , Ze-Wei Wang d , Hai-Ying Zhou a , Sahar Ahmed Abdalbary e , Hui Lu a , ∗ |
a Department of Orthopedics, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China
b Department of Chinese Medicine, the Second Affiliated Hospital, Zhejiang Chinese Medical University, Hangzhou 310005, China
c Department of Orthopedics, the Third Xiangya Hospital, Central South University, Changsha 410083, China
d Zhejiang University School of Medicine, Hangzhou 310000, China
e Department of Orthopedic Physical Therapy, Faculty of Physical Therapy, Nahda University in Beni Suef, Beni Suef, Egypt
∗ Corresponding author.
E-mail address: huilu@zju.edu.cn (H. Lu).
# Contributed equally. |
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Abstract Neurofibromatosis type 1 (NF-1), or Von Recklinghausen disease, is a genetic disorder inherited in an autosomal dominant pattern. It is caused by a mutation in the neurofibromin gene located on chromosome 17, accounting for 96% of all neurofibromatosis cases. This condition can affect multiple systems and often leads to the formation of tumors along the nervous system [1]. Patients with NF-1 may exhibit various symptoms, including Lisch nodules, neurofibromas, scoliosis, café au lait spots, learning disabilities, vision disorders, and epilepsy. There is also an increased risk of malignancy, 5%-15% of individuals with NF-1 developing tumors, most commonly connective tissue and brain tumors [2]. Malignant peripheral nerve sheath tumor (MPNST) is a rare cancer that affects the connective tissue surrounding nerves. Several cases have a history of NF-1 due to the shared mutation on chromosome 17 [3,4]. Recent studies [5,6] suggest that the link between HCC and NF-1 may be attributed to the neurofibromin gene, which negatively regulates the Ras signaling pathway. When this gene is mutated, there is excessive activation of Ras, leading to abnormal guanosine triphosphatase (GTPase) activity which is associated with hepatocarcinogenesis. Here we reported a patient with NF-1 who presented with both MPNST and HCC, providing valuable insight into the rare co-occurrence of these conditions in one individual
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2024, Vol. 23 
