Hereditary spinal schwannomas disease: a report for pedigree cases

作者：Xie, Chao; Xu, Xiangming; Zou, Xiandian; Lu, Mingnan; Mei, Chuanlin; Zhang, Yishan; Guo, Weitao^*; Zhou, Yingjie^*

来源：International Journal of Clinical and Experimental Medicine, 2016, 9(3): 5728-5736.

• Schwannomas
• schwannomas disease
• diagnostic criteria
• Non vestibular schwannoma
• SMARCB1
• NF2
• genic mutation

A 33-year-old male patient was found in clinic, which was hospitalized for surgical treatments due to the multiple tumors in vertebral canal. The earliest onset of the disease for him occurred when he was 19 years old. Up to now, he has been performed 7 times of surgical treatment. Tracing his family history, the pedigree contains 48 members. According to the diagnostic criteria proposed by Macollin and the International Schwannomatosis Workshop in 2011, nine patients were diagnosed (five died), and two were suspected patients. Meanwhile, neither neurofibromatosis type I with cafe au lait spots on the skin, nor multiple neurofibromatosis type II history with vestibular nerve function deficiency or hearing impairment was found in the pedigree. The vestibular nerve space occupying lesion was also not found in cranial MRI examination. The excisional tumor was confirmed to be schwannomas by pathological examination. The preliminary gene sequencing for the NF2 and SMARCB1 gene demonstrated that there was a missense mutation (C.593G -> A) in exon 6 codon 198 in blood of the proband (III:1), a nonsense mutation (AAG -> TAA) in exon 4 codon 149 in blood of II:5 and II:2, a missense mutation (C.593G -> A) in exon 6 codon 198 in tumor tissue of III:1, and a missense mutation (C.119T -> G) in exon 2 codon 40 in tumor of III:2. The synonymous mutation (C.93G -> A) in exon 1 codon 31 of the SMARCB1 gene was detected in the tumor and blood samples from many members of this pedigree. Hence, this family could be confirmed to be a certain hereditary spinal schwannoma pedigree and the synonymous mutation (C.93G -> A) in exon 1 codon 31 of the SMARCB1 gene may be the hereditary disease causing mutation.

• 出版日期2016
• 单位广东医科大学