遗传学
神经纤维瘤病
突变
体细胞
2型神经纤维瘤病
基因突变
种系突变
基因
生物
作者
Soo Jin Yoo,Yong Woo Hwang
出处
期刊:Clinical Laboratory
[Clinical Laboratory Publications]
日期:2020-01-01
卷期号:66 (11/2020)
标识
DOI:10.7754/clin.lab.2020.200403
摘要
Background Neurofibromatosis (NF) is a genetic disorder, and neurofibromatosis types 1 and 2 have different genetic and clinical features. Herein, we present the clinical and genetic aspects of a patient carrying a constitutional NF1 gene mutation and whose neurocutaneous manifestations suggested a NF type 2 (NF2). Methods A 55-year-old woman presented with headache and deterioration of vision. Physical examination and radiologic findings revealed multiple subcutaneous nodules and multiple intracranial and spinal masses which were suspected to be NF2. Results Genomic DNA sequencing using a peripheral blood sample revealed a splicing mutation in the NF1 gene. Tumor resection and biopsy revealed intracranial meningiomas and paraspinal Schwannoma compatible with NF2. PCR-direct sequencing using tumor tissue samples showed pathogenic somatic mutation of the NF2 gene. Conclusions We report a case of NF2 presenting with a pathogenic somatic mutation in the NF2 gene in a woman harboring a germline splicing mutation in the NF1 gene. This case emphasizes the importance of sequence analy¬sis by using tumor tissues and the need to elucidate the role of a NF1 splicing mutation.
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