神经纤维瘤病
周围神经鞘恶性肿瘤
医学
神经纤维蛋白1
生殖系
基因型
疾病
基因检测
表型
神经纤维瘤病
癌症
神经鞘肿瘤
种系突变
癌症研究
肿瘤科
生物信息学
内科学
病理
基因
生物
遗传学
突变
作者
Rodrigo Moreno-Salgado,Yanen Zaneli Rios-Lozano,Ana Carolina Tamayo-Palacio,Ana Idalia Yepez Castillo,María Fernanda Hidalgo Martínez
标识
DOI:10.1016/j.cancergen.2023.04.003
摘要
Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome caused by pathogenic variants in NF1, which negatively regulates the RAS pathway. Knowledge of the genotype-phenotype correlation in this disease is an important tool for prognostic evaluation and early detection of malignant peripheral nerve sheath tumors (MPNST), present in approximately 10% of these patients. We present the case of a teenager with a left jaw MPNST and a previously unreported germline pathogenic variant on NF1.An 11-year-old female with a NF1 clinical diagnosis was referred to our hospital with a MPNST in an advanced state. A previously unreported NF1 pathogenic variant was obtained (GRCh37: NM_182493.2 c.3299C>G, p.Ser1100*). Despite great efforts from the surgical and medical teams, the tumor progression couldn't be halted, resulting in the patient's death.As MPNSTs are refractory to current treatment regimens, early diagnosis, and development of new therapies, such as MEK inhibitors, is necessary for reducing morbidity and mortality within NF1 patients. This increases the importance of a more widespread genetic testing strategy.The report of a novel NF1 pathogenic variant in a patient with maternally inherited neurofibromatosis type 1 and a MPNST increases the knowledge of the genotype-phenotype correlation in the disease.
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