PDF(Pubmed)
Abstract：
The diagnosis of hereditary skin tumors is difficult for \"old\" diagnostic tools such as immunohistochemistry. Whole-exome sequencing analysis as a \"new\" diagnostic tool enables us to make a final diagnosis in spite of unknown hereditary diseases in the past. Hereditary leiomyomatosis and renal cell cancer are autosomal dominant hereditary cancer syndromes characterized by uterine myomas, cutaneous leiomyomas, and aggressive renal cell cancer. The syndrome is associated with pathogenic germline variants in the fumarate hydratase gene. Herein, we demonstrate a pathogenic germline variant of the fumarate hydratase gene in a 60-year-old woman with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer. Whole-exome sequencing analysis using genomic DNA extracted from peripheral blood leukocytes revealed one germline variant in the FH gene on chromosome 1 (c.290G>A, p.Gly97Asp). She received total hysterectomy due to uterine myoma, which strongly supported the diagnosis. No tumor was detected in her kidney by computed tomography and ultrasound examination. Genetic examination for the mutation of the fumarate hydratase gene is important in order to reach the correct diagnosis and to detect renal cancer at its early stage.
摘要：
对于免疫组织化学等“旧”诊断工具，遗传性皮肤肿瘤的诊断很困难。全外显子组测序分析作为一种“新的”诊断工具，使我们能够在过去未知的遗传性疾病的情况下做出最终诊断。遗传性平滑肌瘤和肾细胞癌是以子宫肌瘤为特征的常染色体显性遗传性癌症综合征。皮肤平滑肌瘤,和侵袭性肾细胞癌。该综合征与富马酸水合酶基因的致病性种系变异有关。在这里，我们在一名患有多发性皮肤平滑肌瘤的60岁女性中证明了富马酸水合酶基因的致病性种系变异，导致遗传性平滑肌瘤病和肾细胞癌的诊断。使用从外周血白细胞中提取的基因组DNA进行的全外显子组测序分析显示，1号染色体上的FH基因中有一个种系变异（c.290G>A，p.Gly97Asp)。她因子宫肌瘤接受了全子宫切除术,这强烈支持了诊断。计算机断层扫描和超声检查未在她的肾脏中检测到肿瘤。富马酸水合酶基因突变的遗传检查对于达到正确诊断并在早期检测肾癌很重要。
