Raw sequence reads data from patient with a rare hereditary cancer disease with renal cancer development in case Birt-Hogg-Dube syndrome. Homo sapiens

We report a case study of a rare hereditary cancer disease with renal cancer development in case Birt-Hogg-Dube syndrome(BHDS) in a 26-year-old female patient. Patient was admited to a clinic for diagnosis and treatment with a neoplasm of the left kidney and had a history of renal cell cancer (RCC) of the right kidney and spontaneous pneumothorax. We provided a complex clinical and laboratory testing and demonstrated multiple chromophobe carcinomas of the left kidney and lung cysts, germline nonsense mutation c.1429C>T (p.R477*) in the FLCN gene. The p.R477* mutation has been described by other authors in patients with fibrofolliculomas and lung cysts, but not RCC, while RCC was the first manifestation of BHDS in our case. As far as we know, this case study is the first clinical and genetic examination of a BHDS patient in Russia. The case report may help geneticists and oncologists to better understand the clinical and genetic heterogenity of BHDS.

本研究报告一例26岁女性患者罹患罕见遗传性癌症疾病——伴肾癌发生的伯-霍格-多贝综合征（Birt-Hogg-Dube Syndrome, BHDS）。该患者因左侧肾脏肿瘤就诊于门诊以接受诊断与治疗，既往有右侧肾脏肾细胞癌（renal cell carcinoma, RCC）病史及自发性气胸病史。我们对其实施了全面的临床与实验室检查，确诊其左侧肾脏多发嫌色细胞癌、肺部囊肿，并检出FLCN基因存在胚系无义突变c.1429C>T（p.R477*）。此前已有其他学者报道携带p.R477*突变的患者伴发纤维毛囊瘤与肺部囊肿，但未合并肾细胞癌；而在本病例中，肾细胞癌为伯-霍格-多贝综合征的首发临床表现。据我们所知，本案例为俄罗斯境内首例针对伯-霍格-多贝综合征患者开展的临床与基因检测研究。本病例报告有助于遗传学家与肿瘤学家更深入地理解伯-霍格-多贝综合征的临床与遗传异质性。