Mikhaylenko Dmitry S, Klimov Alexey V, Matveev Vsevolod B, Samoylova Svetlana I, Strelnikov Vladimir V, Zaletaev Dmitry V, Lubchenko Ludmila N, Alekseev Boris Y, Nemtsova Marina V
Laboratory of Medical Genetics, Institute of Molecular Medicine, Scientific Biotechnological Park of Biomedicine, Sechenov University, Moscow, Russia.
Laboratory of Pathology and Molecular Genetics, N. Lopatkin Institute of Urology and Interventional Radiology - Branch of the National Medical Research Center of Radiology, Moscow, Russia.
Front Oncol. 2020 Jan 21;9:1566. doi: 10.3389/fonc.2019.01566. eCollection 2019.
Hereditary papillary renal carcinoma (HPRC) is a rare autosomal dominant disease characterized by the development of multiple papillary type I renal cell carcinomas. This hereditary kidney cancer form is caused by activating mutations in . Descriptions of patients with HPRC are scarce in the world literature, and no cases have been described in open sources in Russia. Here, we describe a 28-year-old female Russian patient with 7 and 10 primary papillary renal cell carcinomas in the left and right kidneys, respectively. The patient did not have a family history of any of the known hereditary cancer syndromes. A comprehensive medical examination was performed in 2016 including computed tomography and pathomorphological analysis. The observed tumors were resected in a two-step surgical treatment. In February 2019, no sign of disease progression was detected in follow-up medical examination. Molecular genetic analysis revealed the germline heterozygous missense variant in : c.3328G>A (p.V1110I; CM990852). We have discussed the biological effects of the detected mutation and the utility of DNA diagnostics for treating patients with HPRC.
遗传性乳头状肾细胞癌（HPRC）是一种罕见的常染色体显性疾病，其特征是多发I型乳头状肾细胞癌的发生。这种遗传性肾癌形式是由……中的激活突变引起的。世界文献中对HPRC患者的描述很少，俄罗斯的公开资料中也没有相关病例报道。在此，我们描述一名28岁的俄罗斯女性患者，其左肾和右肾分别有7个和10个原发性乳头状肾细胞癌。该患者没有任何已知遗传性癌症综合征的家族史。2016年进行了全面的医学检查，包括计算机断层扫描和病理形态学分析。观察到的肿瘤通过两步手术治疗进行了切除。2019年2月，随访医学检查未发现疾病进展迹象。分子遗传学分析揭示了……中的种系杂合错义变异：c.3328G>A（p.V1110I；CM990852）。我们讨论了检测到的突变的生物学效应以及DNA诊断在治疗HPRC患者中的作用。
