PDF(Pubmed)
Abstract：
Micropapillary urothelial carcinoma (MPUC) of the renal pelvis is an upper tract urothelial carcinoma originating in the renal pelvis region. Few genetic studies are available, and the mechanism of pathogenesis of genetically driven models is unclear. We report a case of genomic alterations in MPUC of the renal pelvis and compare the results with existing literature. DNA was extracted, followed by the next-generation sequencing of 351 oncogenes and tumor suppressor genes. Targeted gene sequencing analysis revealed somatic variants in ERBB2, KMT2C, FOXA1, and germline variants in CDKN1B, ELF3, TP53, and RB1 genes. The present case study sheds light on recognizing genetic variants in high-grade MPUC of the renal pelvis. Understanding molecular mechanisms helps with better prognostication and development of more effective therapeutics and treatment.
摘要：
肾盂微乳头状尿路上皮癌（MPUC）是起源于肾盂区域的上尿路上皮癌。很少有基因研究，基因驱动模型的发病机制尚不清楚。我们报告了一例肾盂MPUC的基因组改变，并将结果与现有文献进行了比较。提取DNA,其次是351个癌基因和抑癌基因的下一代测序。靶向基因测序分析显示ERBB2，KMT2C，FOXA1和CDKN1B中的种系变体，ELF3、TP53和RB1基因。本案例研究揭示了识别肾盂高级别MPUC中的遗传变异。了解分子机制有助于更好地预测和开发更有效的疗法和治疗方法。
