Mutations in a High-Grade Micropapillary Urothelial Carcinoma of the Renal Pelvis: A Case Report

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...

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Detalles Bibliográficos
Autores principales: Uppaluri, Kalyan Ram, Kambalachenu, Himavanth Reddy, Challa, Hima Jyothi, Raghuram Y, Saadvik, Gadicherla, Ramya, Ketavath, Srinivas, Palasamudram, Kalyani, Sri Manjari, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601746/
https://www.ncbi.nlm.nih.gov/pubmed/37900819
http://dx.doi.org/10.1159/000530710
Descripción
Sumario: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.

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