Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and Chr11q15.5 Amplifications are Associated with Muscle Invasion

María Delia Pérez-Montiel
,
Dennis Cerrato-Izaguirre
ORCID logo ,
Yesennia Sánchez-Pérez
,
José Díaz-Chávez
,
Carlo César Cortés-González
ORCID logo ,
Jairo Aarón Rubio-Cordero
,
Miguel Angel Jiménez-Ríos
,
Luis A. Herrera
,
Anna Scavuzzo
,
Abelardo Meneses-García
,
Ricardo Hernández-Martínez
ORCID logo ,
Felipe Vaca-Paniagua
ORCID logo ,
Andrea Ramírez
,
Alicia Orozco-Mora
,
David Cantú de León
,
Diddier Prada
*
Version 1 : Received: 23 October 2022 / Approved: 31 October 2022 / Online: 31 October 2022 (02:27:54 CET)

A peer-reviewed article of this Preprint also exists.

Pérez-Montiel, M.D.; Cerrato-Izaguirre, D.; Sánchez-Pérez, Y.; Diaz-Chavez, J.; Cortés-González, C.C.; Rubio, J.A.; Jiménez-Ríos, M.A.; Herrera, L.A.; Scavuzzo, A.; Meneses-García, A.; Hernández-Martínez, R.; Cantú-de-León, D.; Vaca-Paniagua, F.; Ramírez, A.; Orozco, A.; Prada, D. Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion. Int. J. Mol. Sci. 2023, 24, 1092. Pérez-Montiel, M.D.; Cerrato-Izaguirre, D.; Sánchez-Pérez, Y.; Diaz-Chavez, J.; Cortés-González, C.C.; Rubio, J.A.; Jiménez-Ríos, M.A.; Herrera, L.A.; Scavuzzo, A.; Meneses-García, A.; Hernández-Martínez, R.; Cantú-de-León, D.; Vaca-Paniagua, F.; Ramírez, A.; Orozco, A.; Prada, D. Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion. Int. J. Mol. Sci. 2023, 24, 1092.

Abstract

Bladder cancer (BC) is the most common neoplasm of the urinary tract, which originates in the epithelium that covers the inner surface of the bladder. The molecular BC profile has led to the development of different classifications of non-muscle invasive bladder cancer (NMIBC) and muscle-invasive (MIBC). However, the genomic BC landscape profile of the Mexican population, including NMIBC and MIBC, is unknown. In this study, we aimed to identify somatic single nucleotide variants (SNVs) and copy number variations (CNVs) in Mexican patients with BC and their associations with clinical and pathological characteristics. We retrospectively evaluated 37 patients treated between 2012 and 2021 at the National Cancer Institute - Mexico (INCan). DNA samples were obtained from paraffin-embedded tumor tissues and ran exome sequencing. Strelka2 and Lancet packages were used to identify SNVs and insertions or deletions. FACETS was used to determine CNVs. We found a high frequency of mutations in TP53 and KMT2D, gains in 11q15.5 and 19p13.11-q12, and losses in 7q11.23. STAG2 mutations and 1q11.23 deletions were also associated with NMIBC and low histologic grade.

Keywords

Bladder cancer; Hispanics; Mexicans population; Mutations; Cancer genomics; non-muscle inva-sive bladder cancer; muscle-invasive bladder cancer

Subject

Medicine and Pharmacology, Oncology and Oncogenics

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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