Mutational Landscape of Bladder Cancer in Mexican Patients: <i>KMT2D</i> Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion
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 bl...
| Main Authors: | , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-01-01
|
| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/24/2/1092 |
| _version_ | 1797441596884516864 |
|---|---|
| author | María D. Pérez-Montiel Dennis Cerrato-Izaguirre Yesennia Sánchez-Pérez Jose Diaz-Chavez Carlo César Cortés-González Jairo A. Rubio Miguel A. Jiménez-Ríos Luis A. Herrera Anna Scavuzzo Abelardo Meneses-García Ricardo Hernández-Martínez Felipe Vaca-Paniagua Andrea Ramírez Alicia Orozco David Cantú-de-León Diddier Prada |
| author_facet | María D. Pérez-Montiel Dennis Cerrato-Izaguirre Yesennia Sánchez-Pérez Jose Diaz-Chavez Carlo César Cortés-González Jairo A. Rubio Miguel A. Jiménez-Ríos Luis A. Herrera Anna Scavuzzo Abelardo Meneses-García Ricardo Hernández-Martínez Felipe Vaca-Paniagua Andrea Ramírez Alicia Orozco David Cantú-de-León Diddier Prada |
| author_sort | María D. Pérez-Montiel |
| collection | DOAJ |
| description | 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 bladder cancer (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 exome sequenced. 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 <i>TP53</i> and <i>KMT2D</i>, gains in 11q15.5 and 19p13.11-q12, and losses in 7q11.23. <i>STAG2</i> mutations and 1q11.23 deletions were also associated with NMIBC and low histologic grade. |
| first_indexed | 2024-03-09T12:25:27Z |
| format | Article |
| id | doaj.art-1a98f05559194bfc857e51e71ca25fae |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T12:25:27Z |
| publishDate | 2023-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-1a98f05559194bfc857e51e71ca25fae2023-11-30T22:35:17ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-01-01242109210.3390/ijms24021092Mutational Landscape of Bladder Cancer in Mexican Patients: <i>KMT2D</i> Mutations and chr11q15.5 Amplifications Are Associated with Muscle InvasionMaría D. Pérez-Montiel0Dennis Cerrato-Izaguirre1Yesennia Sánchez-Pérez2Jose Diaz-Chavez3Carlo César Cortés-González4Jairo A. Rubio5Miguel A. Jiménez-Ríos6Luis A. Herrera7Anna Scavuzzo8Abelardo Meneses-García9Ricardo Hernández-Martínez10Felipe Vaca-Paniagua11Andrea Ramírez12Alicia Orozco13David Cantú-de-León14Diddier Prada15Departamento de Patología, Instituto Nacional de Cancerología (INCan), Mexico City 14080, MexicoDepartamento de Farmacología, Centro de Investigación y de Estudios Avanzados del I.P.N. (CINVESTAV), Avenida Instituto Politécnico Nacional No. 2508, Mexico City 07360, MexicoSubdirección de Investigación Básica, Instituto Nacional de Cancerología (INCan), San Fernando No. 22, Tlalpan, Mexico City 14080, MexicoSubdirección de Investigación Básica, Instituto Nacional de Cancerología (INCan), San Fernando No. 22, Tlalpan, Mexico City 14080, MexicoSubdirección de Investigación Básica, Instituto Nacional de Cancerología (INCan), San Fernando No. 22, Tlalpan, Mexico City 14080, MexicoSubdirección de Investigación Básica, Instituto Nacional de Cancerología (INCan), San Fernando No. 22, Tlalpan, Mexico City 14080, MexicoDepartamento de Urología, Instituto Nacional de Cancerología (INCan), Mexico City 14080, MexicoDirección General, Instituto Nacional de Medicina Genómica, Mexico City 14610, MexicoDepartamento de Urología, Instituto Nacional de Cancerología (INCan), Mexico City 14080, MexicoDirección GENERAL, Instituto Nacional de Cancerología (INCan), Mexico City 14080, MexicoSubdirección de Investigación Básica, Instituto Nacional de Cancerología (INCan), San Fernando No. 22, Tlalpan, Mexico City 14080, MexicoLaboratorio Nacional en Salud, Diagnóstico Molecular y Efecto Ambiental en Enfermedades Crónico-Degenerativas, Facultad de Estudios Superiores Iztacala, Tlalnepantla 54090, MexicoUnidad de Apoyo Molecular a la Investigación Clínica, Instituto Nacional de Cancerología (INCan), San Fernando No. 22, Tlalpan, Mexico City 14080, MexicoUnidad de Apoyo Molecular a la Investigación Clínica, Instituto Nacional de Cancerología (INCan), San Fernando No. 22, Tlalpan, Mexico City 14080, MexicoDirección de Investigación, Instituto Nacional de Cancerología (INCan), Mexico City 14080, MexicoSubdirección de Investigación Básica, Instituto Nacional de Cancerología (INCan), San Fernando No. 22, Tlalpan, Mexico City 14080, MexicoBladder 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 bladder cancer (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 exome sequenced. 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 <i>TP53</i> and <i>KMT2D</i>, gains in 11q15.5 and 19p13.11-q12, and losses in 7q11.23. <i>STAG2</i> mutations and 1q11.23 deletions were also associated with NMIBC and low histologic grade.https://www.mdpi.com/1422-0067/24/2/1092bladder cancerHispanicsMexican populationmutationscancer genomicsnon-muscle invasive bladder cancer |
| spellingShingle | María D. Pérez-Montiel Dennis Cerrato-Izaguirre Yesennia Sánchez-Pérez Jose Diaz-Chavez Carlo César Cortés-González Jairo A. Rubio Miguel A. Jiménez-Ríos Luis A. Herrera Anna Scavuzzo Abelardo Meneses-García Ricardo Hernández-Martínez Felipe Vaca-Paniagua Andrea Ramírez Alicia Orozco David Cantú-de-León Diddier Prada Mutational Landscape of Bladder Cancer in Mexican Patients: <i>KMT2D</i> Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion International Journal of Molecular Sciences bladder cancer Hispanics Mexican population mutations cancer genomics non-muscle invasive bladder cancer |
| title | Mutational Landscape of Bladder Cancer in Mexican Patients: <i>KMT2D</i> Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion |
| title_full | Mutational Landscape of Bladder Cancer in Mexican Patients: <i>KMT2D</i> Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion |
| title_fullStr | Mutational Landscape of Bladder Cancer in Mexican Patients: <i>KMT2D</i> Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion |
| title_full_unstemmed | Mutational Landscape of Bladder Cancer in Mexican Patients: <i>KMT2D</i> Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion |
| title_short | Mutational Landscape of Bladder Cancer in Mexican Patients: <i>KMT2D</i> Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion |
| title_sort | mutational landscape of bladder cancer in mexican patients i kmt2d i mutations and chr11q15 5 amplifications are associated with muscle invasion |
| topic | bladder cancer Hispanics Mexican population mutations cancer genomics non-muscle invasive bladder cancer |
| url | https://www.mdpi.com/1422-0067/24/2/1092 |
| work_keys_str_mv | AT mariadperezmontiel mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT denniscerratoizaguirre mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT yesenniasanchezperez mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT josediazchavez mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT carlocesarcortesgonzalez mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT jairoarubio mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT miguelajimenezrios mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT luisaherrera mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT annascavuzzo mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT abelardomenesesgarcia mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT ricardohernandezmartinez mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT felipevacapaniagua mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT andrearamirez mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT aliciaorozco mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT davidcantudeleon mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion AT diddierprada mutationallandscapeofbladdercancerinmexicanpatientsikmt2dimutationsandchr11q155amplificationsareassociatedwithmuscleinvasion |