TY - JOUR
T1 - Genomic Profile in a Non-Seminoma Testicular Germ-Cell Tumor Cohort Reveals a Potential Biomarker of Sensitivity to Platinum-Based Therapy
AU - González-Barrios, Rodrigo
AU - Alcaraz, Nicolás
AU - Montalvo-Casimiro, Michel
AU - Cervera, Alejandra
AU - Arriaga-Canon, Cristian
AU - Munguia-Garza, Paulina
AU - Hinojosa-Ugarte, Diego
AU - Sobrevilla-Moreno, Nora
AU - Torres-Arciga, Karla
AU - Mendoza-Perez, Julia
AU - Diaz-Chavez, José
AU - Cortes-González, Carlo Cesar
AU - Castro-Hernández, Clementina
AU - Martínez-Cedillo, Jorge
AU - Scavuzzo, Ana
AU - Pérez-Montiel, Delia
AU - Jiménez-Ríos, Miguel A.
AU - Herrera, Luis A.
N1 - Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/5/1
Y1 - 2022/5/1
N2 - Despite having a favorable response to platinum-based chemotherapies, ~15% of Testicular Germ-Cell Tumor (TGCT) patients are platinum-resistant. Mortality rates among Latin American countries have remained constant over time, which makes the study of this population of particular interest. To gain insight into this phenomenon, we conducted whole-exome sequencing, microarraybased comparative genomic hybridization, and copy number analysis of 32 tumors from a Mexican cohort, of which 18 were platinum-sensitive and 14 were platinum-resistant. We incorporated analyses of mutational burden, driver mutations, and SNV and CNV signatures. DNA breakpoints in genes were also investigated and might represent an interesting research opportunity. We observed that sensitivity to chemotherapy does not seem to be explained by any of the mutations detected. Instead, we uncovered CNVs, particularly amplifications on segment 2q11.1 as a novel variant with chemosensitivity biomarker potential. Our data shed light into understanding platinum resistance in a Latin-origin population.
AB - Despite having a favorable response to platinum-based chemotherapies, ~15% of Testicular Germ-Cell Tumor (TGCT) patients are platinum-resistant. Mortality rates among Latin American countries have remained constant over time, which makes the study of this population of particular interest. To gain insight into this phenomenon, we conducted whole-exome sequencing, microarraybased comparative genomic hybridization, and copy number analysis of 32 tumors from a Mexican cohort, of which 18 were platinum-sensitive and 14 were platinum-resistant. We incorporated analyses of mutational burden, driver mutations, and SNV and CNV signatures. DNA breakpoints in genes were also investigated and might represent an interesting research opportunity. We observed that sensitivity to chemotherapy does not seem to be explained by any of the mutations detected. Instead, we uncovered CNVs, particularly amplifications on segment 2q11.1 as a novel variant with chemosensitivity biomarker potential. Our data shed light into understanding platinum resistance in a Latin-origin population.
KW - CGH
KW - CNVs and DNA breakpoints
KW - SNVs
KW - TGCT
KW - WES
KW - platinum-resistance
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U2 - 10.3390/cancers14092065
DO - 10.3390/cancers14092065
M3 - Article
C2 - 35565196
AN - SCOPUS:85128533799
SN - 2072-6694
VL - 14
JO - Cancers
JF - Cancers
IS - 9
M1 - 2065
ER -