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BMC Cancer
Published in: BMC Cancer 1/2023

Open Access 01-12-2023 | Research

Genomic landscapes of ovarian clear cell carcinoma from latin countries reveal aberrations linked to survival and progression

Authors: Mariana de Paiva Batista, Martín Roffé, Ignacio Romero, José Antonio López-Guerrero, Carmen Illueca, Raquel Lopez, Alexandre André Balieiro Anastácio da Costa, Louise De Brot, Juan Pablo Molina, Laura Barboza, Fernanda Maris Peria, Fernando Chaud, Ana Silvia Gouvêa Yamada, Andres Poveda, Eduardo Magalhães Rego

Published in: BMC Cancer | Issue 1/2023

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Abstract

Background

Ovarian clear cell carcinomas (OCCCs) are rare, aggressive and chemoresistant tumors. Geographical and ethnic differences in the incidence of OCCC have been reported with a higher incidence in Asiatic countries. There is a paucity of information regarding OCCC in Latin America (LA) and other countries.

Methods

Here, we characterized two cohorts of 33 patients with OCCC from LA (24 from Brazil and 9 from Costa Rica) and a cohort of 27 patients from Spain. Genomic analysis was performed for 26 OCCC using the OncoScan platform. Tumors were classified according to their genomic landscapes into subgroups. Clinical parameters were related to the frequency of genomic aberrations.

Results

The median overall survival (OS) was not significantly different between the cohorts. Genomic landscapes were characterized by different homologous recombination deficiency (HRD) levels. No difference in the distribution of genomic landscapes profiles was detected between patients from the different cohorts. OCCCs with MYC-amplified tumors harboring a concomitant loss of a region in chromosome 13q12-q13 that includes the BRCA2 gene had the longest OS. In contrast, patients carrying a high number (> 30) of total copy number (CN) aberrations with no concomitant alterations in MYC and BRCA2 genes presented the shortest OS. Furthermore, amplification of the ASH1L gene was also associated with a shorter OS. Initial-stage OCCCs with early progression were characterized by gains in the JNK1 and MKL1 genes.

Conclusions

Our results provide new data from understudied OCCC populations and reveal new potential markers for OCCCs.
Appendix
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Metadata
Title
Genomic landscapes of ovarian clear cell carcinoma from latin countries reveal aberrations linked to survival and progression
Authors
Mariana de Paiva Batista
Martín Roffé
Ignacio Romero
José Antonio López-Guerrero
Carmen Illueca
Raquel Lopez
Alexandre André Balieiro Anastácio da Costa
Louise De Brot
Juan Pablo Molina
Laura Barboza
Fernanda Maris Peria
Fernando Chaud
Ana Silvia Gouvêa Yamada
Andres Poveda
Eduardo Magalhães Rego
Publication date
01-12-2023
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2023
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-023-11095-8

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