Genomic landscapes of ovarian clear cell carcinoma from latin countries reveal aberrations linked to survival and progression
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Citações na Scopus
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Tipo de produção
article
Data de publicação
2023
Título da Revista
ISSN da Revista
Título do Volume
Editora
BMC
Autores
ROFFE, Martin
ROMERO, Ignacio
LOPEZ-GUERRERO, Jose Antonio
ILLUECA, Carmen
LOPEZ, Raquel
COSTA, Alexandre Andre Balieiro Anastacio da
BROT, Louise De
MOLINA, Juan Pablo
BARBOZA, Laura
Citação
BMC CANCER, v.23, n.1, article ID 613, 13p, 2023
Resumo
BackgroundOvarian 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.MethodsHere, 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.ResultsThe 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.ConclusionsOur results provide new data from understudied OCCC populations and reveal new potential markers for OCCCs.
Palavras-chave
Clear cell carcinoma of the Ovary, OncoScan, Latin Countries, Overall survival, Homologous recombination Deficiency
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