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

dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorBATISTA, Mariana de Paiva
dc.contributor.authorROFFE, Martin
dc.contributor.authorROMERO, Ignacio
dc.contributor.authorLOPEZ-GUERRERO, Jose Antonio
dc.contributor.authorILLUECA, Carmen
dc.contributor.authorLOPEZ, Raquel
dc.contributor.authorCOSTA, Alexandre Andre Balieiro Anastacio da
dc.contributor.authorBROT, Louise De
dc.contributor.authorMOLINA, Juan Pablo
dc.contributor.authorBARBOZA, Laura
dc.contributor.authorPERIA, Fernanda Maris
dc.contributor.authorCHAUD, Fernando
dc.contributor.authorYAMADA, Ana Silvia Gouvea
dc.contributor.authorPOVEDA, Andres
dc.contributor.authorREGO, Eduardo Magalhaes
dc.date.accessioned2024-04-05T19:29:01Z
dc.date.available2024-04-05T19:29:01Z
dc.date.issued2023
dc.description.abstractBackgroundOvarian 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.eng
dc.description.indexMEDLINE
dc.description.indexPubMed
dc.description.indexScopus
dc.description.indexDimensions
dc.description.indexWoS
dc.identifier.citationBMC CANCER, v.23, n.1, article ID 613, 13p, 2023
dc.identifier.doi10.1186/s12885-023-11095-8
dc.identifier.eissn1471-2407
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/58792
dc.language.isoeng
dc.publisherBMCeng
dc.relation.ispartofBMC Cancer
dc.rightsopenAccesseng
dc.rights.holderCopyright BMCeng
dc.subjectClear cell carcinoma of the Ovaryeng
dc.subjectOncoScaneng
dc.subjectLatin Countrieseng
dc.subjectOverall survivaleng
dc.subjectHomologous recombination Deficiencyeng
dc.subject.otherhistological subtypeseng
dc.subject.otherfallopian-tubeeng
dc.subject.otherdna-repaireng
dc.subject.othercancereng
dc.subject.otherinstabilityeng
dc.subject.otherprognosiseng
dc.subject.otherpatternseng
dc.subject.othertrendseng
dc.subject.othergeneseng
dc.subject.otherstageeng
dc.subject.wosOncologyeng
dc.titleGenomic landscapes of ovarian clear cell carcinoma from latin countries reveal aberrations linked to survival and progressioneng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryEspanha
hcfmusp.affiliation.countryCosta Rica
hcfmusp.affiliation.countryCanadá
hcfmusp.affiliation.countryisoca
hcfmusp.affiliation.countryisoes
hcfmusp.affiliation.countryisocr
hcfmusp.author.externalROFFE, Martin:Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, Canada
hcfmusp.author.externalROMERO, Ignacio:Valencian Inst Oncol Fdn, Gynecol Oncol Area, Valencia, Spain
hcfmusp.author.externalLOPEZ-GUERRERO, Jose Antonio:Valencian Inst Oncol Fdn, Gynecol Oncol Area, Valencia, Spain
hcfmusp.author.externalILLUECA, Carmen:Valencian Inst Oncol Fdn, Gynecol Oncol Area, Valencia, Spain
hcfmusp.author.externalLOPEZ, Raquel:Valencian Inst Oncol Fdn, Gynecol Oncol Area, Valencia, Spain
hcfmusp.author.externalCOSTA, Alexandre Andre Balieiro Anastacio da:ACCamargo Canc Ctr, Dept Gynecol Oncol, Sao Paulo, Brazil
hcfmusp.author.externalBROT, Louise De:ACCamargo Canc Ctr, Dept Pathol, Sao Paulo, Brazil
hcfmusp.author.externalMOLINA, Juan Pablo:CCSS, Mex Hosp, Med Oncol Serv, San Jose, Costa Rica
hcfmusp.author.externalBARBOZA, Laura:San Juan de Dios Hosp, Pathol Anat Serv, San Jose, Costa Rica
hcfmusp.author.externalPERIA, Fernanda Maris:Univ Sao Paulo, Med Sch Ribeirao Preto, Dept Internal Med, Tenente Catao Roxo 2501, BR-14051140 Ribeirao Preto, Brazil; Univ Sao Paulo, Ctr Cell Based Therapy, Tenente Catao Roxo 2501, BR-14051140 Ribeirao Preto, Brazil
hcfmusp.author.externalCHAUD, Fernando:Univ Sao Paulo, Med Sch Ribeirao Preto, Dept Internal Med, Tenente Catao Roxo 2501, BR-14051140 Ribeirao Preto, Brazil; Univ Sao Paulo, Ctr Cell Based Therapy, Tenente Catao Roxo 2501, BR-14051140 Ribeirao Preto, Brazil
hcfmusp.author.externalYAMADA, Ana Silvia Gouvea:Univ Sao Paulo, Med Sch Ribeirao Preto, Dept Internal Med, Tenente Catao Roxo 2501, BR-14051140 Ribeirao Preto, Brazil; Univ Sao Paulo, Ctr Cell Based Therapy, Tenente Catao Roxo 2501, BR-14051140 Ribeirao Preto, Brazil
hcfmusp.author.externalPOVEDA, Andres:Quironsalud Hosp, Oncogynecol Dept, Valencia, Spain
hcfmusp.citation.scopus0
hcfmusp.contributor.author-fmusphcMARIANA DE PAIVA BATISTA
hcfmusp.contributor.author-fmusphcEDUARDO MAGALHAES REGO
hcfmusp.description.articlenumber613
hcfmusp.description.issue1
hcfmusp.description.volume23
hcfmusp.origemWOS
hcfmusp.origem.dimensionspub.1160321262
hcfmusp.origem.pubmed37400764
hcfmusp.origem.scopus2-s2.0-85163942666
hcfmusp.origem.wosWOS:001022889500003
hcfmusp.publisher.cityLONDONeng
hcfmusp.publisher.countryENGLANDeng
hcfmusp.relation.referenceAbkevich V, 2012, BRIT J CANCER, V107, P1776, DOI 10.1038/bjc.2012.451eng
hcfmusp.relation.referenceAnglesio MS, 2015, J PATHOL, V236, P201, DOI 10.1002/path.4516eng
hcfmusp.relation.referenceAnglesio MS, 2011, CLIN CANCER RES, V17, P2538, DOI 10.1158/1078-0432.CCR-10-3314eng
hcfmusp.relation.referenceAnglesio MS, 2011, GYNECOL ONCOL, V121, P407, DOI 10.1016/j.ygyno.2011.01.005eng
hcfmusp.relation.referenceBai HM, 2016, GYNECOL ONCOL, V143, P526, DOI 10.1016/j.ygyno.2016.10.009eng
hcfmusp.relation.referenceBell D, 2011, NATURE, V474, P609, DOI 10.1038/nature10166eng
hcfmusp.relation.referenceBirkbak NJ, 2012, CANCER DISCOV, V2, P366, DOI 10.1158/2159-8290.CD-11-0206eng
hcfmusp.relation.referenceBuhard O, 2006, J CLIN ONCOL, V24, P241, DOI 10.1200/JCO.2005.02.7227eng
hcfmusp.relation.referenceCaumanns JJ, 2018, CLIN CANCER RES, V24, P3928, DOI 10.1158/1078-0432.CCR-17-3060eng
hcfmusp.relation.referenceChan JK, 2008, GYNECOL ONCOL, V109, P370, DOI 10.1016/j.ygyno.2008.02.006eng
hcfmusp.relation.referenceChandler RL, 2014, NAT COMMUNeng
hcfmusp.relation.referenceCheng Y, 2019, SIGNAL TRANSDUCT TAR, V4, DOI 10.1038/s41392-019-0095-0eng
hcfmusp.relation.referenceChiang YC, 2013, J GYNECOL ONCOL, V24, P342, DOI 10.3802/jgo.2013.24.4.342eng
hcfmusp.relation.referenceCoburn SB, 2017, INT J CANCER, V140, P2451, DOI 10.1002/ijc.30676eng
hcfmusp.relation.referenceFriedlander ML, 2016, INT J GYNECOL CANCER, V26, P648, DOI 10.1097/IGC.0000000000000677eng
hcfmusp.relation.referenceFujimoto A, 2016, NAT GENET, V48, P500, DOI 10.1038/ng.3547eng
hcfmusp.relation.referenceGourley C., 2020, INT J GYNECOL CANCER, V0, P1eng
hcfmusp.relation.referenceHicks J, 2006, GENOME RES, V16, P1465, DOI 10.1101/gr.5460106eng
hcfmusp.relation.referenceHo ESC, 2001, GYNECOL ONCOL, V80, P189, DOI 10.1006/gyno.2000.6025eng
hcfmusp.relation.referenceItamochi H, 2017, BRIT J CANCER, V117, P717, DOI 10.1038/bjc.2017.228eng
hcfmusp.relation.referenceIwasaki M, 2008, EUR J CANCER PREV, V17, P1, DOI 10.1097/CEJ.0b013e32811080dfeng
hcfmusp.relation.referenceKhalique S, 2020, SEMIN CANCER BIOL, V61, P121, DOI 10.1016/j.semcancer.2019.10.025eng
hcfmusp.relation.referenceKim SI, 2018, GYNECOL ONCOL, V148, P375, DOI 10.1016/j.ygyno.2017.12.005eng
hcfmusp.relation.referenceKim SI, 2016, J GYNECOL ONCOL, V27, DOI 10.3802/jgo.2016.27.e5eng
hcfmusp.relation.referenceKöbel M, 2010, INT J GYNECOL PATHOL, V29, P203, DOI 10.1097/PGP.0b013e3181c042b6eng
hcfmusp.relation.referenceKorenaga TR, 2020, GYNECOL ONCOL, V157, P62, DOI 10.1016/j.ygyno.2020.01.034eng
hcfmusp.relation.referenceKristensen GB, 2003, ANN ONCOL, V14, P1494, DOI 10.1093/annonc/mdg403eng
hcfmusp.relation.referenceKuo KT, 2010, CLIN CANCER RES, V16, P1997, DOI 10.1158/1078-0432.CCR-09-2105eng
hcfmusp.relation.referenceLee YY, 2011, GYNECOL ONCOL, V122, P541, DOI 10.1016/j.ygyno.2011.05.009eng
hcfmusp.relation.referenceLord CJ, 2017, SCIENCE, V355, P1152, DOI 10.1126/science.aam7344eng
hcfmusp.relation.referenceMarks EI, 2020, AM J CLIN ONCOL-CANC, V43, P139, DOI 10.1097/COC.0000000000000641eng
hcfmusp.relation.referenceMurakami R, 2017, AM J PATHOL, V187, P2246, DOI 10.1016/j.ajpath.2017.06.012eng
hcfmusp.relation.referenceMutch DG, 2014, GYNECOL ONCOL, V133, P401, DOI 10.1016/j.ygyno.2014.04.013eng
hcfmusp.relation.referenceOkamoto A, 2015, PLOS ONE, V10, DOI 10.1371/journal.pone.0116977eng
hcfmusp.relation.referenceOkamoto A, 2014, INT J GYNECOL CANCER, V24, pS20, DOI 10.1097/IGC.0000000000000289eng
hcfmusp.relation.referenceOrezzoli JP, 2008, GYNECOL ONCOL, V110, P336, DOI 10.1016/j.ygyno.2008.05.025eng
hcfmusp.relation.referencePark JY, 2018, INT J GYNECOL CANCER, V28, P11, DOI 10.1097/IGC.0000000000001136eng
hcfmusp.relation.referencePearce CL, 2012, LANCET ONCOL, V13, P385, DOI 10.1016/S1470-2045(11)70404-1eng
hcfmusp.relation.referencePennington KP, 2014, CLIN CANCER RES, V20, P764, DOI 10.1158/1078-0432.CCR-13-2287eng
hcfmusp.relation.referencePesenti C, 2022, EUR J CANCER, V171, P85, DOI 10.1016/j.ejca.2022.05.005eng
hcfmusp.relation.referencePopova T, 2012, CANCER RES, V72, P5454, DOI 10.1158/0008-5472.CAN-12-1470eng
hcfmusp.relation.referenceRahman MT, 2012, CANCER-AM CANCER SOC, V118, P2846, DOI 10.1002/cncr.26598eng
hcfmusp.relation.referenceRehman FL, 2012, CANCER DISCOV, V2, P982, DOI 10.1158/2159-8290.CD-12-0433eng
hcfmusp.relation.referenceRoss EM, 2021, BIOINFORMATICS, V37, P1909, DOI 10.1093/bioinformatics/btaa538eng
hcfmusp.relation.referenceSchuettengruber B, 2011, NAT REV MOL CELL BIO, V12, P799, DOI 10.1038/nrm3230eng
hcfmusp.relation.referenceShibuya Y, 2018, GENE CHROMOSOME CANC, V57, P51, DOI 10.1002/gcc.22507eng
hcfmusp.relation.referenceSkawran B, 2008, MODERN PATHOL, V21, P505, DOI 10.1038/modpathol.3800998eng
hcfmusp.relation.referenceStorchova Z, 2004, NAT REV MOL CELL BIO, V5, P45, DOI 10.1038/nrm1276eng
hcfmusp.relation.referenceStuart GCE, 2011, INT J GYNECOL CANCER, V21, P750, DOI 10.1097/IGC.0b013e31821b2568eng
hcfmusp.relation.referenceSugino K, 2019, SCI REP-UK, V9, DOI 10.1038/s41598-019-54116-yeng
hcfmusp.relation.referenceSugiyama T, 2000, CANCER, V88, P2584, DOI 10.1002/1097-0142(20000601)88:11<2584::AID-CNCR22>3.3.CO;2-Xeng
hcfmusp.relation.referenceSung PL, 2014, GYNECOL ONCOL, V133, P147, DOI 10.1016/j.ygyno.2014.02.016eng
hcfmusp.relation.referenceSztupinszki Z, 2018, NPJ BREAST CANCER, V4, DOI 10.1038/s41523-018-0066-6eng
hcfmusp.relation.referenceTakenaka M, 2019, CLIN CANCER RES, V25, P3962, DOI 10.1158/1078-0432.CCR-18-3691eng
hcfmusp.relation.referenceTan DSP, 2011, CLIN CANCER RES, V17, P1521, DOI 10.1158/1078-0432.CCR-10-1688eng
hcfmusp.relation.referenceTanaka Y, 2007, GENE, V397, P161, DOI 10.1016/j.gene.2007.04.027eng
hcfmusp.relation.referenceTelli ML, 2016, CLIN CANCER RES, V22, P3764, DOI 10.1158/1078-0432.CCR-15-2477eng
hcfmusp.relation.referenceThorvaldsdóttir H, 2013, BRIEF BIOINFORM, V14, P178, DOI 10.1093/bib/bbs017eng
hcfmusp.relation.referenceTrissal MC, 2018, CANCER RES, V78, P3510, DOI 10.1158/0008-5472.CAN-17-3592eng
hcfmusp.relation.referenceUehara Y, 2015, PLOS ONE, V10, DOI 10.1371/journal.pone.0128066eng
hcfmusp.relation.referenceVan Loo P, 2010, P NATL ACAD SCI USA, V107, P16910, DOI 10.1073/pnas.1009843107eng
hcfmusp.relation.referenceVivas-Mejia P, 2010, CLIN CANCER RES, V16, P184, DOI 10.1158/1078-0432.CCR-09-1180eng
hcfmusp.relation.referenceWang YK, 2017, NAT GENET, V49, P856, DOI 10.1038/ng.3849eng
hcfmusp.relation.referenceWu QH, 2020, J ENZYM INHIB MED CH, V35, P574, DOI 10.1080/14756366.2020.1720013eng
hcfmusp.relation.referenceXu B, 2020, J BIOL CHEM, V295, P8834, DOI 10.1074/jbc.RA120.013530eng
hcfmusp.relation.referenceYahata T, 2012, J OBSTET GYNAECOL RE, V38, P645, DOI 10.1111/j.1447-0756.2011.01755.xeng
hcfmusp.relation.referenceYamamoto S, 2012, MODERN PATHOL, V25, P615, DOI 10.1038/modpathol.2011.189eng
hcfmusp.relation.referenceYang Q, 2020, NEOPLASIA, V22, P399, DOI 10.1016/j.neo.2020.06.002eng
hcfmusp.relation.referenceYap TA, 2020, CANCER DISCOV, V10, P1528, DOI 10.1158/2159-8290.CD-20-0163eng
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