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dc.contributor.authorNiskakoski, Anni
dc.contributor.authorPasanen, Annukka
dc.contributor.authorPorkka, Noora
dc.contributor.authorEldfors, Samuli
dc.contributor.authorLassus, Heini
dc.contributor.authorRenkonen-Sinisalo, Laura
dc.contributor.authorKaur, Sippy
dc.contributor.authorMecklin, Jukka-Pekka
dc.contributor.authorBützowb, Ralf
dc.contributor.authorPeltomäki, Päivi
dc.date.accessioned2018-06-27T11:26:41Z
dc.date.available2018-06-27T11:26:41Z
dc.date.issued2018
dc.identifier.citationNiskakoski, A., Pasanen, A., Porkka, N., Eldfors, S., Lassus, H., Renkonen-Sinisalo, L., Kaur, S., Mecklin, J.-P., Bützowb, R., & Peltomäki, P. (2018). Converging endometrial and ovarian tumorigenesis in Lynch syndrome : shared origin of synchronous carcinomas. <i>Gynecologic Oncology</i>, <i>150</i>(1), 92-98. <a href="https://doi.org/10.1016/j.ygyno.2018.04.566" target="_blank">https://doi.org/10.1016/j.ygyno.2018.04.566</a>
dc.identifier.otherCONVID_28038191
dc.identifier.otherTUTKAID_77563
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/58749
dc.description.abstractObjective The diagnosis of carcinoma in both the uterus and the ovary simultaneously is not uncommon and raises the question of synchronous primaries vs. metastatic disease. Targeted sequencing of sporadic synchronous endometrial and ovarian carcinomas has shown that such tumors are clonally related and thus represent metastatic disease from one site to the other. Our purpose was to investigate whether or not the same applies to Lynch syndrome (LS), in which synchronous cancers of the gynecological tract are twice as frequent as in sporadic cases, reflecting inherited defects in DNA mismatch repair (MMR). Methods MMR gene mutation carriers with endometrial or ovarian carcinoma or endometrial hyperplasia were identified from a nationwide registry. Endometrial (n = 35) and ovarian carcinomas (n = 23), including 13 synchronous carcinoma pairs, were collected as well as endometrial hyperplasias (n = 56) and normal endometria (n = 99) from a surveillance program over two decades. All samples were studied for MMR status, ARID1A and L1CAM protein expression and tumor suppressor gene promoter methylation, and synchronous carcinomas additionally for somatic mutation profiles of 578 cancer-relevant genes. Results Synchronous carcinomas were molecularly concordant in all cases. Prior or concurrent complex (but not simple) endometrial hyperplasias showed a high degree of concordance with endometrial or ovarian carcinoma as the endpoint lesion. Conclusions Our investigation suggests shared origins for synchronous endometrial and ovarian carcinomas in LS, in analogy to sporadic cases. The similar degrees of concordance between complex hyperplasias and endometrial vs. ovarian carcinoma highlight converging pathways for endometrial and ovarian tumorigenesis overall.fi
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherAcademic Press
dc.relation.ispartofseriesGynecologic Oncology
dc.rightsCC BY 4.0
dc.subject.otherendometrial hyperplasia
dc.subject.otherhypermethylation
dc.subject.othermismatch repair
dc.titleConverging endometrial and ovarian tumorigenesis in Lynch syndrome : shared origin of synchronous carcinomas
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-201806253341
dc.contributor.laitosLiikuntatieteellinen tiedekuntafi
dc.contributor.laitosFaculty of Sport and Health Sciencesen
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.date.updated2018-06-25T09:15:11Z
dc.description.reviewstatuspeerReviewed
dc.format.pagerange92-98
dc.relation.issn0090-8258
dc.relation.numberinseries1
dc.relation.volume150
dc.type.versionpublishedVersion
dc.rights.copyright© 2018 The Authors. Published by Elsevier Inc.
dc.rights.accesslevelopenAccessfi
dc.subject.ysoLynchin oireyhtymä
dc.subject.ysosyöpätaudit
dc.subject.ysomunasarjasyöpä
dc.subject.ysokohdunrungon syöpä
dc.format.contentfulltext
jyx.subject.urihttp://www.yso.fi/onto/yso/p23697
jyx.subject.urihttp://www.yso.fi/onto/yso/p678
jyx.subject.urihttp://www.yso.fi/onto/yso/p3051
jyx.subject.urihttp://www.yso.fi/onto/yso/p12798
dc.rights.urlhttps://creativecommons.org/licenses/by/4.0/
dc.relation.doi10.1016/j.ygyno.2018.04.566


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