Histopathological and molecular findings in 98 cases of endometrial carcinoma: MMR, p53 and next generation sequencing

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dc.authorscopusid56904163300
dc.authorscopusid58022930900
dc.authorscopusid58021852400
dc.authorscopusid36716015900
dc.authorscopusid58021852500
dc.contributor.authorKarabağ, Sevil
dc.contributor.authorŞentürk, M.
dc.contributor.authorSöğüt, F.C.
dc.contributor.authorErgül, Ö.S.
dc.contributor.authorErsoy, T.
dc.date.accessioned2023-05-06T17:19:33Z
dc.date.available2023-05-06T17:19:33Z
dc.date.issued2023
dc.departmentFakülteler, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Tıbbi Patoloji Ana Bilim Dalı
dc.departmentFakülteler, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Kadın Hastalıkları ve Doğum Ana Bilim Dalı
dc.description.abstractGynecological malignancies arise from hereditary and somatic mutations, transcriptional aberrations, and genomic alterations influenced by epigenetic factors. This study aims to identify the mutations and their frequency in endometrial carcinomas (EC), and furthermore, to determine the relationship of these mutations with histopathological and immunohistochemical (IHC) parameters. The study was carried out in a retrospective cohort of 98 patients who received treatment upon being diagnosed with EC at a tertiary university hospital in Turkey between 2016 and 2021. The NGS-DNA tumor panel containing 29 genes was used in the study. NGS data of the cases were obtained from state of the evidence Tier 1 and 2 mutations. The relationship of patients’ next generation sequencing (NGS) DNA panel results with histopathological parameters and IHC results (MLH1, MSH2, PMS2, MSH6 and p53) were evaluated. In 59 of the 98 cases, mutations were detected in at least one gene investigated with the NGS DNA panel. The most common somatic mutations in endometrial carcinoma were PIK3CA (33.6%), CTNNB1 (16.3%), KRAS (12.2%) and FGFR2 (11.2%) in this cohort. Abnormal p53 was detected by IHC in 15 out of 75 (20%) cases. Loss of expression was observed in at least one mismatch repair (MMR) protein by means of IHC in 39 out of 72 (39.8%) cases. Metastasis was found in 14 out of 82 (14.3%) patients who underwent lymph node dissection. FGFR2 mutation was more common in the group with lymph node metastasis compared to those without metastasis (p = 0.02). We report the mutational landscape of EC in a tertiary referral hospital in northwestern Turkey. Although our data are very limited, we think that the FGFR2 mutation may be associated with lymph node metastasis, but studies with larger patient numbers and longer follow-up periods are needed. © 2022 Elsevier GmbH
dc.identifier.doi10.1016/j.prp.2022.154275
dc.identifier.issn0344-0338
dc.identifier.pmid36528987
dc.identifier.scopus2-s2.0-85144275273
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1016/j.prp.2022.154275
dc.identifier.urihttps://hdl.handle.net/20.500.11776/11846
dc.identifier.volume241
dc.identifier.wosWOS:001124504600005
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorKarabağ, Sevil
dc.institutionauthorŞentürk, Mehmet B.
dc.institutionauthorSöğüt, F.C.
dc.institutionauthorErgül, Ö.S.
dc.institutionauthorErsoy, T.
dc.language.isoen
dc.publisherElsevier GmbH
dc.relation.ispartofPathology Research and Practice
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectEndometrial carcinoma
dc.subjectMMR
dc.subjectNGS
dc.subjectP53
dc.subjectCTNNB1 protein
dc.subjectDNA
dc.subjectDNA mismatch repair protein MSH2
dc.subjectfibroblast growth factor receptor 2
dc.subjectK ras protein
dc.subjectmismatch repair protein
dc.subjectmismatch repair protein PMS2
dc.subjectMutL protein homolog 1
dc.subjectPIK3CA protein
dc.subjectprotein MSH6
dc.subjectprotein p53
dc.subjectunclassified drug
dc.subjectMutL protein homolog 1
dc.subjectprotein p53
dc.subjectadult
dc.subjectaged
dc.subjectArticle
dc.subjectcancer diagnosis
dc.subjectcancer patient
dc.subjectcancer therapy
dc.subjectcohort analysis
dc.subjectcontrolled study
dc.subjectdisease association
dc.subjectendometrium carcinoma
dc.subjectfemale
dc.subjectfollow up
dc.subjectgene frequency
dc.subjectgene identification
dc.subjectgene mutation
dc.subjecthigh throughput sequencing
dc.subjecthistopathology
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectimmunohistochemistry
dc.subjectlymph node dissection
dc.subjectlymph node metastasis
dc.subjectmajor clinical study
dc.subjectmetastasis
dc.subjectmolecular diagnosis
dc.subjectprotein expression
dc.subjectretrospective study
dc.subjectsomatic mutation
dc.subjecttertiary care center
dc.subjectTurkey (republic)
dc.subjectuniversity hospital
dc.subjectendometrium tumor
dc.subjectgenetics
dc.subjecthigh throughput sequencing
dc.subjectmetabolism
dc.subjectmicrosatellite instability
dc.subjectmismatch repair
dc.subjectpathology
dc.subjectDNA Mismatch Repair
dc.subjectEndometrial Neoplasms
dc.subjectFemale
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectHumans
dc.subjectLymphatic Metastasis
dc.subjectMicrosatellite Instability
dc.subjectMutL Protein Homolog 1
dc.subjectRetrospective Studies
dc.subjectTumor Suppressor Protein p53
dc.titleHistopathological and molecular findings in 98 cases of endometrial carcinoma: MMR, p53 and next generation sequencing
dc.typeArticle

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