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      Associations of long non-coding RNAs HOTAIR, LINC00951, POLR2E and HULC polymorphisms with the risk of esophageal and esophagogastric junction cancer in a western population: a case-control study

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          Abstract

          Background

          The incidence of single-nucleotide-polymorphisms with malignant potential in esophageal cancer tissues has only been sparsely investigated in the west. Hence, we explored the contribution of four long non-coding RNAs’ polymorphisms HOTAIR rs920778, LINC00951 rs11752942, POLR2E rs3787016 and HULC rs7763881 in esophageal cancer susceptibility.

          Methods and results

          Formalin-fixed paraffin-embedded tissue specimens from 95 consecutive patients operated for esophageal/esophagogastric junction carcinoma during 25/03/2014-25/09/2018 were processed. Demographic data, histopathological parameters, surgical and oncological outcomes were collected. DNA findings of the abovementioned population were compared with 121 healthy community controls. Both populations were of European/Greek ancestry. Sixty-seven patients underwent Ivor Lewis/McKeown esophagectomy for either squamous cell esophageal carcinoma ( N = 6) or esophageal/esophagogastric junction Siewert I or II adenocarcinoma ( N = 61). Twenty-eight patients were subjected to extended total gastrectomy for esophagogastric junction Siewert III adenocarcinoma. Neither LINC00951 rs11752942 nor HULC rs7763881 polymorphisms were detected more frequently in esophageal cancer patients compared with healthy community subjects. A significantly higher presence of HOTAIR rs920778 TT genotype in esophagogastric junction Siewert I/II adenocarcinoma was identified. POLR2E rs3787016 C allele and CC genotypes were overrepresented in the control group, and when found in esophageal cancer carriers were associated with earlier disease stages, as well as with minor lymph node involvement and lesser metastatic potential.

          Conclusions

          HOTAIR rs920778 may serve as a potential therapeutic suppression target, while POLR2E rs3787016 may represent a valuable biomarker to evaluate esophageal cancer predisposition and predict treatment response and prognosis. Clinical implications of these findings need to be verified with further prospective studies with larger sample-size.

          Supplementary Information

          The online version contains supplementary material available at 10.1007/s11033-024-09206-0.

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          Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries

          This article provides an update on the global cancer burden using the GLOBOCAN 2020 estimates of cancer incidence and mortality produced by the International Agency for Research on Cancer. Worldwide, an estimated 19.3 million new cancer cases (18.1 million excluding nonmelanoma skin cancer) and almost 10.0 million cancer deaths (9.9 million excluding nonmelanoma skin cancer) occurred in 2020. Female breast cancer has surpassed lung cancer as the most commonly diagnosed cancer, with an estimated 2.3 million new cases (11.7%), followed by lung (11.4%), colorectal (10.0 %), prostate (7.3%), and stomach (5.6%) cancers. Lung cancer remained the leading cause of cancer death, with an estimated 1.8 million deaths (18%), followed by colorectal (9.4%), liver (8.3%), stomach (7.7%), and female breast (6.9%) cancers. Overall incidence was from 2-fold to 3-fold higher in transitioned versus transitioning countries for both sexes, whereas mortality varied <2-fold for men and little for women. Death rates for female breast and cervical cancers, however, were considerably higher in transitioning versus transitioned countries (15.0 vs 12.8 per 100,000 and 12.4 vs 5.2 per 100,000, respectively). The global cancer burden is expected to be 28.4 million cases in 2040, a 47% rise from 2020, with a larger increase in transitioning (64% to 95%) versus transitioned (32% to 56%) countries due to demographic changes, although this may be further exacerbated by increasing risk factors associated with globalization and a growing economy. Efforts to build a sustainable infrastructure for the dissemination of cancer prevention measures and provision of cancer care in transitioning countries is critical for global cancer control.
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            The Clavien-Dindo classification of surgical complications: five-year experience.

            The lack of consensus on how to define and grade adverse postoperative events has greatly hampered the evaluation of surgical procedures. A new classification of complications, initiated in 1992, was updated 5 years ago. It is based on the type of therapy needed to correct the complication. The principle of the classification was to be simple, reproducible, flexible, and applicable irrespective of the cultural background. The aim of the current study was to critically evaluate this classification from the perspective of its use in the literature, by assessing interobserver variability in grading complex complication scenarios and to correlate the classification grades with patients', nurses', and doctors' perception. Reports from the literature using the classification system were systematically analyzed. Next, 11 scenarios illustrating difficult cases were prepared to develop a consensus on how to rank the various complications. Third, 7 centers from different continents, having routinely used the classification, independently assessed the 11 scenarios. An agreement analysis was performed to test the accuracy and reliability of the classification. Finally, the perception of the severity was tested in patients, nurses, and physicians by presenting 30 scenarios, each illustrating a specific grade of complication. We noted a dramatic increase in the use of the classification in many fields of surgery. About half of the studies used the contracted form, whereas the rest used the full range of grading. Two-thirds of the publications avoided subjective terms such as minor or major complications. The study of 11 difficult cases among various centers revealed a high degree of agreement in identifying and ranking complications (89% agreement), and enabled a better definition of unclear situations. Each grade of complications significantly correlated with the perception by patients, nurses, and physicians (P < 0.05, Kruskal-Wallis test). This 5-year evaluation provides strong evidence that the classification is valid and applicable worldwide in many fields of surgery. No modification in the general principle of classification is warranted in view of the use in ongoing publications and trials. Subjective, inaccurate, or confusing terms such as "minor or major" should be removed from the surgical literature.
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              The STROBE guidelines

              An observational study is a type of epidemiological study design, which can take the form of a cohort, a case–control, or a cross-sectional study. When presenting observational studies in manuscripts, an author needs to ascertain a clear presentation of the work and provide the reader with appropriate information to enable critical appraisal of the research. The Strengthening the Reporting of Observational studies in Epidemiology (STROBE) guidelines were created to aid the author in ensuring high-quality presentation of the conducted observational study. The original articles publishing the STROBE guidelines together with their bibliographies were identified and thoroughly reviewed. These guidelines consist of 22 checklist items that the author needs to fulfil before submitting the manuscript to a journal. The STROBE guidelines were created to aid the authors in presenting their work and not to act as a validation tool for the conducted study or as a framework to conduct an observational study on. The authors complying with these guidelines are more likely to succeed in publishing their observational study work in a journal.
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                Author and article information

                Contributors
                efstratia.baili@gmail.com
                Journal
                Mol Biol Rep
                Mol Biol Rep
                Molecular Biology Reports
                Springer Netherlands (Dordrecht )
                0301-4851
                1573-4978
                1 February 2024
                1 February 2024
                2024
                : 51
                : 1
                : 249
                Affiliations
                [1 ]Upper Gastrointestinal and General Surgery Unit, First Department of Surgery, Laiko General Hospital, School of Medicine, National and Kapodistrian University of Athens, ( https://ror.org/04gnjpq42) Agiou Thoma 17, Athens, 11527 Greece
                [2 ]King’s Health Partners, ( https://ror.org/01xcsye48) London, UK
                [3 ]Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, ( https://ror.org/04gnjpq42) Athens, Greece
                [4 ]First Department of Pathology, School of Medicine, National and Kapodistrian University of Athens, ( https://ror.org/04gnjpq42) Athens, Greece
                [5 ]GRID grid.440838.3, ISNI 0000 0001 0642 7601, Department of General Surgery/Anatomy, School of Medicine, , European University of Cyprus, ; Nicosia, Cyprus
                Author information
                http://orcid.org/0000-0001-8745-2269
                http://orcid.org/0000-0002-3295-6811
                http://orcid.org/0000-0002-8118-7780
                http://orcid.org/0000-0002-2819-472X
                http://orcid.org/0000-0002-9958-9083
                http://orcid.org/0000-0003-2988-2791
                http://orcid.org/0000-0003-1835-4723
                http://orcid.org/0000-0003-2289-6242
                http://orcid.org/0000-0002-2117-0493
                Article
                9206
                10.1007/s11033-024-09206-0
                10834655
                38300349
                bee12caa-b8e5-4eba-90d1-24f5b6a0622b
                © The Author(s) 2024

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 10 November 2023
                : 2 January 2024
                Funding
                Funded by: University of Athens
                Categories
                Original Article
                Custom metadata
                © Springer Nature B.V. 2024

                Molecular biology
                single-nucleotide-polymorphisms (snps),esophageal cancer,esophagogastric junction carcinoma,long noncoding rnas (lncrnas),hotair rs920778,linc00951 rs11752942,polr2e rs3787016 and hulc rs7763881

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