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      Call for Papers: Digital Diagnostic Techniques

      Submit here before November 30, 2024

      About Pathobiology: 3.5 Impact Factor I 8.5 CiteScore I 1.088 Scimago Journal & Country Rank (SJR)

      Call for Papers: Supportive Care - Essential for Modern Oncology

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      About Oncology Research and Treatment: 2.0 Impact Factor I 3.2 CiteScore I 0.521 Scimago Journal & Country Rank (SJR)

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      Mutations in a High-Grade Micropapillary Urothelial Carcinoma of the Renal Pelvis: A Case Report

      case-report

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          Abstract

          Micropapillary urothelial carcinoma (MPUC) of the renal pelvis is an upper tract urothelial carcinoma originating in the renal pelvis region. Few genetic studies are available, and the mechanism of pathogenesis of genetically driven models is unclear. We report a case of genomic alterations in MPUC of the renal pelvis and compare the results with existing literature. DNA was extracted, followed by the next-generation sequencing of 351 oncogenes and tumor suppressor genes. Targeted gene sequencing analysis revealed somatic variants in ERBB2, KMT2C, FOXA1, and germline variants in CDKN1B, ELF3, TP53, and RB1 genes. The present case study sheds light on recognizing genetic variants in high-grade MPUC of the renal pelvis. Understanding molecular mechanisms helps with better prognostication and development of more effective therapeutics and treatment.

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          g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update)

          Uku Raudvere, Liis Kolberg, Ivan Kuzmin … (2019)
          Abstract Biological data analysis often deals with lists of genes arising from various studies. The g:Profiler toolset is widely used for finding biological categories enriched in gene lists, conversions between gene identifiers and mappings to their orthologs. The mission of g:Profiler is to provide a reliable service based on up-to-date high quality data in a convenient manner across many evidence types, identifier spaces and organisms. g:Profiler relies on Ensembl as a primary data source and follows their quarterly release cycle while updating the other data sources simultaneously. The current update provides a better user experience due to a modern responsive web interface, standardised API and libraries. The results are delivered through an interactive and configurable web design. Results can be downloaded as publication ready visualisations or delimited text files. In the current update we have extended the support to 467 species and strains, including vertebrates, plants, fungi, insects and parasites. By supporting user uploaded custom GMT files, g:Profiler is now capable of analysing data from any organism. All past releases are maintained for reproducibility and transparency. The 2019 update introduces an extensive technical rewrite making the services faster and more flexible. g:Profiler is freely available at https://biit.cs.ut.ee/gprofiler.
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            Pan-cancer analysis of whole genomes

            Peter J Campbell, Gad Getz, Jan O. Korbel … (2020)
            Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale 1–3 . Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter 4 ; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation 5,6 ; analyses timings and patterns of tumour evolution 7 ; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity 8,9 ; and evaluates a range of more-specialized features of cancer genomes 8,10–18 .
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              European Association of Urology Guidelines on Upper Urinary Tract Urothelial Carcinoma: 2020 Update

              Morgan Rouprêt, Marko Babjuk, Maximilian Burger … (2020)
              The European Association of Urology (EAU) Guidelines Panel on Upper Urinary Tract Urothelial Carcinoma (UTUC) has prepared updated guidelines to aid clinicians in the current evidence-based management of UTUC and to incorporate recommendations into clinical practice.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Case Rep Oncol
                Journal ID (iso-abbrev): Case Rep Oncol
                Journal ID (hwp): CRO
                Journal ID (publisher-id): CRO
                Title: Case Reports in Oncology
                Publisher: S. Karger AG (Basel, Switzerland )
                ISSN (Electronic): 1662-6575
                Publication date (Electronic): 20 September 2023
                Publication date Collection: Jan-Dec 2023
                Publication date PMC-release: 20 September 2023
                Volume: 16
                Issue: 1
                Pages: 972-979
                Affiliations
                [a ]GenepoweRx, Hyderabad, India
                [b ]Medicover Cancer Institute, Madhapur, Hyderabad, India
                Author notes
                Correspondence to: Kalyan Ram Uppaluri, kalyan@ 123456khdreamlife.com or K. Sri Manjari, manjari@ 123456khdreamlife.com
                Article
                Publisher ID: 530710
                DOI: 10.1159/000530710
                PMC ID: 10601746
                PubMed ID: 37900819
                SO-VID: bb701545-8449-442d-bcdb-93adec79e42a
                Copyright © © 2023 The Author(s). Published by S. Karger AG, Basel
                License:

                This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) ( http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.

                History
                Date received : 10 November 2022
                Date accepted : 6 April 2023
                Date: 2023
                Page count
                Figures: 2, Tables: 1, References: 25, Pages: 8
                Funding
                The authors did not receive any funding.
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Oncology & Radiotherapy
                Keywords: carcinoma,oncogenes,tumor suppressor,case report
                Data availability:
                ScienceOpen disciplines: Oncology & Radiotherapy
                Keywords: carcinoma, oncogenes, tumor suppressor, case report

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