Melanie R Hassler1, Freddie Bray2, James W F Catto3, Arthur P Grollman4, Arndt Hartmann5, Vitaly Margulis6, Surena F Matin7, Morgan Roupret8, John P Sfakianos9, Shahrokh F Shariat10, Bishoy M Faltas11. 1. Department of Urology, Medical University of Vienna, Vienna, Austria. 2. Section of Cancer Surveillance, International Agency for Research on Cancer, Lyon, France. 3. Academic Urology Unit, University of Sheffield, Sheffield, UK. 4. Department of Pharmacological Sciences and Department of Medicine, Stony Brook University, Stony Brook, New York, NY, USA. 5. Institute of Pathology, Friedrich-Alexander Universität, Erlangen, Germany. 6. Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX, USA. 7. Department of Urology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. 8. Urology, GRC n°5, Predictive Onco-Uro, AP-HP, Hôpital Pitié-Salpêtrière, Sorbonne University, Paris, France. 9. Department of Urology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 10. Department of Urology, Medical University of Vienna, Vienna, Austria; Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX, USA; Karl Landsteiner Institute of Urology and Andrology, Vienna, Austria; Department of Urology, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, NY, USA; Department of Urology, Second Faculty of Medicine, Charles University, Prague, Czech Republic; Institute for Urology and Reproductive Health, I.M. Sechenov First Moscow State Medical University, Moscow, Russia; Division of Urology, Department of Special Surgery, Jordan University Hospital, The University of Jordan, Amman, Jordan; European Association of Urology research foundation, Arnhem, Netherlands. Electronic address: shahrokh.shariat@meduniwien.ac.at. 11. Department of Urology, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, NY, USA; Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA; Department of Medicine, Division of Hematology and Medical Oncology, Weill Cornell Medicine, New York, NY, USA; Sandra and Edward Meyer Cancer Center at Weill Cornell Medicine, New York, NY, USA; Department of Cell and Developmental Biology, Weill Cornell Medicine, New York, NY, USA.
Abstract
CONTEXT: While upper tract urothelial carcinoma (UTUC) share histological appearance with bladder cancer (BC), the former has differences in etiology and clinical phenotype consistent with characteristic molecular alterations. OBJECTIVE: To systematically evaluate current genomic sequencing and proteomic data examining molecular alterations in UTUC. EVIDENCE ACQUISITION: A systematic review using PubMed, Scopus, and Web of Science was performed in December 2019 according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. EVIDENCE SYNTHESIS: A total of 46 publications were selected for inclusion in this report, including 13 studies assessing genome-wide alterations, 18 studies assessing gene expression or microRNA expression profiles, three studies assessing proteomics, one study assessing genome-wide DNA methylation, and 14 studies evaluating distinct pathway alteration patterns. Differences between sporadic and hereditary UTUC, and between UTUC and BC, as well as molecular profiles associated with exposure to aristolochic acid are highlighted. Molecular pathways relevant to UTUC biology, such as alterations in FGFR3, TP53, or microsatellite instability, are discussed. Our findings are limited by tumor and patient heterogeneity and different platforms used in the studies. CONCLUSIONS: Molecular events in UTUC and BC can be shared or distinct. Consequently, molecular subtypes differ according to location. Further work is needed to define the epigenomic and proteomic features of UTUC, and understand the mechanisms by which they shape the clinical behavior of UTUC. PATIENT SUMMARY: We report the current data on the molecular alterations specific to upper tract urothelial carcinoma (UTUC), resulting from novel genomic and proteomic technologies. Although UTUC biology is comparable with that of bladder cancer, the rates and UTUC-enriched alterations support its uniqueness and the need for precision medicine strategies for this rare tumor type.
CONTEXT: While upper tract urothelial carcinoma (UTUC) share histological appearance with bladder cancer (BC), the former has differences in etiology and clinical phenotype consistent with characteristic molecular alterations. OBJECTIVE: To systematically evaluate current genomic sequencing and proteomic data examining molecular alterations in UTUC. EVIDENCE ACQUISITION: A systematic review using PubMed, Scopus, and Web of Science was performed in December 2019 according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. EVIDENCE SYNTHESIS: A total of 46 publications were selected for inclusion in this report, including 13 studies assessing genome-wide alterations, 18 studies assessing gene expression or microRNA expression profiles, three studies assessing proteomics, one study assessing genome-wide DNA methylation, and 14 studies evaluating distinct pathway alteration patterns. Differences between sporadic and hereditary UTUC, and between UTUC and BC, as well as molecular profiles associated with exposure to aristolochic acid are highlighted. Molecular pathways relevant to UTUC biology, such as alterations in FGFR3, TP53, or microsatellite instability, are discussed. Our findings are limited by tumor and patient heterogeneity and different platforms used in the studies. CONCLUSIONS: Molecular events in UTUC and BC can be shared or distinct. Consequently, molecular subtypes differ according to location. Further work is needed to define the epigenomic and proteomic features of UTUC, and understand the mechanisms by which they shape the clinical behavior of UTUC. PATIENT SUMMARY: We report the current data on the molecular alterations specific to upper tract urothelial carcinoma (UTUC), resulting from novel genomic and proteomic technologies. Although UTUC biology is comparable with that of bladder cancer, the rates and UTUC-enriched alterations support its uniqueness and the need for precision medicine strategies for this rare tumor type.
Authors: Victor M Schuettfort; Benjamin Pradere; Fahad Quhal; Hadi Mostafaei; Ekaterina Laukhtina; Keiichiro Mori; Reza Sari Motlagh; Michael Rink; David D'Andrea; Mohammad Abufaraj; Pierre I Karakiewicz; Shahrokh F Shariat Journal: Turk J Urol Date: 2020-10-09
Authors: Sandra Karanović; Maude Ardin; Zuojian Tang; Karla Tomić; Stephanie Villar; Claire Renard; Elisa Venturini; Adam H Lorch; Daniel S Lee; Želimir Stipančić; Neda Slade; Ivana Vuković Brinar; Damir Dittrich; Krešimir Karlović; Fran Borovečki; Kathleen G Dickman; Magali Olivier; Arthur P Grollman; Bojan Jelaković; Jiri Zavadil Journal: Int J Cancer Date: 2021-10-15 Impact factor: 7.316