The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, <i>RB1</i> and <i>ERBB2</i> Somatic Mutations

Bladder cancer is one of the most common cancers in global statistics. One of the issues associated with this disease is the high incidence of cases with delayed diagnosis and what factors correlate with worse treatment outcomes. A possible reason for this may be the rather limited availability of n...

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Main Authors: Tadeusz Kałużewski, Grzegorz K. Przybylski, Michał Bednarek, Sławomir Glazar, Magdalena Grabiec, Adam Jędrzejczyk, Łukasz Kępczyński, Izabela Kubiak, Dorota Kucharska, Agnieszka Morel, Magdalena Owczarek, Marek Rożniecki, Jordan Sałamunia, Dominika Szewczyk, Jarosław Szwalski, Bogdan Kałużewski
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Journal of Personalized Medicine
Subjects:
Online Access:https://www.mdpi.com/2075-4426/11/5/362
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author Tadeusz Kałużewski
Grzegorz K. Przybylski
Michał Bednarek
Sławomir Glazar
Magdalena Grabiec
Adam Jędrzejczyk
Łukasz Kępczyński
Izabela Kubiak
Dorota Kucharska
Agnieszka Morel
Magdalena Owczarek
Marek Rożniecki
Jordan Sałamunia
Dominika Szewczyk
Jarosław Szwalski
Bogdan Kałużewski
author_facet Tadeusz Kałużewski
Grzegorz K. Przybylski
Michał Bednarek
Sławomir Glazar
Magdalena Grabiec
Adam Jędrzejczyk
Łukasz Kępczyński
Izabela Kubiak
Dorota Kucharska
Agnieszka Morel
Magdalena Owczarek
Marek Rożniecki
Jordan Sałamunia
Dominika Szewczyk
Jarosław Szwalski
Bogdan Kałużewski
author_sort Tadeusz Kałużewski
collection DOAJ
description Bladder cancer is one of the most common cancers in global statistics. One of the issues associated with this disease is the high incidence of cases with delayed diagnosis and what factors correlate with worse treatment outcomes. A possible reason for this may be the rather limited availability of non-invasive diagnostic tools. This short communication presents a case of a 68 year old male patient after an ineffective therapy, carried on for several years with symptoms commonly associated with prostate overgrowth that masked a carcinoma in situ of the urinary bladder. Implementation of several diagnostic techniques, including urine sediment cytology, immunocytochemistry, the fluorescence in situ hybridisation technique, the Bladder EpiCheck test and whole-genome sequencing, enabled the establishment of a correct diagnosis, implementation of appropriate treatment and provision of patient-friendly monitoring. The described case emphasises the usefulness of cell-based and liquid-based urine tests in bladder cancer diagnostic procedures.
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spelling doaj.art-ad7bb61fbe764367ade8bf427cd44a5c2023-11-21T17:54:11ZengMDPI AGJournal of Personalized Medicine2075-44262021-04-0111536210.3390/jpm11050362The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, <i>RB1</i> and <i>ERBB2</i> Somatic MutationsTadeusz Kałużewski0Grzegorz K. Przybylski1Michał Bednarek2Sławomir Glazar3Magdalena Grabiec4Adam Jędrzejczyk5Łukasz Kępczyński6Izabela Kubiak7Dorota Kucharska8Agnieszka Morel9Magdalena Owczarek10Marek Rożniecki11Jordan Sałamunia12Dominika Szewczyk13Jarosław Szwalski14Bogdan Kałużewski15Laboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandInstitute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandDepartment of Pathomorphology, District Hospital, 98-220 Zdunska Wola, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandDepartment of Urology, District Hospital, 97-500 Radomsko, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandLekarze Urolodzy Marek Rozniecki i Partnerzy, Non-Public Department of Urology, 98-100 Lask, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandCYTOPATH S.A., Histopathological Laboratory, 90-552 Lodz, PolandLaboratory of Medical Genetics of the “Genos” Partnership—R&D Division, 91-033 Lodz, PolandBladder cancer is one of the most common cancers in global statistics. One of the issues associated with this disease is the high incidence of cases with delayed diagnosis and what factors correlate with worse treatment outcomes. A possible reason for this may be the rather limited availability of non-invasive diagnostic tools. This short communication presents a case of a 68 year old male patient after an ineffective therapy, carried on for several years with symptoms commonly associated with prostate overgrowth that masked a carcinoma in situ of the urinary bladder. Implementation of several diagnostic techniques, including urine sediment cytology, immunocytochemistry, the fluorescence in situ hybridisation technique, the Bladder EpiCheck test and whole-genome sequencing, enabled the establishment of a correct diagnosis, implementation of appropriate treatment and provision of patient-friendly monitoring. The described case emphasises the usefulness of cell-based and liquid-based urine tests in bladder cancer diagnostic procedures.https://www.mdpi.com/2075-4426/11/5/362bladder cancerurinary cytologyFISHBladder EpiChecknon-invasive urine testsWGS
spellingShingle Tadeusz Kałużewski
Grzegorz K. Przybylski
Michał Bednarek
Sławomir Glazar
Magdalena Grabiec
Adam Jędrzejczyk
Łukasz Kępczyński
Izabela Kubiak
Dorota Kucharska
Agnieszka Morel
Magdalena Owczarek
Marek Rożniecki
Jordan Sałamunia
Dominika Szewczyk
Jarosław Szwalski
Bogdan Kałużewski
The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, <i>RB1</i> and <i>ERBB2</i> Somatic Mutations
Journal of Personalized Medicine
bladder cancer
urinary cytology
FISH
Bladder EpiCheck
non-invasive urine tests
WGS
title The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, <i>RB1</i> and <i>ERBB2</i> Somatic Mutations
title_full The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, <i>RB1</i> and <i>ERBB2</i> Somatic Mutations
title_fullStr The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, <i>RB1</i> and <i>ERBB2</i> Somatic Mutations
title_full_unstemmed The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, <i>RB1</i> and <i>ERBB2</i> Somatic Mutations
title_short The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, <i>RB1</i> and <i>ERBB2</i> Somatic Mutations
title_sort usefulness of cell based and liquid based urine tests in clarifying the diagnosis and monitoring the course of urothelial carcinoma identification of novel potentially actionable i rb1 i and i erbb2 i somatic mutations
topic bladder cancer
urinary cytology
FISH
Bladder EpiCheck
non-invasive urine tests
WGS
url https://www.mdpi.com/2075-4426/11/5/362
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