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, RB1 and ERBB2 Somatic Mutations

被引:0
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作者
Kaluzewski, Tadeusz [1 ,2 ]
Przybylski, Grzegorz K. [3 ,4 ]
Bednarek, Michal [1 ]
Glazar, Slawomir [5 ]
Grabiec, Magdalena [1 ]
Jedrzejczyk, Adam [6 ]
Kepczynski, Lukasz [1 ,2 ]
Kubiak, Izabela [1 ]
Kucharska, Dorota [1 ]
Morel, Agnieszka [1 ]
Owczarek, Magdalena [1 ]
Rozniecki, Marek [7 ]
Salamunia, Jordan [1 ]
Szewczyk, Dominika [1 ]
Szwalski, Jaroslaw [8 ]
Kaluzewski, Bogdan [1 ]
机构
[1] Genos Partnership R&D Div, Med Genet Lab, PL-91033 Lodz, Poland
[2] Polish Mothers Mem Hosp Res Inst, Dept Genet, PL-93338 Lodz, Poland
[3] Polish Acad Sci, Inst Human Genet, PL-60479 Poznan, Poland
[4] MyGenome Lab, PL-60461 Poznan, Poland
[5] Dist Hosp, Dept Pathomorphol, PL-98220 Zdunska Wola, Poland
[6] Dist Hosp, Dept Urol, PL-97500 Radomsko, Poland
[7] Lekarze Urol Marek Rozniecki & Partnerzy, Nonpubl Dept Urol, PL-98100 Lask, Poland
[8] CYTOPATH SA, Histopathol Lab, PL-90552 Lodz, Poland
来源
JOURNAL OF PERSONALIZED MEDICINE | 2021年 / 11卷 / 05期
关键词
bladder cancer; urinary cytology; FISH; Bladder EpiCheck; non-invasive urine tests; WGS; urinary carcinoma; INVASIVE BLADDER-CANCER; METHYLATION;
D O I
10.3390/jpm11050362
中图分类号
R19 [保健组织与事业(卫生事业管理)];
学科分类号
摘要
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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页数:18
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