Detection of loss of heterozygosity in patients with urinary bladder carcinoma: neoplastic tissue vs. urine sediment cells

Traczyk, Magdalena; Borkowska, Edyta; Jędrzejczyk, Adam; Pietrusiński, Michaƚ; Rożniecki, Marek; Marks, Piotr; Kałużewski, Bogdan

doi:10.5173/ceju.2011.03.art16

Cited by 5 publications

(3 citation statements)

References 15 publications

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“…Another well tested marker are 9 chromosome deletions and loss of heterozygosity. These are mainly the changes in NMIBC and it is possible to determine their appearance both in tumour DNA and in DNA isolated from urine sediment [ 30 , 31 , 32 ]. They are observed even in 60% of cases (also confirmed by our earlier research) and can be used for detection and monitoring of the disease.…”

Section: Discussionmentioning

confidence: 99%

EORTC risk tables – their usefulness in the assessment of recurrence and progression risk in non–muscle–invasive bladder cancer in Polish patients

et al. 2013

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IntroductionThe assessment of risk of recurrence and progression of bladder cancer (BC) is still rather difficult. We decided to check the rates of the changes mentioned above in the group of the Polish patients after a year–long observation and next to compare them with the results calculated in the European Organisation of Research and Treatment of Cancer (EORTC) risk tables.MethodsThe tested group consisted of 91 patients who underwent transurethral resection of bladder tumour (TURBT). When being diagnosed, 60 cases were in the pTa clinical stage, whereas 30 cases were in T1. The coexisting carcinoma in situ (CIS) was observed in four cases. On the basis of the scores obtained from the EORTC tables, the patients were divided into the groups of low, intermediate or high risk of disease recurrence and progression.ResultsRecurrence was noticed in 23 patients (25%), while progression was observed in 11 patients (12.1%). The rate of the observed recurrences proved to be lower than it had been predicted in all the groups, except for one of the intermediate–risk group (score 1– 4). Moreover, the rate of the progressions predicted according to the EORTC risk tables was higher in all the risk groups.ConclusionsIt can be noticed that the rate of real recurrences is lower than expected, whereas the rate of the observed progressions is overestimated. Partly, it could be the result of using a relatively small group of patients for observation and applying a different method of treatment.

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Section: Discussionmentioning

confidence: 99%

EORTC risk tables – their usefulness in the assessment of recurrence and progression risk in non–muscle–invasive bladder cancer in Polish patients

et al. 2013

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“…Also, ARID1A mutations were most frequently observed in the FGFR3WT tumors, associated with poor prognosis [26], while methylation of RASSF1A in this kind of BC correlated with higher stage and grade [27]. Furthermore, data from our previous loss of heterozygosity (LOH) study indicates that LOH of the TP53, RB1 and CDKN2A/ARF genes is more often observed in >Ta and G3 tumors [28].…”

Section: Clinopathological Parametersmentioning

confidence: 99%

Genetic diversity of urinary bladder cancer and the risk of recurrence based on mutation analysis

Traczyk-Borszynska¹,

Borkowska²,

Jabłonowski³

et al. 2016

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The aim of the study was to assess the genetic diversity of bladder cancer and determine the suitability of a proposed molecular marker panel to monitor the course of bladder cancer patients. The study involved 185 patients with diagnosed bladder cancer. The genetic diversity of the bladder cancer was evaluated by the prevalence of mutations in the TP53, HRAS, FGFR3 and WWOX genes. Mutations were detected in 62.2% of the tumor samples. The most frequently mutated genes were FGFR3 (49.7%) and TP53 (16.2%). No mutation was observed in the WWOX gene. FGFR3 mutations, contrary to TP53, correlated with lower tumor stage and grade, and the presence of multiple tumors. The risk of death was significantly higher in patients with TP53 mutant tumors (HR=3.12; 95%CI: 1.14-7.27; p=0.006) but lower in patients with FGFR3 mutations (HR=0.36; 95%CI: 0.15-0.87; p=0.002). None of the investigated genes was an independent predictor of disease-specific survival, recurrence-free survival or progression-free survival. The results confirm the existence of two alternative pathways of bladder cancer. However the presence of a high percentage of wild type variants in the higher stages of the disease suggest the existence of another pathway of molecular changes leading to the development of bladder cancer. Molecular analysis may have prognostic value and may facilitate the assignment of patients to appropriate forms of treatment - especially in the case of patients with a T1 tumor, where different mutational patterns were observed in each grade.

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“…The mutations in CHEK2 (Chekpoint Kinase, IVS2 + 1G>A, 1100delC, and I157T) gene were detected using multiplex PCR . Loss of heterozygosity (LOH) for the TP53 , /ARF, and RB1 genes was studied using PCR technique with malignant and wild‐type (blood, genomic) DNA .…”

Section: Methodsmentioning

confidence: 99%

Molecular subtyping of bladder cancer using Kohonen self‐organizing maps

et al. 2014

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Kohonen self-organizing maps (SOMs) are unsupervised Artificial Neural Networks (ANNs) that are good for low-density data visualization. They easily deal with complex and nonlinear relationships between variables. We evaluated molecular events that characterize high- and low-grade BC pathways in the tumors from 104 patients. We compared the ability of statistical clustering with a SOM to stratify tumors according to the risk of progression to more advanced disease. In univariable analysis, tumor stage (log rank P = 0.006) and grade (P < 0.001), HPV DNA (P < 0.004), Chromosome 9 loss (P = 0.04) and the A148T polymorphism (rs 3731249) in CDKN2A (P = 0.02) were associated with progression. Multivariable analysis of these parameters identified that tumor grade (Cox regression, P = 0.001, OR.2.9 (95% CI 1.6–5.2)) and the presence of HPV DNA (P = 0.017, OR 3.8 (95% CI 1.3–11.4)) were the only independent predictors of progression. Unsupervised hierarchical clustering grouped the tumors into discreet branches but did not stratify according to progression free survival (log rank P = 0.39). These genetic variables were presented to SOM input neurons. SOMs are suitable for complex data integration, allow easy visualization of outcomes, and may stratify BC progression more robustly than hierarchical clustering.

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Detection of loss of heterozygosity in patients with urinary bladder carcinoma: neoplastic tissue vs. urine sediment cells

Cited by 5 publications

References 15 publications

EORTC risk tables – their usefulness in the assessment of recurrence and progression risk in non–muscle–invasive bladder cancer in Polish patients

EORTC risk tables – their usefulness in the assessment of recurrence and progression risk in non–muscle–invasive bladder cancer in Polish patients

Genetic diversity of urinary bladder cancer and the risk of recurrence based on mutation analysis

Molecular subtyping of bladder cancer using Kohonen self‐organizing maps

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