Chromosomal instability and bladder cancer: the <scp>UroVysion</scp><sup>TM</sup> test in the <scp>UroScreen</scp> study

Bonberg, Nadine; Taeger, Dirk; Gawrych, Katarzyna; Johnen, Georg; Banek, Séverine; Schwentner, Christian; Sievert, Karl‐Dietrich; Wellhäußer, Harald; Kluckert, Matthias; Leng, G.; Nasterlack, Michael; Stenzl, Arnulf; Behrens, Thomas; Brüning, Thomas; Pesch, Beate

doi:10.1111/j.1464-410x.2012.11666.x

Cited by 31 publications

(14 citation statements)

References 22 publications

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“…This difference can be due to partial aneuploidy. Of note, aneuploidy affecting chromosomes 3, 7, and 17 is extremely frequent in urothelial carcinomas [31], , and has been suggested as a potential screening test for BC [32]. Remarkably, PIK3CA gene expression did not seem to be affected by the increased copy gains.…”

Section: Discussionmentioning

confidence: 94%

PIK3CA gene alterations in bladder cancer are frequent and associate with reduced recurrence in non-muscle invasive tumors

et al. 2013

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Bladder cancer (BC) is the fifth most common cancer in the world, being the non-muscle invasive tumors (NMIBC) the most frequent. NMIBC shows a very high frequency of recurrence and, in certain cases, tumor progression. The phosphatidylinositol 3-kinase (PI3K) pathway, which controls cell growth, tumorigenesis, cell invasion and drug response, is frequently activated in numerous human cancers, including BC, in part through alterations of PIK3CA gene. However, the significance of PIK3CA gene alterations with respect to clinicopathological characteristics, and in particular tumor recurrence and progression, remains elusive. Here, we analyzed the presence of mutations in FGFR3 and PIK3CA genes and copy number alterations of PIK3CA gene in bladder tumor and their correspondent paired normal samples from 87 patients. We observed an extremely high frequency of PIK3CA gene alterations (mutations, copy gains, or both) in tumor samples, affecting primarily T1 and T2 tumors. A significant number of normal tissues also showed mutations and copy gains, being coincident with those found in the corresponding tumor sample. In low-grade tumors PIK3CA mutations associated with FGFR3 mutations. Alterations in PIK3CA gene resulted in increased Akt activity in tumors. Interestingly, the presence of PIK3CA gene alterations, and in particular gene mutations, is significantly associated with reduced recurrence of NMIBC patients. Importantly, the presence of FGFR3 mutations may influence the clinical outcome of patients bearing alterations in PIK3CA gene, and increased recurrence was associated to FGFR3 mutated, PIK3CA wt tumors. These findings may have high relevance in terms of using PI3K-targeted therapies for BC treatment.

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Section: Discussionmentioning

confidence: 94%

PIK3CA gene alterations in bladder cancer are frequent and associate with reduced recurrence in non-muscle invasive tumors

et al. 2013

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“…CNV is an important potential source of human phenotypic variation that can affect many fragments in the genome and is closely related to the mechanism of cancer. It has been found that CNV in the GSTM1 gene increases the risk of bladder cancer [19], while Tanenbaum et al found that CNV mutation in TNFRSF10C is closely associated with distant metastasis in colorectal cancer patients [20]. Thus, it can be seen that tumor CNV research is very important for future targeted therapies for tumor patients.…”

Section: Discussionmentioning

confidence: 99%

Development of a risk scoring system for evaluating the prognosis of patients with Her2-positive breast cancer

Gao

Zhuang

et al. 2020

Cancer Cell Int

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Background: As one of the many breast cancer subtypes, human epidermal growth factor receptor 2 (Her2)-positive breast cancer has higher invasiveness and poor prognosis, although the advent of anti-Her2 drugs has brought good news to patients. However, the emergence of drug resistance still limits its clinical efficacy, so there is an urgent need to explore new targets and develop a risk scoring system to improve treatments and evaluate patient prognosis.Methods: Differentially expressed mRNAs associated with Her2-positive breast cancer were screened from a TCGA cohort. The prognostic risk scoring system was constructed according to univariate and Lasso Cox regression model analyses and combined with clinical factors (such as age and TNM) for univariate and multivariate analyses to verify the specificity and sensitivity of the risk scoring system. Finally, based on correlation and CNV mutation analyses, we explored the research value of the mRNAs involved in the system as key genes of the model. Results:In this study, six mRNAs were screened and identified to construct a prognostic risk scoring system, including four up-regulated mRNA (RDH16, SPC25, SPC24, and SCUBE3) and two down-regulated mRNA (DGAT2 and CCDC69). The risk scoring system can divide Her2-positive breast cancer samples into high-risk and low-risk groups to evaluate patient prognosis. In addition, whether through the time-dependent receiver operating characteristics curve or compared with clinical factors, the risk scoring system showed high predictive sensitivity and specificity. Moreover, some CNV mutations in mRNA increase patient risk by influencing expression levels.Conclusion: The risk scoring system constructed in this study is helpful to improve the screening of high-risk patients with Her2-positive breast cancer and is beneficial for implementing early diagnosis and personalized treatment. It is suggested that these mRNAs may play an important role in the progression of Her2-positive breast cancer.

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“…The authors propose that a simpler and more cost effective method could utilize detection of only chromosomal gain in any one of the chromosomes 3, 7 or 17. [26]…”

Section: Molecular Testing In Urine Cytology – a Diagnostic And Prognmentioning

confidence: 99%

Utility of molecular tests in cytopathology

Somoza

Aly

2014

CytoJournal

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With the popularity of interventional radiology, diagnostic material obtained can be limited requiring critical decisions on making the best use of it. Molecular testing using nanogram amounts of tissue can add useful diagnostic information by improving sensitivity and/or specificity of the diagnosis. This review examines the use of molecular tests in cervical cytology, “indeterminate” thyroid cytology specimens, pancreatic cyst fluid, urinary tract and pulmonary adenocarcinoma cytologic material. Molecular human papillomavirus (HPV) testing combined with cervical cytology increases sensitivity of detection of high grade lesions. In cytologically negative cases, the HPV negative predictive value endorses longer screening intervals. With the high prevalence of benign thyroid nodules, cytology plays a vital role in screening. However, 10-40% of the specimens obtained are cytologically indeterminate. Molecular analysis of these specimens can predict the malignant risk in these cases. Increased detection of pancreatic cysts has necessitated accurate pre-operative diagnosis delineating non-mucinous from mucinous cysts, which have a potential for progression to adenocarcinoma. Multimodal diagnosis of pancreatic cysts and molecular analysis help to clarify neoplastic risk; and in cases of limited fluid, may be the only available diagnostic information. Urothelial carcinoma (UC) of the bladder, a common cancer with frequent recurrences, requires lifelong surveillance. The UroVysion ™ test kit can increase the sensitivity of detection of UC especially in cases of residual/recurrent carcinoma after therapy. Subsets of lung adenocarcinomas are now commonly targeted by therapies based on molecular mutation results of epidermal growth factor receptor, KRAS or echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase re-arrangements. The move toward standardization of reporting of cytology specimens commencing with cervical smears and more recently, thyroid cytology specimens is also changing the practice of cytopathology. Combining the stringent cytology criteria with ancillary molecular testing is expected to yield more discrete and diagnostic categories for research and reporting. The profession is at an exciting point of implementing novel molecular markers to refine diagnostic criteria and create clinically relevant classification systems.

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Chromosomal instability and bladder cancer: the UroVysion^TM test in the UroScreen study

Cited by 31 publications

References 22 publications

PIK3CA gene alterations in bladder cancer are frequent and associate with reduced recurrence in non-muscle invasive tumors

PIK3CA gene alterations in bladder cancer are frequent and associate with reduced recurrence in non-muscle invasive tumors

Development of a risk scoring system for evaluating the prognosis of patients with Her2-positive breast cancer

Utility of molecular tests in cytopathology

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Chromosomal instability and bladder cancer: the UroVysionTM test in the UroScreen study

Cited by 31 publications

References 22 publications

PIK3CA gene alterations in bladder cancer are frequent and associate with reduced recurrence in non-muscle invasive tumors

PIK3CA gene alterations in bladder cancer are frequent and associate with reduced recurrence in non-muscle invasive tumors

Development of a risk scoring system for evaluating the prognosis of patients with Her2-positive breast cancer

Utility of molecular tests in cytopathology

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Chromosomal instability and bladder cancer: the UroVysion^TM test in the UroScreen study