scholarly journals Integrative Analysis of 1q23.3 Copy-Number Gain in Metastatic Urothelial Carcinoma

2014 ◽  
Vol 20 (7) ◽  
pp. 1873-1883 ◽  
Author(s):  
Markus Riester ◽  
Lillian Werner ◽  
Joaquim Bellmunt ◽  
Shamini Selvarajah ◽  
Elizabeth A. Guancial ◽  
...  
Keyword(s):  
Urothelial Carcinoma ◽  
Copy Number ◽  
Copy Number Gain ◽  
Integrative Analysis ◽  
Metastatic Urothelial Carcinoma

Genomic characterization of metastatic urothelial carcinoma.

2013 ◽  
Vol 31 (6_suppl) ◽  
pp. 247-247
Author(s):  
Richard M. Bambury ◽  
Markus Riester ◽  
Joaquim Bellmunt ◽  
Edward C. Stack ◽  
Lillian Werner ◽  
...  
Keyword(s):  
Urothelial Carcinoma ◽  
Cancer Progression ◽  
Copy Number ◽  
Copy Number Gain ◽  
Genetic Profile ◽  
Primary Tumors ◽  
Metastatic Tissue ◽  
Molecular Inversion Probe Array ◽  
Molecular Inversion Probe ◽  
Probe Array

247 Background: The genetic profile of primary urothelial carcinoma (UC) has been well documented but no reports analyze specific chromosomal alterations in metastatic disease. We performed molecular inversion probe array (MIP) analysis to compare chromosomal gains or losses in metastatic and primary UC samples. Methods: 33 samples of metastatic UC and 30 primary samples were analyzed from 48 patients (pts), of which paired primary and metastatic tissue was available for 14 pts. DNA from all samples was subjected to molecular inversion probe array analysis to identify focal areas of copy number gain (CNG) or loss (CNL). We focused this analysis on 21 genes from signaling pathways known to be of interest in UC (Table). CNG or CNL was defined as a log2 copy number ratio ≥ 0.8 or ≤ -0.8. GISTIC 2.0 was used to identify significantly altered regions. Results: In the loci analyzed, there were significantly more alterations in metastases than primary samples (8.4% vs 4.3% p=0.002). In particular, there was a significantly higher frequency of E2F3CNG in metastases (27% vs 7% p=0.046). There was frequent discordance in alterations when comparing primary and metastatic tissue from the same patients: 7 of 14 pts harbored potentially oncogenic CNG/CNL in their metastases that were not present in the primary. Conclusions: More alterations in UC-relevant genes were identified in metastases compared with primary tumors, in keeping with the multistep model of cumulative genetic change in cancer progression. More frequent CNG of the E2F3 gene was noted and may represent a mechanism of UC progression. Frequent discordance in alterations between primaries and metastases may be of significant clinical relevance in the future when selecting patients for appropriate molecularly targeted therapy. [Table: see text]

scholarly journals DNA copy number analysis of metastatic urothelial carcinoma with comparison to primary tumors

BMC Cancer ◽  
2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Richard M Bambury ◽  
Ami S Bhatt ◽  
Markus Riester ◽  
Chandra Sekhar Pedamallu ◽  
Fujiko Duke ◽  
...  
Keyword(s):  
Urothelial Carcinoma ◽  
Copy Number ◽  
Copy Number Analysis ◽  
Dna Copy Number ◽  
Primary Tumors ◽  
Metastatic Urothelial Carcinoma

Atezolizumab-induced myositis and myocarditis in a patient with metastatic urothelial carcinoma

2020 ◽  
Vol 13 (12) ◽  
pp. e236357
Author(s):  
Mary Sessums ◽  
Siva Yarrarapu ◽  
Pramod K Guru ◽  
Devang K Sanghavi
Keyword(s):  
Urothelial Carcinoma ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitors ◽  
Checkpoint Inhibitors ◽  
Basic Knowledge ◽  
Malignant Neoplasms ◽  
Diverse Range ◽  
History Of ◽  
Metastatic Urothelial Carcinoma ◽  
Acute Hypercapnic Respiratory Failure

Immune checkpoint inhibitors have revolutionised cancer therapy in the past decade. Although they have been indicated to treat a diverse range of malignant neoplasms, they are also associated with various immune-related adverse effects. We report the case of a 74-year-old man with a history of urothelial carcinoma who had atezolizumab-induced myocarditis and myositis resulting in acute hypercapnic respiratory failure, despite the discontinuation of atezolizumab and aggressive treatment with corticosteroids. This case highlights the importance of a multidisciplinary approach for early diagnosis and treatment of immune-related adverse events. Physicians must be aware of the risks associated with immune checkpoint inhibitors and have a basic knowledge regarding their management.

First Report of Oncological Outcome and Prognostic Analysis in a First-Line Setting of Short Hydration Gemcitabine and Cisplatin Chemotherapy for Patients with Metastatic Urothelial Carcinoma

Oncology ◽  
2021 ◽  
pp. 1-10
Author(s):  
Taku Naiki ◽  
Takashi Nagai ◽  
Yosuke Sugiyama ◽  
Toshiki Etani ◽  
Satoshi Nozaki ◽  
...  
Keyword(s):  
Urothelial Carcinoma ◽  
Risk Index ◽  
Objective Response ◽  
Oncological Outcome ◽  
Nutritional Risk ◽  
First Line ◽  
Prognostic Analysis ◽  
Nutritional Risk Index ◽  
Metastatic Urothelial Carcinoma ◽  
Gemcitabine And Cisplatin

<b><i>Objectives:</i></b> The aim of the study was to examine the effectiveness of a modified-short hydration gemcitabine and cisplatin (m-shGC) regimen for patients with metastatic urothelial carcinoma (mUC) and to assess the efficacy of a geriatric nutritional risk index (GNRI) with regard to prognosis. <b><i>Patients and Methods:</i></b> From January 2016 to July 2020, 68 patients with mUC underwent first-line m-shGC therapy with 70 mg/m<sup>2</sup> cisplatin and 1,000 mg/m<sup>2</sup> gemcitabine (days 1, 8, and 15), with 2,050 mL fluid replaced on the first day of each 28-day cycle. Prior to the start of treatment, the serum neutrophil-to-lymphocyte ratio (NLR), and levels of albumin and C-reactive protein (CRP) in serum, as well as body heights and weights were measured. Patients were grouped according to GNRI &#x3c;92 (low) or ≥92 (high). The analysis of data was done retrospectively. <b><i>Results:</i></b> Median follow-up was found to be 12.9 (range 1.7–50.2) months and the objective response rate (ORR) was 54.4% after m-shGC treatment. The ORR was significantly different when high and low-GNRI groups were compared (ORR: 28.0 vs. 69.8% in low- vs. high-GNRI groups). Median overall survival (OS) was calculated as 8.6 (95% confidence interval [CI]: 5.4–21.3) and 34.5 (95% CI: 20.5–NA) months for low- and high-GNRI groups, respectively (<i>p</i> &#x3c; 0.0001). Unlike for NLR and CRP, univariate and multivariate analyses revealed that low GNRI and visceral metastases were significant prognostic factors for short OS. <b><i>Conclusions:</i></b> First-line m-shGC showed a survival benefit for mUC, with GNRI a useful prognostic biomarker.

Fibroblast Growth Factor Receptor Inhibitor–Associated Multifocal Serous Retinal Detachments: A Case Report

2021 ◽  
pp. 247412642110136
Author(s):  
Diana H. Kim ◽  
Tian Xia ◽  
Peter Bracha ◽  
Brian L. VanderBeek
Keyword(s):  
Case Report ◽  
Growth Factor ◽  
Urothelial Carcinoma ◽  
Fibroblast Growth Factor ◽  
Fibroblast Growth Factor Receptor ◽  
Growth Factor Receptor ◽  
Fibroblast Growth ◽  
Metastatic Urothelial Carcinoma ◽  
Optical Coherence Tomography Imaging ◽  
Receptor Inhibitor

Purpose: This report aims to describe a case of bilateral, multifocal neurosensory retinal detachments that developed during erdafitinib therapy for metastatic urothelial carcinoma. Methods: A case report with color fundus imaging and spectral-domain optical coherence tomography imaging is presented. Results: A 50-year-old man with metastatic urothelial carcinoma had an unremarkable baseline ophthalmic examination prior to starting erdafitinib. At 3-month follow up, an examination revealed bilateral, multifocal retinal detachments. Because the patient was asymptomatic and erdafitinib was the only drug to which his tumor had responded, he was kept on the medication with close ophthalmic monitoring. Conclusions: Erdafitinib, a fibroblast growth factor receptor inhibitor, can cause bilateral, multifocal retinal detachments. Continuation of erdafitinib may be considered in patients without significant visual impairment when the overall benefit of the medication appears to outweigh the risks.

scholarly journals Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans

2021 ◽  
Vol 11 (1) ◽  
pp. 33
Author(s):  
Nayoung Han ◽  
Jung Mi Oh ◽  
In-Wha Kim
Keyword(s):  
Copy Number ◽  
Genome Wide Association Study ◽  
Copy Number Gain ◽  
Copy Number Variations ◽  
Gene Gain ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Haplotype Blocks ◽  
Genome Wide ◽  
Control And Prevention

For predicting phenotypes and executing precision medicine, combination analysis of single nucleotide variants (SNVs) genotyping with copy number variations (CNVs) is required. The aim of this study was to discover SNVs or common copy CNVs and examine the combined frequencies of SNVs and CNVs in pharmacogenes using the Korean genome and epidemiology study (KoGES), a consortium project. The genotypes (N = 72,299) and CNV data (N = 1000) were provided by the Korean National Institute of Health, Korea Centers for Disease Control and Prevention. The allele frequencies of SNVs, CNVs, and combined SNVs with CNVs were calculated and haplotype analysis was performed. CYP2D6 rs1065852 (c.100C>T, p.P34S) was the most common variant allele (48.23%). A total of 8454 haplotype blocks in 18 pharmacogenes were estimated. DMD ranked the highest in frequency for gene gain (64.52%), while TPMT ranked the highest in frequency for gene loss (51.80%). Copy number gain of CYP4F2 was observed in 22 subjects; 13 of those subjects were carriers with CYP4F2*3 gain. In the case of TPMT, approximately one-half of the participants (N = 308) had loss of the TPMT*1*1 diplotype. The frequencies of SNVs and CNVs in pharmacogenes were determined using the Korean cohort-based genome-wide association study.

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