Publications by authors named "J-M Mosquera"
Article Synopsis
- Advanced urothelial cancer displays significant genetic diversity and involves complex interactions between internal and external mutagens, which contributes to its deadly nature.
- The study revealed that APOBEC3-induced mutations occur early during tumor development, while chemotherapy leads to a surge of later mutations, with both processes affecting the structure of extrachromosomal DNA.
- Findings emphasized the role of circular ecDNA in the development of treatment resistance, specifically through CCND1 amplifications, highlighting key mechanisms that can inform future cancer therapies.
Imine self-assembly stands as a potent strategy for the preparation of molecular organic cages. However, challenges persist, such as water insolubility and limited recognition properties due to constraints in the application of specific components during the self-assembly process. In this study, we addressed these limitations by initially employing a locking strategy, followed by a postassembly modification.
View Article and Find Full Text PDFObjective: To report on the incidental finding of invasive seminoma in a patient with nonobstructive azoospermia during microdissection testicular sperm extraction.
Design: Case report.
Patients: A single patient diagnosed with nonobstructive azoospermia underwent microdissection testicular sperm extraction, and an incidental finding of invasive seminoma was made upon histopathological analysis.
Background: Approximately 20% of patients with non-small-cell lung cancer (NSCLC) receive a diagnosis of stage III disease. There is no current consensus regarding the most appropriate treatment for these patients.
Methods: In this open-label, phase 2 trial, we randomly assigned patients with resectable stage IIIA or IIIB NSCLC to receive neoadjuvant nivolumab plus platinum-based chemotherapy (experimental group) or chemotherapy alone (control group), followed by surgery.
Following treatment with androgen receptor (AR) pathway inhibitors, ≈20% of prostate cancer patients progress by shedding their AR-dependence. These tumors undergo epigenetic reprogramming turning castration-resistant prostate cancer adenocarcinoma (CRPC-Adeno) into neuroendocrine prostate cancer (CRPC-NEPC). No targeted therapies are available for CRPC-NEPCs, and there are minimal organoid models to discover new therapeutic targets against these aggressive tumors.
View Article and Find Full Text PDFArticle Synopsis
- Fresh frozen (FF) tissues are ideal for RNA sequencing (RNA-seq), but most clinical samples are stored as formalin-fixed, paraffin-embedded (FFPE) tissues, creating a challenge for RNA-seq implementation in clinical settings.
- The study analyzed 32 FFPE tumor samples from 11 patients using three different exome capture methods and compared the results with RNA-seq from matching FF samples to evaluate their effectiveness.
- The findings showed high correlation between the expression profiles of FFPE and FF samples, indicating that exome capture methods can reliably detect important gene expressions and mutations, paving the way for their use in precision oncology.
The prevalence and biological consequences of deleterious germline variants in urothelial cancer (UC) are not fully characterized. We performed whole-exome sequencing (WES) of germline DNA and 157 primary and metastatic tumors from 80 UC patients. We developed a computational framework for identifying putative deleterious germline variants (pDGVs) from WES data.
View Article and Find Full Text PDFGenomic correlates of clinical outcome in advanced prostate cancer.
Proc Natl Acad Sci U S A
June 2019
Heterogeneity in the genomic landscape of metastatic prostate cancer has become apparent through several comprehensive profiling efforts, but little is known about the impact of this heterogeneity on clinical outcome. Here, we report comprehensive genomic and transcriptomic analysis of 429 patients with metastatic castration-resistant prostate cancer (mCRPC) linked with longitudinal clinical outcomes, integrating findings from whole-exome, transcriptome, and histologic analysis. For 128 patients treated with a first-line next-generation androgen receptor signaling inhibitor (ARSI; abiraterone or enzalutamide), we examined the association of 18 recurrent DNA- and RNA-based genomic alterations, including androgen receptor () variant expression, AR transcriptional output, and neuroendocrine expression signatures, with clinical outcomes.
View Article and Find Full Text PDFPurpose: The transition of prostate adenocarcinoma to a predominantly androgen receptor (AR) signaling independent phenotype can occur in the later stages of the disease and is associated with low AR expression +/- the development of small-cell or neuroendocrine tumor characteristics. As metastatic tumor biopsies are not always feasible and are difficult to repeat, we sought to evaluate noninvasive methods to identify patients transitioning toward a neuroendocrine phenotype (NEPC).
Experimental Design: We prospectively studied a metastatic tumor biopsy, serum biomarkers, and circulating tumor cells (CTC, Epic Sciences) from patients with castration-resistant prostate cancer (CRPC) including those with pure or mixed NEPC histology present on biopsy.