Objective: To understand the feasibility of FGFR3 tests in the Brazilian public health context, and to sample the mutational burden of this receptor in high-grade muscle invasive bladder cancer.
Methods: A total of 31 patients with high-grade muscle-invasive bladder cancer were included in the present study. Either transurethral resection of bladder tumor or radical cystectomy specimens were analyzed. Formalin-fixed paraffin-embedded tissue blocks were sectioned, hematoxylin and eosin stained, and histologic sections were reviewed. Total RNA was extracted using the RNeasy DSP formalin-fixed paraffin-embedded kit. Qualitative results were displayed in Rotor-Gene AssayManager software.
Results: Six patients were excluded. From the samples analyzed, four (16.7%) were considered inadequate and could not have their RNA extracted. Two patients presented FGFR3 mutations, accounting for 9.5% of material available for adequate analysis. The two mutations detected included a Y373C mutation in a male patient and a S249C mutation in a female patient.
Conclusion: FGFR3 mutations could be analyzed in 84% of our cohort and occurred in 9.5% of patients with high-grade muscle invasive bladder cancer in this Brazilian population. FGFR3 gene mutations are targets for therapeutic drugs in muscle-invasive bladder cancer. For this reason, know the frequency of these mutations can have a significant impact on public health policies and costs provisioning.
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http://dx.doi.org/10.31744/einstein_journal/2022AO6450 | DOI Listing |
Onco Targets Ther
December 2024
Department of Surgery, Shenzhen Traditional Chinese Medicine Hospital, The Fourth Clinical Medical School of Guangzhou University of Chinese Medicine, Shenzhen, People's Republic of China.
Introduction: The FGFR3-TACC3 fusion gene exists in a variety of malignant tumors, including bladder cancer. In our ongoing research on the CRISPR-Cas13a gene-editing system, we reported the use of CRISPR-Cas13a gene-editing system to knockout FGFR3-TACC3 and inhibit the proliferation of bladder tumor cells.
Purpose: This study aimed to use the CRISPR-Cas13a gene-editing system to target the FGFR3-TACC3 fusion gene in bladder cancer cells, which has the potential to be a new and effective treatment for bladder cancer.
Eur Urol Open Sci
January 2025
Department of Urology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Background And Objective: The role of genetic variants in response to systemic therapy in muscle-invasive bladder cancer (MIBC) is still elusive. We assessed variations in genes involved in DNA damage repair (DDR) before and after cisplatin-based neoadjuvant chemotherapy (NAC) and correlation of alteration patterns with DNA damage and response to therapy.
Methods: Matched tissue from 46 patients with MIBC was investigated via Ion Torrent-based next-generation sequencing using a self-designed panel of 30 DDR genes.
Int J Part Ther
December 2024
National Center for Radiation Research in Oncology (NCRO), Heidelberg Institute for Radiation Oncology (HIRO), Heidelberg, Germany.
Purpose: We aim to assess the magnetic resonance imaging (MRI)-to-CT deformable image registration (DIR) quality of our treatment planning system in the pelvic region as the first step of an online MRI-guided particle therapy clinical workflow.
Materials And Methods: Using 2 different DIR algorithms, ANAtomically CONstrained Deformation Algorithm (ANACONDA), the DIR algorithm incorporated in RayStation, and Elastix, an open-source registration software, we retrospectively assessed the quality of the deformed CT (dCT) generation in the pelvic region for 5 patients. T1- and T2-weighted daily control MRI acquired prior to treatment delivery were used for the DIR.
Cureus
November 2024
Department of Nephrology, Toho University Sakura Medical Center, Sakura, JPN.
Hyperchloremic metabolic acidosis is a known complication following ileal conduit urinary diversion, often arising from urinary reabsorption in the ileum, which leads to chloride retention and bicarbonate loss and, though often asymptomatic, can produce clinically significant symptoms, particularly in patients with underlying renal impairment. A 75-year-old woman with a history of bladder cancer underwent cystectomy with ileal conduit diversion and presented on postoperative day 47 with anorexia, hypotension, and weight loss; laboratory findings revealed hyperchloremic metabolic acidosis with elevated serum chloride. The patient's acidosis gradually improved with sodium bicarbonate and Ringer's solution, stabilizing her blood pressure, creatinine, and acid-base balance, and she was discharged with outpatient follow-up.
View Article and Find Full Text PDFJ Transl Med
December 2024
Medical Cosmetic Center, First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, 515041, People's Republic of China.
Objective: The evaluation of the efficacy of immunotherapy is of great value for the clinical treatment of bladder cancer. Graph Neural Networks (GNNs), pathway analysis and multi-omics analysis have shown great potential in the field of cancer diagnosis and treatment.
Methods: A GNNs model was constructed to predict the immunotherapy response and identify key pathways.
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