Purpose - Implementation of multiparametric magnetic resonance imaging (mpMRI) for prostate adenocarcinoma's variant pathology requires awareness. The aim of this retrospective study was to investigate the discriminant efficacy of multiparametric magnetic resonance imaging modality for variant pathology associated with prostate adenocarcinoma. Methods - Consecutive 247 prostate cancer patients who underwent radical prostatectomy in our university-based hospital between October 2014 and October 2019, were retrospectively reviewed. Data of mpMRI-associated contrast enhancements, T2 signals, apparent diffusion coefficients (ADC), ages and PSA values were compared. Clinical and demographic data of patients were noted including associated variant pathologies and reports of preoperative mpMRI images. Results - Among the patients, 63 (26%) had variant pathology and 14 (22%) had mpMRI before primary prostate biopsy. The group with variant pathology and the control group had similar perfusion curves and increased contrast when compared for mpMRI parameters, but different ADC values for each of the adjusted b-values for 400, 800 and 1400. Conclusion - Our study demonstrates that mpMRI appears to have no role in distinguishing rare variant pathologies associated with prostate adenocarcinoma despite different ADC values.
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http://dx.doi.org/10.22037/uj.v20i.7468 | DOI Listing |
J Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFNat Immunol
January 2025
Department of Pathology & Medical Biology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.
View Article and Find Full Text PDFNPJ Precis Oncol
January 2025
Duke Cancer Institute Center for Prostate & Urologic Cancers, Duke University School of Medicine, Durham, NC, 27710, USA.
Black men suffer disproportionately from prostate cancer (PCa) compared to men of other races and ethnicities. Comparing the molecular landscape of PCa among Black and White patients has the potential to identify targets for development of new precision medicine interventions. Herein, we conducted transcriptomic analysis of prostate tumors and paired tumor-adjacent normals from self-reported Black and White PCa patients and estimated patient genetic ancestry.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
ETV6::RUNX1 is the most common fusion gene in childhood acute lymphoblastic leukemia (ALL) associated with favorable prognosis, but the optimal therapy for this subtype remains unclear. Profiling the genomic and pharmacological landscape of 194 pediatric ETV6::RUNX1 ALL cases, we uncover two transcriptomic clusters, C1 (61%) and C2 (39%). Compared to C1, the C2 subtype features higher white blood cell counts and younger age at diagnosis, as well as better early treatment responses.
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