Purpose: Prostate-specific membrane antigen (PSMA) positron emission tomography (PSMA-PET) is an ideal tool for staging and restaging of prostate cancer (PCa). This study was designed to investigate the prognostic role of preoperative Ga-PSMA-11 PET/CT in predicting pathological upgrading from multiparametric magnetic resonance imaging-targeted biopsy (mpMRI-TB) to final radical prostatectomy (RP) specimens in patients with localized PCa.
Methods: A total of 67 biopsy-confirmed localized PCa patients with mpMRI and Ga-PSMA-11 PET/CT prior to RP were included. Clinical and imaging characteristics derived from mpMRI and PET/CT were compared in patients with or without pathological upgrading. Predictors for pathological upgrading were evaluated by using univariate and multivariable analyses. A prediction model was developed based on the identified parameters and validated using internal validation.
Results: Pathological upgrading from mpMRI-TB to final RP specimens occurred in 38.8% (26/67) of the patients. Multivariable logistic regression analysis showed SUV (OR: 1.223, 95% CI 1.068-1.399, p = 0.003); highest tumor grade at mpMRI-TB, ISUP grade group (ISUP GG) 1 vs. 4 (OR: 0.11, 95% CI 0.000-0.452, p = 0.018) and ISUP GG 2 vs. 4 (OR: 0.16, 95% CI 0.001-0.252, p = 0.003); and multifocality on PET/CT (OR: 9.821, 95% CI 1.438-67.085, p = 0.02) were independent risk factors for pathological upgrading. Our developed prediction model based on the identified parameter showed good calibration at internal validation (mean absolute error = 0.033).
Conclusion: Ga-PSMA-11 PET/CT was found to be an ideal biomarker for the prediction of pathological upgrading from mpMRI-TB to RP, especially for patients with lower tumor grade at mpMRI-TB.
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http://dx.doi.org/10.1007/s00259-021-05217-2 | DOI Listing |
Genes (Basel)
January 2025
Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON N6A 5B7, Canada.
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase () cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) phenotype ranging from normal to severe hypertriglyceridemia (HTG), with longitudinal variation in phenotype severity seen often in a given carrier. Here, we provide an updated overview of genetic variation in in the context of HTG, with a focus on disease-causing and/or disease-associated variants.
View Article and Find Full Text PDFGenes (Basel)
December 2024
The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.
Background: An estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, NM_000390.
View Article and Find Full Text PDFActa Diabetol
January 2025
Adelaide Medical School, University of Adelaide, Adelaide, Australia.
Aims: To assess the utility of reanalysing GCK variants of uncertain significance (VUS) as an intervention to improve the detection of monogenic diabetes.
Methods: We examined GCK VUS in a local cohort of individuals with suspected monogenic diabetes and re-curated each variant against the recent ClinGen GCK-specific variant classification guidelines.
Results: Variant reanalysis achieved a new 'likely pathogenic' classification (i.
J Clin Med
December 2024
Multidisciplinary Breast Centre, Dipartimento Scienze della Salute della Donna e del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
: B3 breast lesions, characterized by uncertain malignant potential, pose a significant challenge for clinicians. With the increasing use of preoperative biopsies, there is a need for careful management strategies, including watchful waiting, vacuum-assisted excision (VAE), and surgery. This study aims to assess the concordance between preoperative biopsy findings and postoperative histology, with a focus on evaluating the positive predictive value (PPV) for malignancy in B3 lesions.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.
Background: The 5-year prognosis of non-high-risk neuroblastomas is generally good (>90%). However, a proportion of patients show progression and succumb to their disease. We aimed to identify molecular aberrations (not incorporated in the current risk stratification) associated with overall survival (OS) and/or event-free survival (EFS) in patients diagnosed with non-high-risk neuroblastoma.
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