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Tyrer-Cuzick lifetime risk is not associated with non-BRCA1/2 pathogenic variants for breast carcinoma
No full textBackground: The Tyrer-Cuzick (TC) or IBIS risk calculator is a widely used tool to estimate the probability of developing breast cancer. The latest version incorporates various factors to assess the risk of breast cancer, including family history, personal history, breast density, and past medical history. The TC is commonly used to guide patients toward further diagnostic imaging, genetic testing, chemoprevention, or risk-reducing surgery. However, it is unclear whether the TC is associated with non-BRCA1/2 pathogenic variants (PVs) in breast cancer susceptibility genes.
Methods: A population of 964 patients with TC was evaluated for 12 PVs and variants of unknown significance (VUS) using lab-agnostic genetic testing. Patients were enrolled from 2019 to 2022. Historical TC were used for the subgroup of patients who developed breast cancer after enrollment. TC scores were compared between the three patient cohorts that had BRCA gene mutations, non-BRCA PVs, and negative for PVs, using the Kruskal-Wallis test followed by pairwise comparison using DSCF adjustment for multiple comparisons. Data collection for patient cohorts occurred simultaneously and was only separated in analysis. Logistic regression was carried out to predict BRCA versus negative in a model with TC scores, as well as non-BRCA versus negative. Area under the receiver operating characteristic (ROC) curve (AUC) was calculated to assess model fit.
Results: This study found an average TC of 7.71%. A family history of cancer was noted in 78.30% of patients, and a personal history of cancer other than breast occurred in 20.74% of patients. The presence of PVs and VUS was evaluated, and 12.03% of patients were found to have a PV, with an average TC of 8.98%. The most common PVs were CHEK2, BRCA2, BRCA1, and BARD1. Out of those with PVs, 52% had non-BRCA1/2 PVs with an average TC of 5.47%. A total of 102 patients (10.58%) had a VUS, with an average TC of 8.29%. In further statistical analysis, TC were distributed significantly differently among the three groups, with differences observed between the BRCA group and negative group, as well as between BRCA and non-BRCA1/2 PVs group. A higher TC was also associated with BRCA1/BRCA2 variants compared to non-BRCA1/2 PVs.
Conclusion: TC scores provide valuable information regarding the lifetime risk of an individual of developing breast cancer. However, the study found they were not associated with prediction of non-BRCA1/2 PVs. When choosing a genetic testing panel for breast cancer genes, TC is not as a reliable predictor on individual patient\u27s family history, NCCN guidelines, or ASBrS guidelines. Our study supports the need to develop a genetic risk calculator that incorporates the predictive value for these non-BRCA1/2 PVs in otherwise low or average TC women
Inside Aurora Sinai Medical Center, 2004 October
No full textAurora Sinai Medical Center, Milwaukee, WI: Internal employee newsletter with workplace anniversaries, news, and events.
This is the last issue of this newsletter with this title. It continues as Aurora Sinai Exchange.https://institutionalrepository.aah.org/alldocuments/2266/thumbnail.jp
The Silk Vista Baby Study: A multicenter aneurysm report from North America and Europe
No full textBackground and objectives: The Silk Vista Baby (SVB) flow diverter (FD) stent (Balt SAS) is the first device designed for treating distally located brain aneurysms. It can be delivered through a 0.017-inch ID microcatheter, enabling access to small, distal vessels. The aim of this study was to evaluate the effectiveness, safety, technical success, occlusion rate, and clinical outcomes of the SVB device.
Methods: This retrospective, multicenter study included data from 18 centers from November 2023 to September 2024. Procedures were performed by experienced neurointerventionalists following institutional standards of care. Outcomes analyzed included effectiveness, safety, and aneurysm occlusion rates. Descriptive analyses and Pearson χ2 or Independent t-Test were used for statistical evaluation.
Results: A total of 95 patients, mean age 55.4 years, were included. A total of 31% of aneurysms were ruptured at admission. Most (58.3%) were located in the anterior circulation, and 45% had previous treatment, mainly coiling (69.4%). Complication rates were higher for ruptured aneurysms (24.1%) compared with unruptured ones (9.2%). Two deaths occurred, 1 (1.1%) related to the procedure. At discharge, 87% of patients had modified Rankin Scale ≤2. The latest follow-up showed overall complete/near-complete occlusion rates of 76.1%, with 81.14% for ruptured and 73.43% for unruptured aneurysms. Technical success was higher in unruptured cases (100% vs 93.1%).
Conclusion: Our case series demonstrated the efficacy of the SVB with a high rate of technical success. The occlusion rates for ruptured cases are comparable with those of other FDs. However, the rates are lower for unruptured cases. This discrepancy is likely due to the characteristics of the aneurysms, particularly in the presence of side branches in bifurcation lesions. The SVB safety profile is similar to other FDs in unruptured cases, while the ruptured group presented more complications
Multimodality imaging in hypertrophic cardiomyopathy
No full textThe diagnosis and management of hypertrophic cardiomyopathy (HCM) requires accurate and comprehensive imaging. Advances in imaging technology and clinical understanding have significantly enhanced the ability to characterize the phenotype, assess risk, monitor disease progression, and guide therapy. This article highlights the complementary roles of echocardiography, cardiac magnetic resonance, computed tomography, and nuclear imaging in the evaluation of HCM and explores emerging research and innovation that are shaping future diagnostic and therapeutic strategies
History of bronchoscopy: From inception to the modern era of interventional pulmonology
No full textPurpose of review: This review traces the historical evolution of bronchoscopy, from its origins in the late nineteenth century to its current role as a central tool in interventional pulmonology. It highlights major technological and clinical milestones and considers how early innovations continue to shape modern practices. As bronchoscopy enters the era of robotics and artificial intelligence, this reflection offers a timely perspective on its future trajectory.
Recent findings: Advances in both rigid and flexible bronchoscopy have enhanced visualization, navigation, and therapeutic precision. Interventions such as airway stenting, cryotherapy, endobronchial valve placement, and nonthermal ablation are now routine. These developments build on historical foundations and support a more targeted, minimally invasive approach to pulmonary intervention.
Summary: The evolution of bronchoscopy reflects a legacy of innovation driven by clinical need and technological advancement. Rigid and flexible techniques remain vital, while recent advances in robotics, artificial intelligence navigation, and image-guided interventions signal a new era. A deep appreciation of its historical development informs current practice and shapes the integration of emerging technologies into the future of interventional pulmonology
Comparative effectiveness and safety of PI-Rd triplets in relapsed/refractory multiple myeloma: INSIGHT-MM data analysis
No full textObjectives: To assess the effectiveness/safety of three proteasome inhibitors (PIs), plus lenalidomide-dexamethasone (Rd) triplet regimens, for the treatment of relapsed/refractory multiple myeloma (RRMM) in a real-world setting, using data from the observational INSIGHT-MM study (NCT02761187).
Methods: Adults with RRMM who received ixazomib, carfilzomib, or bortezomib plus Rd (IRd, KRd, or VRd, respectively) in the second or later line of therapy (LoT) were included. Patient characteristics, response to therapy (Kaplan-Meier analysis), and safety were reported descriptively. Multivariable Cox proportional hazards models were used to assess comparative effectiveness between regimens, whilst adjusting for cohort imbalances.
Results: Overall, 356 LoTs (IRd n = 181; KRd n = 96; VRd n = 79) from 348 patients were included. There was heterogeneity in patient characteristics between cohorts. Median real-world progression-free survival (rwPFS) for IRd, KRd, and VRd was 14.5, 13.2, and 9.1 months, respectively. After adjustment for baseline covariates, no significant differences in rwPFS were observed between regimens. All three regimens demonstrated a manageable safety profile.
Conclusions: IRd, KRd, and VRd demonstrated comparable effectiveness and safety for the treatment of RRMM in a real-world setting, highlighting the need for a holistic evaluation of individual patients\u27 needs and circumstances when selecting an appropriate PI
Impact of disease stage, treatment timing, and demographic disparities on survival in vulvar squamous cell carcinoma: Insights from a SEER-based analysis
No full textBackground: Vulvar squamous cell carcinoma (VSCC) is a rare gynecologic malignancy with understudied survival outcomes. This study leverages SEER data to refine prognostic understanding and inform clinical decision-making.
Objectives: To assess overall survival (OS) in VSCC based on disease stage, treatment sequencing, timing, and demographic factors.
Methods: This retrospective SEER study analyzed 15,055 VSCC patients (2000-2021). OS was evaluated using Kaplan-Meier analyses, stratified by disease stage, treatment modality, and timing. Socioeconomic factors, including race, income, and geographic location, were assessed for survival disparities.
Results: Patients with regional or distant metastasis had significantly worse OS compared to those with localized disease. In regional metastasis, surgery alone was associated with the best survival, with no additional benefit observed from radiation sequencing. In distant metastasis, surgery with radiation was associated with the best outcomes, and all treatment groups showed improved OS compared to no treatment. Early treatment (
Conclusions: Optimizing treatment sequencing, ensuring timely intervention, and addressing disparities are critical to improving VSCC outcomes. Limitations include the retrospective nature of SEER data and lack of information on comorbidities, HPV status, and chemotherapy use
