Theageneio General Hospital

Abstract Background Identifying pathogenic/likely pathogenic variants in high-risk cancer genes is key to cancer risk management.Prophylactic surgeries like RRM and RRSO are guideline-recommended options. This study aims to provide real-world evidence on their clinical implementation. Methods Between 2020 and 2025, 203 women referred for genetic testing at Genekor Medical S.A., were detected with P/LP variants in cancer susceptibility genes, for which risk-reducing surgical options are either recommended or considered for discussion. Referring clinicians were invited to complete a questionnaire to assess whether prophylactic surgical options had been discussed, if the patients had agreed to undergo such procedures, and whether the surgeries have already been performed or postponed. Results Among the individuals referred for genetic testing, 168(83%) were referred following a cancer diagnosis, while 35(17%) were unaffected individuals referred due to a family history. 153 individuals (76%) harbored BRCA1/2, 31(15%) harbored PALB2, PTEN, TP53 and 19 (9%) harbored BRIP1,RAD51C, RAD51D P/LP variants. RRSO was discussed with 78/153 (51%) of BRCA1/2 carriers and agreed in 60/78 (77%) cases. Addition of hysterectomy to RRSO was discussed in 16/78 (21%) of cases and agreed in 10/16 (63%). RRM was discussed with 113/203 (56%) of patients and agreed in 73/113(65%). In PALB2, PTEN, TP53 carriers, RRM was discussed in 21/31 (68%) cases, and accepted in 9/21 (43%), while in 5 cases both RRM/RRSO were discussed with 3 women agreeing. Finally, for 19 BRIP1,RAD51C, RAD51D carriers, in 9 cases the physician discussed RRSO as an option, with the examinees agreeing in 7 of them and in 5 cases RRM was discussed with agreement to proceed in 2 of them. In all cases, 22 individuals although agreed to proceed with RRM and/or RRSO, decided to postpone the procedure. Conclusions This study highlights the high awareness and acceptance of surgical management demonstrating the adherence to the recommendations. Age under 35 years and receiving therapy at the time of genetic testing were significant factors in lowering risk reduction RRSO and hysterectomy performance rates. Stage IV cancer was the main reason for not discussing surgical intervention. Citation Format: K. Papazisis, M. Paraskeva, S. Giassas, M. Skondra, R. Iosifidou, C. Tolis, G. Kesisis, E. Zairi, V. Venizelos, C. Markopoulos, I. Natsiopoulos, E. Bleka, I. Xanthakis, A. Ananiadis, D. Matheos, D. Stefanou, A. Adamidis, A. Meintani, G. Kapetsis, D. Bouzarelou, E. Papadopoulou, G. Nasioulas. High-risk cancer susceptibility genes mutation carriers’ compliance with surgical risk reduction for breast and ovarian cancer [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2025; 2025 Dec 9-12; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2026;32(4 Suppl):Abstract nr PS3-05-05.

Benign metastasizing leiomyoma (BML) is an uncommon entity in which histologically benign smooth muscle tumors appear at distant sites, most frequently the lungs, in women with a history of uterine leiomyoma treated surgically. Despite its benign pathology, BML often presents radiologically in a pattern that mimics metastatic malignancy, resulting in substantial diagnostic uncertainty. Awareness of this condition is essential for avoiding unnecessary or overly aggressive interventions. We describe the case of a 58-year-old woman and active smoker with a significant 40-pack-year history who was referred following the incidental discovery of multiple bilateral pulmonary nodules and two enlarging masses during routine coronary CT angiography. Remarkably, retrospective review revealed a 23-year history of slowly progressive pulmonary nodules. The patient was asymptomatic except for a chronic intermittent productive cough. Laboratory testing, including immunologic profiling and tumor markers, was unremarkable, apart from elevated CA-125 levels. Bronchoscopy and transbronchial needle aspiration demonstrated nonspecific fibrosis without evidence of malignancy or infection. Fluorodeoxyglucose-positron emission tomography (FDG-PET) imaging showed multiple photopenic nodules and two non-FDG-avid masses, further complicating the differential diagnosis, which initially included metastatic cancer, granulomatous disease, and primary pulmonary neoplasms. Given the increasing size of the dominant left upper lobe lesion and persistent diagnostic ambiguity, the patient underwent video-assisted thoracoscopic surgery with left upper lobectomy. Histopathological examination revealed intersecting bundles of bland smooth muscle cells without atypia or necrosis, while immunohistochemistry demonstrated strong positivity for SMA, desmin, caldesmon, and estrogen receptors, consistent with pulmonary benign metastasizing leiomyoma. These findings were correlated with the patient's remote history of hysterectomy for uterine leiomyoma. This case highlights the diagnostic challenges of BML, particularly when radiologic findings resemble metastatic malignancy over many years. Recognition of its characteristic clinical, imaging, and histologic features is essential to avoid misdiagnosis and overtreatment. Management should be individualized and may include surgical resection, hormonal therapy, or careful surveillance. Long-term follow-up is recommended due to the condition's variable clinical course and potential for progression.

The data that support the findings of this study are available from the corresponding author upon reasonable request.

IntroductionLung cancer screening (LCS) is an evolving field with variations in its implementation worldwide. National LCS programmes are limited and preliminary data from national implementation are scarce.AimAn up-to-date overview of the available literature about 12 LCS-related topics that were identified as priorities by a multidisciplinary task force (TF) panel and patient representatives as well as synthesis of published evidence to inform clinical practice and health decision-making about LCS implementation. In specific areas where the scientific evidence is limited or mixed, the limitations are discussed and best practices based on available evidence are concluded.Materials and methodsA multidisciplinary TF expert panel collaborated with patient representatives, identified 12 areas of interest and incorporated patient priorities. A systematic literature search was conducted, followed by screening, review and synthesis of available evidence.ResultsThere is a lack of national LCS programmes in most countries worldwide. LCS benefits and potential risks are well established. Low-dose computed tomography (LDCT) combined with smoking cessation should be offered as part of a LCS strategy to ensure optimal clinical outcomes. Age and smoking status cut-offs as well as other inclusion criteria vary and should be based on national epidemiological data. Available LCS risk predictor models and biomarkers require further clinical validation prior to implementation across the entire spectrum of LCS candidates. LCS frequency remains controversial with biennial LDCT being supported by current evidence. Technical standards, quality assurance and LCS management protocols are essential in LCS implementation.ConclusionsLCS benefits override potential risks. There is slim evidence for specific cut-off values for inclusion criteria, the optimal duration of LCS programmes and the application of LCS biomarkers in clinical practice. Smoking cessation should be integrated within LCS programmes. Ongoing scientific activity in the area is expected to provide answers in the near future.

BackgroundA significant number of individuals undergoing coronary computed tomography angiography (CCTA) for suspected (CAD) have nonobstructive or no CAD. There is a need for clinically proven models that can predict the pretest probability of stable CAD and help to identify low-risk individuals. Optimizing patient stratification is of paramount importance to improve diagnostic yield and cost-effectiveness.ObjectiveWe aimed to determine whether each patient needs to undergo CCTA because of suspected CAD. The main objective of this study is to evaluate the clinical performance of an artificial intelligence (AI)-based tool in predicting significant coronary artery stenosis (>50%), as well as its utility by medical professionals.MethodsData for this study have been acquired from 750 participants as part of routine clinical practice in AHEPA (American Hellenic Educational Progressive Association) General Hospital of Thessaloniki. The dataset has several features, including demographics (eg, age, gender), medical history (eg, diabetes mellitus, arterial hypertension), and clinical variables (eg, creatinine, epicardial fat volume). At least 2 expert cardiologists and 2 expert radiologists are involved in this study, who provide the ground truth. A trained AI-based model embedded in an easy-to-use and user-friendly web application is implemented in practice. Several AI algorithms are being examined, and the model found to perform best so far is the Optimized Voting model, which is a combination of the best performing iterations of random forest and extreme gradient boosting. The performance metrics that are being used are accuracy, precision, recall, F1-score, area under the receiver operating characteristic curve, and area under the precision-recall curve.ResultsRecruitment for this study began in July 2023. Data collection, development, training, and deployment of the AI web tool were completed by May 2024. In total, data from 500 individuals were collected for training and internal validation, while the best performing model was validated externally in another 250 individuals. For training and internal validation, the dataset was split into 70% for training and 20% for validation and 10% for testing. Currently, the best performing model achieves an accuracy of approximately 82% in successfully predicting stenosis greater than 50%. Additionally, an explainable AI algorithm is used to provide explanations in relation to the decisions made aiming to increase the trust of the clinicians in the tool.ConclusionsThe proposed study represents a novel approach of a web-based AI-driven solution with explainability features for optimizing patient stratification with the goal of improving diagnostic yield and cost-effectiveness of CCTA utilization within the context of cardiology clinical practice.International Registered Report Identifier (IRRID)DERR1-10.2196/67697

Radiotherapy (RT) is an integral component of various multidisciplinary treatment approaches for pelvic malignancies, used both in the radical and adjuvant setting. Despite the improvement of radiotherapy modalities, pelvic radiotherapy often induces permanent erectile dysfunction (ED). However, post-treatment ED receives little medical attention, since patient follow-up focuses mainly on cancer recurrence surveillance. The present review aims to summarize the current treatment modalities against radiation-induced erectile dysfunction (RIED) for patients who have received pelvic radiotherapy. A literature review on emerging treatment strategies for RIED was conducted to summarize existing evidence. Research in medical literature was conducted through the PubMed Central databases, from 1996 up until June 2024, in the English language. All relevant clinical trials on RIED management were included. The efficacy of PDE5i was investigated by 12 research studies. The majority of studies revealed that PDE5i have a potentially positive effect on maintaining EF, mainly in the shortterm after pelvic RT. Despite penile prostheses' high efficacy, their role remains limited due to various factors. Regarding yoga, a randomised clinical trial demonstrated clinical effectiveness only during the first 4 weeks of the twice/week regimen of sessions. Treatment strategies for RIED range from oral medication to more invasive treatment modalities that present high efficacy. Penile prosthesis remains the most invasive, yet the most effective and definitive treatment. Stem cell therapy, platelet-rich plasma intracavernosal injections, and penile vibratory stimulation feature an efficient profile, but their beneficial role has not yet been established. Further randomized controlled trials are required to assess the effectiveness of these interventions. Establishing strategies for the needs of survivors with RIED should also be prioritized in the therapeutic management, because patients' quality of life can be substantially improved.

Waldenstrom macroglobulinemia (WM) is an indolent lymphoma with a long course; advanced age and immunosuppressive treatments may predispose for second primary malignancies (SPM). Consecutive symptomatic, newly diagnosed patients with WM who were diagnosed, treated and followed-up until May 28, 2024 were included in this study. 677 symptomatic patients with WM were included in the analysis; their median age was 69 years (range 24-93) and 209 were females (30.9%). Over a median follow-up of 5.32 years (range 0.01-25.61), 58 patients (8.6%) were diagnosed with a SPM. The median time from WM diagnosis to SPM diagnosis was 4.93 years (range 0.07-20.71). The incidence rate (IR) of a SPM per person-year was 0.009, translating to roughly 1 case per 100 person-years. The cumulative incidence (CI) of SPMs, accounting for death due to WM or other causes as a competing event, at 5 and 10 years was 4.0% and 7.2%. Furthermore, 23 patients (3.4%) developed transformation to high grade lymphoma. The median time from WM diagnosis to transformation was 5.36 years (range 0.01-25.6). The IR of transformation per person-year was 0.003, translating to 3 cases per 1000 person-years. The CI of transformation to high-grade lymphoma, accounting for death due to WM or other causes as a competing event, at 5 and 10 years, was 2.1% and 3.4%. Data from our prospectively maintained multicenter database revealed that 8.6% and 3.4% of symptomatic patients with WM developed a SPM and disease transformation, respectively, over a median follow-up of 5.3 years.

Professor Eirini Katodritou has financial relationships or affiliations through receiving honoraria from Amgen, GSK, and Janssen, and research funding from Abbvie, GSK, Janssen, Karyopharm, and Pfizer. Professor Shaji Kumar has extensive financial relationships or affiliations, including consulting for numerous companies such as AbbVie, Amgen, ArcellX, Beigene, BMS, Carsgen, Epizyme, Glycostem, GSK, Janssen, K36, Menarini, Moderna, Pfizer, Regeneron, Roche-Genentech, Sanofi, Takeda, Telogenomics, Trillium, and Window Therapeutics, with personal payments also from Antengene, Calyx, CVS Caremark, and BD Biosciences. Additionally, he has received clinical trial support from AbbVie, Amgen, Astra Zeneca, BMS, Carsgen, GSK, Gracell Bio, Janssen, Oricell, Roche-Genentech, Sanofi, Takeda, and Telogenomics. In contrast, Professor Evangelos Terpos has had no financial interests, relationships, or affiliations in the past 24 months. Meanwhile, Professor Suzanne Lentzsch has financial relationships or affiliations through serving on advisory boards for Astra Zeneca, BMS, GSK, Janssen, Karyopharm, Regeneron, Sanofi, and Pfizer, as well as being a speaker for GSK and Regeneron, and a DMSB member for BMS and Janssen. The authors have nothing to report.

Giant lumbar disc herniations can produce severe sciatica and neurological deficits, in both acute and chronic stages, potentially resulting in symptoms of cauda equina syndrome, depending on their specific location.