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2. Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of ageMirjam Cvelbar, Marko Hočevar, Srdjan Novaković, Vida Stegel, Andraž Perhavec, Mateja Krajc, 2017, izvirni znanstveni članek Povzetek: In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods. All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results. Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions. The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to all EOC patients younger than 50 years. Regarding clinical data, it is important to perform their re-interpretation in everyday clinical practice, because this may influence therapeutic possibilities to be offered.
Ključne besede: ovarian cancer, BRCA 1/2, genetic counseling
Objavljeno v DiRROS: 24.05.2024; Ogledov: 100; Prenosov: 45
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3. Leiomyosarcoma of the renal vein : analysis of outcome and prognostic factors in the world case series of 67 patientsMarko Novak, Andraž Perhavec, Katherine E. Maturen, Snežana Pavlović Djokić, Simona Jereb, Darja Eržen, 2017, izvirni znanstveni članek Povzetek: Background Leiomyosarcoma is a rare malignant mesenchymal tumour. Some cases of leiomyosarcoma of the renal vein (LRV) have been reported in the literature, but no analysis of data and search for prognostic factors have been done so far. The aim of this review was to describe the LRV, to analyse overall survival (OS), local recurrence free survival (LRFS) and distant metastases free survival (DMFS) in LRV world case series and to identify significant predictors of OS, LRFS and DMFS. Methods Cases from the literature based on PubMed search and a case from our institution were included. Results Sixty-seven patients with a mean age of 56.6 years were identified; 76.1% were women. Mean tumour size was 8.9 cm; in 68.7% located on the left side. Tumour thrombus extended into the inferior vena cava lumen in 13.4%. All patients but one underwent surgery (98.5%). After a median follow up of 24 months, the OS was 79.5%. LRFS was 83.5% after a median follow up of 21.5 months and DMFS was 76.1% after a median follow up of 22 months. Factors predictive of OS in univariate analysis were surgical margins, while factors predictive of LRFS were inferior vena cava luminal extension and grade. No factors predictive of DMFS were identified. In multivariate analysis none of the factors were predictive of OS, LRFS and DMFS. Conclusions Based on the literature review and presented case some conclusions can be made. LRV is usually located in the hilum of the kidney. It should be considered in differential diagnosis of renal and retroperitoneal masses, particularly in women over the age 40, on the left side and in the absence of haematuria. Core needle biopsy should be performed. Patients should be managed by sarcoma multidisciplinary team. LRV should be surgically removed, with negative margins.
Ključne besede: leiomysarcoma, renal vein, surgery, outcomes, prognostic factors
Objavljeno v DiRROS: 24.05.2024; Ogledov: 85; Prenosov: 73
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6. Bevacizumab plus chemotherapy in elderly patients with previously untreated metastatic colorectal cancer : single center experienceJanja Ocvirk, Maja Ebert Moltara, Tanja Mesti, Marko Boc, Martina Reberšek, Neva Volk, Jernej Benedik, Zvezdana Hlebanja, 2016, izvirni znanstveni članek Povzetek: Metastatic colorectal cancer (mCRC) is mainly a disease of elderly, however, geriatric population is underrepresented in clinical trials. Patient registries represent a tool to assess and follow treatment outcomes in this patient population. The aim of the study was with the help of the patients% register to determine the safety and efficacy of bevacizumab plus chemotherapy in elderly patients who had previously untreated metastatic colorectal cancer. Patients and methods. The registry of patients with mCRC was designed to prospectively evaluate the safety and efficacy of bevacizumab-containing chemotherapy as well as selection of patients in routine clinical practice. Patient baseline clinical characteristics, pre-specified bevacizumab-related adverse events, and efficacy data were collected, evaluated and compared according to the age categories. Results. Between January 2008 and December 2010, 210 patients with mCRC (median age 63, male 61.4%) started bevacizumab-containing therapy in the 1st line setting. Majority of the 210 patients received irinotecan-based chemotherapy (68%) as 1st line treatment and 105 patients (50%) received bevacizumab maintenance therapy. Elderly (% 70 years) patients presented 22.9% of all patients and they had worse performance status (PS 1/2, 62.4%) than patients in < 70 years group (PS 1/2, 35.8%). Difference in disease control rate was mainly due to inability to assess response in elderly group (64.6% in elderly and 77.8% in < 70 years group, p = 0.066). The median progression free survival was 10.2 (95% CI, 6.7%16.2) and 11.3 (95% CI, 10.2%12.6) months in elderly and < 70 years group, respectively (p = 0.58). The median overall survival was 18.5 (95% CI, 12.4%28.9) and 27.4 (95% CI, 22.7%31.9) months for elderly and < 70 years group, respectively (p = 0.03). Three-year survival rate was 26% and 37.6% in elderly vs. < 70 years group (p = 0.03). Overall rates of bevacizumab-related adverse events were similar in both groups: proteinuria 21/22 %, hypertension 25/19 %, haemorrhage 2/4 % and thromboembolic events 10/6 %, for elderly and < 70 years group, respectively. Conclusions. In routine clinical practice, the combination of bevacizumab and chemotherapy is effective and welltolerated regimen in elderly patients with metastatic colorectal cancer.
Ključne besede: metastatic colorectal cancer, bevacizumab, chemotherapy, elderly
Objavljeno v DiRROS: 30.04.2024; Ogledov: 155; Prenosov: 40
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7. Effectiveness of electrochemotherapy after IFN-[alpha] adjuvant therapy of melanoma patientsAndrejc Hribernik, Maja Čemažar, Gregor Serša, Maša Omerzel, Marko Snoj, 2016, izvirni znanstveni članek Povzetek: The combination of electrochemotherapy with immuno-modulatory treatments has already been explored and proven effective. However, the role of interferon alpha (IFN-alpha) adjuvant therapy of melanoma patients and implication on electrochemotherapy effectiveness has not been explored yet. Therefore, the aim of the study was to retrospectively evaluate the effectiveness and safety of electrochemotherapy after the previous adjuvant treatment with IFN-alpha in melanoma patients. Patients and methods. The study was a retrospective single-center observational analysis of the patients with advanced melanoma, treated with electrochemotherapy after previous IFN-alpha adjuvant therapy. Five patients, treated between January 2008 and December 2014, were included into the study, regardless of the time point of IFN-alpha adjuvant therapy. Results. Electrochemotherapy of recurrent melanoma after the IFN-alpha adjuvant therapy proved to be a safe and effective treatment. Patients with one or two metastases responded completely. Among patients with multiple metastases, there was a variable response rate. In one patient all 23 metastases responded completely, in second patient more than 85% of all together 80 metastases responded completely and in third patient all 5 metastases had partial response. Taking into account all metastases from all patients together there was an 85% complete response rate. Conclusions. The study showed that electrochemotherapy of recurrent melanoma after the IFN-alpha adjuvant therapy is a safe and effective treatment modality, which results in a high complete response rate, not only in single metastasis, but also in multiple metastases. The high complete response rate might be due to an IFN-alpha immune-editing effect, however, further studies with a larger number of patients are needed to support this presumption.
Ključne besede: electrochemotherapy, IFN-alpha, melanoma
Objavljeno v DiRROS: 30.04.2024; Ogledov: 130; Prenosov: 36
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9. Revealing subtle active tectonic deformation: integrating lidar, photogrammetry, field mapping, and geophysical surveys to assess the Late Quaternary activity of the Sava Fault (Southern Alps, Slovenia)Petra Jamšek Rupnik, Jure Atanackov, Barbara Horn, Branko Mušič, Marjana Zajc, Christoph Grützner, Kamil Ustaszewski, Sumiko Tsukamoto, Matevž Novak, Blaž Milanič, Anže Markelj, Kristina Ivančič, Ana Novak, Jernej Jež, Manja Žebre, Miloš Bavec, Marko Vrabec, 2024, izvirni znanstveni članek Povzetek: We applied an interdisciplinary approach to analyze the late Quaternary activity of the Sava Fault in the Slovenian Southern Alps. The Sava Fault is an active strike-slip fault, and part of the Periadriatic Fault System that accommodated the convergence of Adria and Europe. It is one of the longest faults in the Southern Alps. Using high-resolution digital elevation models from lidar and photogrammetric surveys, we were able to overcome the challenges of assessing fault activity in a region with intense surface processes, dense vegetation, and relatively low fault slip rates. By integrating remote sensing analysis, geomorphological mapping, structural geological investigations, and near-surface geophysics (electrical resistivity tomography and ground penetrating radar), we were able to find subtle geomorphological indicators, detect near-surface deformation, and show distributed surface deformation and a complex fault pattern. Using optically stimulated luminescence dating, we tentatively estimated a slip rate of 1.8 ± 0.4 mm/a for the last 27 ka, which exceeds previous estimates and suggests temporal variability in fault behavior. Our study highlights the importance of modern high-resolution remote sensing techniques and interdisciplinary approaches in detecting tectonic deformation in relatively low-strain rate environments with intense surface processes. We show that slip rates can vary significantly depending on the studied time window. This is a critical piece of information since slip rates are a key input parameter for seismic hazard studies.
Ključne besede: active fault, lidar, photogrammetry, tectonic geomorphology, structural geology, geophysics, electrical resistivity tomography, ground penetrating radar, slip rate, Sava Fault
Objavljeno v DiRROS: 30.04.2024; Ogledov: 132; Prenosov: 75
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10. Structure of native four-repeat satellite III sequence with non-canonical base interactionsErin Chen, Marko Trajkovski, Hyun Kyung Lee, Samantha Nyovanie, Kailey N. Martin, William L. Dean, Mamta Tahiliani, Janez Plavec, Liliya A. Yatsunyk, 2024, izvirni znanstveni članek Objavljeno v DiRROS: 30.04.2024; Ogledov: 109; Prenosov: 141
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