1. High burden of clonal mast cell disorders and hereditary ▫$α-tryptasemia$▫ in patients who need Hymenoptera venom immunotherapyPeter Korošec, Gunter Sturm, Jonathan J. Lyons, Tinkara Pirc Marolt, Manca Svetina, Mitja Košnik, Mihaela Zidarn, Mark Kačar, Nina Frelih, Nika Lalek, Ajda Demšar Luzar, Samo Zver, Matevž Škerget, Ewa Czarnobilska, Wojciech Dyga, Sanja Popović-Grle, Miroslav Samaržija, Lisa Arzt-Gradwohl, Urban Čerpes, Grzegorz Porebski, Branko Pevec, Eva Schadelbauer, Peter Kopač, Julij Šelb, Matija Rijavec, 2024, izvirni znanstveni članek Povzetek: Background
In patients who require venom immunotherapy (VIT), there is a need to identify underlying mast cell (MC) disorders since these may affect the risk and severity of future sting reactions and the long-term effectiveness of VIT.
Methods
1319 individuals with Hymenoptera venom allergy (HVA) who needed VIT from referral centers in Slovenia, Austria, Croatia, and Poland underwent examination for KIT p.D816V in peripheral blood leukocytes (PBL) using a highly sensitive PCR test and tryptase genotyping by digital droplet PCR. We also included 183 control individuals with large local reactions (LLRs) to Hymenoptera stings and with asymptomatic sensitization to Hymenoptera venoms.
Results
285 of 1319 individuals recommended for VIT (21.6%) were positive for KIT p.D816V in PBL, preferably those who present with severe reaction (33.9% [n = 207 of 610] with Ring-Messmer grade 3–4 vs. 11% [n = 78 of 709] with Grade 1–2; p < .0001), whereas only 1.3% (n = 2 of 152) of controls with LLR and none with asymptomatic sensitization (n = 31) had KIT p.D816V. KIT p.D816V allelic burden was higher in those with severe reaction (median 0.018% [n = 207] in Grade 3–4 vs. 0.001% [n = 78] in Grade 1–2; p < .0001), and the majority had normal baseline serum tryptase levels (69% [n = 196 of 285]). All KIT p.D816V-positive individuals (n = 41) who underwent bone marrow (BM) biopsy were found to have underlying clonal diseases, principally BM mastocytosis. HαT was also associated with severe HVA and symptoms (p < .01), and remarkably, 31.0% (n = 31 of 100) were found to have concomitant KIT p.D816V. Concomitant HαT and KIT p.D816V showed an additive effect, and having both was associated with the highest risk for severe HVA, even higher than having either HαT or KIT p.D816V alone (OR = 3.8; p < .01).
Conclusions
By employing prospective universal tryptase genotyping and examination for KIT p.D816V in PBL in large HVA populations, we have demonstrated a high burden of clonal MC disorders and HαT in patients who require VIT.
Ključne besede: anaphylaxis, hereditary α-tryptasemia, hypersensitivity, immunotherapy, mast cell, mastocytosis, venom
Objavljeno v DiRROS: 17.06.2024; Ogledov: 113; Prenosov: 67
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2. A novel mutation in the FOXC2 gene : a heterozygous insertion of adenosine (c.867insA) in a family with lymphoedema of lower limbs without distichiasisTanja Planinšek Ručigaj, Matija Rijavec, Jovan Miljković, Julij Šelb, Peter Korošec, 2017, izvirni znanstveni članek Ključne besede: primary lymphedema, FOXC2 mutation, distichiasis, lower limbs lymphedema
Objavljeno v DiRROS: 31.05.2024; Ogledov: 119; Prenosov: 82
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3. The impact of anaemia on treatment outcome in patients with squamous cell carcinoma of anal canal and anal marginIrena Oblak, Monika Češnjevar, Mitja Anžič, Jasna But-Hadžić, Ajra Šečerov Ermenc, Franc Anderluh, Vaneja Velenik, Ana Jeromen, Peter Korošec, 2016, izvirni znanstveni članek Povzetek: Radiochemotherapy is the main treatment for patients with squamous cell carcinoma of the anal canal. Anaemia is reported to have adverse effect on survival in cancer patients. The aim of the study was to evaluate the influence of anaemia on radiochemotherapy treatment outcome in patients with squamous cell carcinoma of the anal canal. Patients and methods. One hundred consecutive patients with histologically confirmed squamous cell carcinoma of the anal canal were treated radically with 3-dimensional conformal or intensity-modulated radiation therapy followed by brachytherapy or external beam radiotherapy boost and with concurrent mitomycin C and 5-fluorouracil. The influence on survival of pre-treatment, mean on-treatment and end-of-treatment haemoglobin (Hb) concentrations was studied. Results. The 5-year locoregional control, disease free survival, disease specific survival and overall survival rates for all patients were 72%, 71%, 77% and 62%, respectively. In univariate analysis, patients with pre-treatment and end-oftreatment Hb > 120 g/L survived statistically significantly better compared to patients with Hb % 120 g/L. Patients with mean on-treatment Hb > 120 g/L only had statistically significant better locoregional control and overall survival than patients with Hb % 120 g/L. In multivariate analysis, independent prognostic factors were pre-treatment Hb (> 120 g/L vs. % 120 g/L) for overall survival (hazard ratio [HR] = 0.419, 95% confidence interval [CI] = 0.190%0.927, p = 0.032) and stage (I & II vs. III) for disease specific (HR = 3.523, 95% CI = 1.375%9.026, p = 0.009) and overall survival (HR = 2.230, 95% CI = 1.167%4.264, p = 0.015). Conclusions. The pre-treatment, mean on-treatment and end-of-treatment Hb concentration > 120 g/L carried better prognosis for patients for with squamous cell carcinoma of the anal canal treated with radiochemotherapy. The pre-treatment Hb > 120 g/L was an independent prognostic factor for overall survival of patients with anal canal cancer.
Ključne besede: anaemia, anal canal squamous cell carcinoma, radiochemotherapy
Objavljeno v DiRROS: 30.04.2024; Ogledov: 211; Prenosov: 124
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4. The prognostic value of whole blood SOX2, NANOG and OCT4 mRNA expression in advanced small-cell lung cancerEva Sodja, Matija Rijavec, Ana Koren, Aleksander Sadikov, Peter Korošec, Tanja Čufer, 2016, izvirni znanstveni članek Povzetek: The data on expression and clinical impact of cancer stem cell markers SOX2, NANOG and OCT4 in lung cancer is still lacking. The aim of our study was to compare SOX2, NANOG and OCT4 mRNA expression levels in whole blood between advanced small-cell lung cancer (SCLC) patients and healthy controls, and to correlate mRNA expression with progression-free survival (PFS) after first-line chemotherapy and overall survival (OS) in advanced SCLC patients. Patients and methods. 50 advanced SCLC patients treated with standard chemotherapy and followed at University Clinic Golnik, Slovenia, between 2009 and 2013 were prospectively included. SOX2, NANOG and OCT4 mRNA expression levels were determined using TaqMan qPCR in whole blood collected prior to chemotherapy. Whole blood of 34 matched healthy individuals with no cancerous disease was also tested. Results. SOX2 mRNA expression was significantly higher in whole blood of SCLC patients compared to healthy controls (p = 0.006). Significant correlation between SOX2 mRNA expression levels and the number of distant metastatic sites was established (p = 0.027). In survival analysis, patients with high SOX2 expression had shorter OS (p = 0.017) and PFS (p = 0.046). In multivariate Cox analysis, an independent value of high SOX2 expression for shorter OS (p = 0.002), but not PFS was confirmed. No significant differences were observed for NANOG or OCT4 expression levels when comparing SCLC patients and healthy controls neither when analysing survival outcomes in SCLC patients. Conclusions. SOX2 mRNA expression in whole blood might be a promising non-invasive marker for molecular screening of SCLC and important prognostic marker in advanced chemotherapy-treated SCLC patients, altogether indicating important role of cancer stem-like cell (CSC) regulators in cancer spread. Further evaluation of SOX2 as a possible screening/prognostic marker and a therapeutic target of SCLC is warranted.
Ključne besede: small-cell lung cancer, cancer stem cell markers, prognosis
Objavljeno v DiRROS: 30.04.2024; Ogledov: 205; Prenosov: 83
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5. PS-AAS : portfolio selection for automated algorithm selection in black-box optimizationAna Kostovska, Gjorgjina Cenikj, Diederick Vermetten, Anja Janković, Ana Nikolikj, Urban Škvorc, Peter Korošec, Carola Doerr, Tome Eftimov, 2023, objavljeni znanstveni prispevek na konferenci Ključne besede: automated algorithm selection, portfolio selection, black box optimization
Objavljeno v DiRROS: 11.12.2023; Ogledov: 451; Prenosov: 182
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6. Sensitivity analysis of RF+clust for leave-one-problem-out performance predictionAna Nikolikj, Michal Pluhacek, Carola Doerr, Peter Korošec, Tome Eftimov, 2023, objavljeni znanstveni prispevek na konferenci Ključne besede: automated performance prediction, autoML, single-objective black-box optimization, zero-shot learning
Objavljeno v DiRROS: 13.11.2023; Ogledov: 467; Prenosov: 273
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7. Algorithm instance footprint : separating easily solvable and challenging problem instancesAna Nikolikj, Sašo Džeroski, Mario Andrés Muñoz, Carola Doerr, Peter Korošec, Tome Eftimov, 2023, objavljeni znanstveni prispevek na konferenci Ključne besede: black-box optimization, algorithms, problem instances, machine learning
Objavljeno v DiRROS: 15.09.2023; Ogledov: 409; Prenosov: 240
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8. Assessing the generalizability of a performance predictive modelAna Nikolikj, Gjorgjina Cenikj, Gordana Ispirova, Diederick Vermetten, Ryan Dieter Lang, Andries Petrus Engelbrecht, Carola Doerr, Peter Korošec, Tome Eftimov, 2023, objavljeni znanstveni prispevek na konferenci Ključne besede: algorithms, predictive models, machine learning
Objavljeno v DiRROS: 15.09.2023; Ogledov: 419; Prenosov: 283
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9. DynamoRep : trajectory-based population dynamics for classification of black-box optimization problemsGjorgjina Cenikj, Gašper Petelin, Carola Doerr, Peter Korošec, Tome Eftimov, 2023, objavljeni znanstveni prispevek na konferenci Ključne besede: black-box single-objective optimization, optimization problem classification, problem representation, meta-learning
Objavljeno v DiRROS: 30.08.2023; Ogledov: 440; Prenosov: 293
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10. Vloga radioterapije pri oligometastatskih gastrointestinalnih rakihPeter Korošec, 2022, objavljeni znanstveni prispevek na konferenci Povzetek: Zdravljenje s stereotaktično radioterapijo (SBRT) se je v zadnjih letih tudi pri oligometastatskem gastrointestinalnem raku izkazalo za eno izmed pomembnejših možnosti lokalnega ablativnega zdravljenja, ki izboljšuje tako lokalno kontrolo, preživetje brez bolezni, kot tudi celokupno preživetje. Ob tem pa se je stereotaktično obsevanje izkazalo za varno metodo. Glede na lokacijo zasevkov so najpogosteje obsevani zasevki v jetrih in pljučih. Zaradi višje radiorezistentence zasevkov je potrebna večja izsevana doza (BED ≥ 100 Gy). Za čim manj stranskih učinkov pa je potrebna uporaba sistemov, ki zmanjšujejo gibanje tarče in povečujejo natančnost obsevanja. Večina dokazov do sedaj sicer temelji na retrospektivnih analizah in manjših prospektivnih študijah faze I in II. Rezultati prospektivnih študij faze III pa nam bodo v prihodnosti potrdili kdaj in kateri pacienti bodo imeli od zdravljenja z obsevanjem največjo korist.
Ključne besede: gastrointestinalni rak, radioterapija, rak prebavil
Objavljeno v DiRROS: 13.01.2023; Ogledov: 561; Prenosov: 139
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