Věda a výzkum / Odborné publikace

Odborníci FN Brno napříč různými oblastmi precizní medicíny v posledních letech publikovali řadu odborných publikací, některé z nich jsou uvedeny níže.

Precizní onkologie

• Ercan AB, Aronson M, Fernandez NR, et al. Tabori U. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study. Lancet Oncol. 2024 Mar 26:S1470-2045(24)00026-3.
• Stourac J, Borko S, Khan RT, Pokorna P, Dobias A, Planas-Iglesias J, Mazurenko S, Pinto G, Szotkowska V, Sterba J, Slaby O, Damborsky J, Bednar D. PredictONCO: a web tool supporting decision-making in precision oncology by extending the bioinformatics predictions with advanced computing and machine learning. Brief Bioinform. 2023 Nov 22;25(1):bbad441.
• Vejmelkova K, Pokorna P, Noskova K, Faustmannova A, Drabova K, Pavelka Z, Bajciova V, Broz M, Tinka P, Jezova M, Palova H, Kren L, Valik D, Slaby O, Sterba J. Tazemetostat in the therapy of pediatric INI1-negative malignant rhabdoid tumors. Sci Rep. 2023 Dec 7;13(1):21623. doi: 10.1038/s41598-023-48774-2. PMID: 38062114; PMCID: PMC10703767.
• Liu I, Jiang L, Samuelsson ER, et al. Filbin MG. The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location. Nat Genet. 2022 Dec;54(12):1881-1894. doi: 10.1038/s41588-022-01236-3. Epub 2022 Dec 5. PMID: 36471067; PMCID: PMC9729116.
• Pokorna P, Lakka Klement G, Vasikova A, Kanderova V, Jezova M, Noskova K, Mudry P, Kyr M, Merta T, Bajciova V, Krenova Z, Palova H, Valik D, Zdrazilova Dubska L, Slaby O, Sterba J. Minimal Residual Disease-Guided Intermittent Dosing in Patients With Cancer: Successful Treatment of Chemoresistant Anaplastic Large Cell Lymphoma Using Intermittent Lorlatinib Dosing. JCO Precis Oncol. 2022 Jun;6:e2100525. doi: 10.1200/PO.21.00525. PMID: 35700412; PMCID: PMC9384955.
• Wiedermannova H, Mudry P, Pavlicek J, Tomaskova H, Hladikova A, Palova H, Vesela P, Slaby O, Sterba J. Risk factors for tumors or leukemia development in the first two years of life. Biomed Pap. 2023 Sep;167(3):246-253. doi: 10.5507/bp.2022.004. Epub 2022 Feb 11. PMID: 35147139.
• Papez J, Starha J, Zerhau P, Pavlovska D, Jezova M, Jurencak T, Slaba K, Sterba M, Kerekes A, Merta T, Haluskova T, Palova H, Slaby O, Sterba J, Jabandziev P. Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report. Genes (Basel). 2021 Feb 3;12(2):220. doi: 10.3390/genes12020220. PMID: 33546375; PMCID: PMC7913579.
• Nobre L, Zapotocky M, Ramaswamy V, et al. Tabori U. Outcomes of BRAF V600E Pediatric Gliomas Treated With Targeted BRAF Inhibition. JCO Precis Oncol. 2020 May 20;4:PO.19.00298.
• Nobre L, Zapotocky M, et al. Ramaswamy V. Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma. Cell Rep Med. 2020 Jun 23;1(3):100038.
• Polaskova K, Merta T, Martincekova A, Zapletalova D, Kyr M, Mazanek P, Krenova Z, Mudry P, Jezova M, Tuma J, Skotakova J, Cervinkova I, Valik D, Zdrazilova-Dubska L, Noskova H, Pal K, Slaby O, Fabian P, Kozakova S, Neradil J, Veselska R, Kanderova V, Hrusak O, Freiberger T, Klement GL, Sterba J. Comprehensive Molecular Profiling for Relapsed/Refractory Pediatric Burkitt Lymphomas-Retrospective Analysis of Three Real-Life Clinical Cases-Addressing Issues on Randomization and Customization at the Bedside. Front Oncol. 2020 Feb 7;9:1531. doi: 10.3389/fonc.2019.01531. PMID: 32117783; PMCID: PMC7027364.
• Gojo J, Pavelka Z, Zapletalova D, Schmook MT, Mayr L, Madlener S, Kyr M, Vejmelkova K, Smrcka M, Czech T, Dorfer C, Skotakova J, Azizi AA, Chocholous M, Reisinger D, Lastovicka D, Valik D, Haberler C, Peyrl A, Noskova H, Pál K, Jezova M, Veselska R, Kozakova S, Slaby O, Slavc I, Sterba J. Personalized Treatment of H3K27M-Mutant Pediatric Diffuse Gliomas Provides Improved Therapeutic Opportunities. Front Oncol. 2020 Jan 10;9:1436. doi: 10.3389/fonc.2019.01436. PMID: 31998633; PMCID: PMC6965319.
• Noskova H, Kyr M, Pal K, Merta T, Mudry P, Polaskova K, Ivkovic TC, Adamcova S, Hornakova T, Jezova M, Kren L, Sterba J, Slaby O. Assessment of Tumor Mutational Burden in Pediatric Tumors by Real-Life Whole-Exome Sequencing and In Silico Simulation of Targeted Gene Panels: How the Choice of Method Could Affect the Clinical Decision? Cancers (Basel). 2020 Jan 17;12(1):230.
• Hlavackova E, Pilatova K, Cerna D, Selingerova I, Mudry P, Mazanek P, Fedorova L, Merhautova J, Jureckova L, Semerad L, Pacasova R, Flajsarova L, Souckova L, Demlova R, Sterba J, Valik D, Zdrazilova-Dubska L. Dendritic Cell-Based Immunotherapy in Advanced Sarcoma and Neuroblastoma Pediatric Patients: Anti-cancer Treatment Preceding Monocyte Harvest Impairs the Immunostimulatory and Antigen-Presenting Behavior of DCs and Manufacturing Process Outcome. Front Oncol. 2019 Oct 25;9:1034.
• Neradil J, Kyr M, Polaskova K, Kren L, Macigova P, Skoda J, Sterba J, Veselska R. Phospho-Protein Arrays as Effective Tools for Screening Possible Targets for Kinase Inhibitors and Their Use in Precision Pediatric Oncology. Front Oncol. 2019 Sep 20;9:930.
• Kyr M, Polaskova K, Kuttnerova Z, Merta T, Neradil J, Berkovcova J, Horky O, Jezova M, Veselska R, Klement GL, Valik D, Sterba J. Individualization of Treatment Improves the Survival of Children With High-Risk Solid Tumors: Comparative Patient Series Analysis in a Real-Life Scenario. Front Oncol. 2019 Jul 17;9:644. doi: 10.3389/fonc.2019.00644. PMID: 31380281; PMCID: PMC6650566.
• Sramek M, Neradil J, Macigova P, Mudry P, Polaskova K, Slaby O, Noskova H, Sterba J, Veselska R. Effects of Sunitinib and Other Kinase Inhibitors on Cells Harboring a PDGFRB Mutation Associated with Infantile Myofibromatosis. Int J Mol Sci. 2018 Sep 1;19(9):2599.
• Bednaříková M, Hausnerová J, Minář L, Taslerová R, Vinklerová P, Ehrlichová L, Trizuljak J, Blaháková I, Princ D, Matulová K, Ovesná P, Slabý O, Weinberger V. Molecular testing of endometrial carcinoma in real-world clinical practice. Klin Onkol. 2023 Spring;36(3):215-223.
• Bratova M, Brat K, Pavlovsky Z, Sana J, Slaby O. Driver and actionable mutations in younger patients with lung cancer - are we searching properly? Biomed Pap. 2023 Jun;167(2):152-156. doi: 10.5507/bp.2023.012. Epub 2023 Mar 31. PMID: 37009714.
• Hendrych M, Solar P, Hermanova M, Slaby O, Valekova H, Vecera M, Kopkova A, Mackerle Z, Kazda T, Pospisil P, Lakomy R, Chrastina J, Sana J, Jancalek R. Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation. Diagnostics (Basel). 2023 Jan 4;13(2):181.
• Eid M, Jelinkova M, Sana J, Slaby O. Efficacy of encorafenib and cetuximab therapy in a young patient with a rare concomitant KRAS and BRAF mutation in primary rectal cancer and wild-type KRAS status in metastases: A case report and literature review. Current Problems in Cancer: Case Reports. 2022;8: 100207.

Vzácná onemocnění

• Sterba M, Pokorna P, Faberova R, Pinkova B, Skotakova J, Seehofnerova A, Blatny J, Janigova L, Koskova O, Palova H, Mahdal M, Pazourek L, Jabandziev P, Slaby O, Mudry P, Sterba J. Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity. Sci Rep. 2023 Jun 28;13(1):10499.
• Slaba K, Noskova H, Vesela P, Tuckova J, Jicinska H, Honzik T, Hansikova H, Kleiblova P, Stourac P, Jabandziev P, Slaby O, Prochazkova D. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. Front Genet. 2020 Oct 7;11:561054.
• Slaba K, Jezova M, Pokorna P, Palova H, Tuckova J, Papez J, Prochazkova D, Jabandziev P, Slaby O. Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? Mol Genet Genomic Med. 2023 Jan 25:e2139.
• Slabá K, Pálová H, Veselá P, Aulická Š, Konečná P, Štěrba M, Jabandžiev P, Slabý O, Procházková D. Neurovývojová porucha s mentální retardací spojená s genem PPP2R5D – první případ v České republice. Cesk Slov Neurol N 2021; 84/ 117(2): 205– 207.
• Slaba K, Palova H, Pokorna P, Slaby O, Konecna P, Kolbova L, Jabandziev P, Prochazkova D. Syndrom intelektuálního postižení související s DYRK1A. Ces-slov Pediat 2022; 77(4): 215–218.      
• Papez J, Starha J, Slaba K, Hubacek JA, Pecl J, Aulicka S, Urik M, Ceylaner S, Vesela P, Slaby O, Jabandziev P. Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report. Biomed Papers. 2021 Nov;165(4):454-457.