BACKGROUND: Ice hockey is a dynamic game. We can observe collisions between the players that bring a risk of injury. There are many hockey clubs in the Czech Republic. These clubs raise great hockey players and many competing players in various levels of national leagues. The aim of this study was to map injuries in Czech hockey players and outline the situation of injury prevention and body care in ice hockey players. METHODS: We used a questionnaire survey method to obtain data. We received answers from 100 male active Czech ice hockey players, playing in the top three highest men's competitions (Extraleague - 2nd league). Individual injuries were analyzed according to specific body parts, injury type, playing position, level of competition using basic statistical characteristics and relative frequency analyses, including the recovery time, injury reason and the injury statistics per 1000 sporting performances in ice hockey. RESULTS: We found that 81% of participants suffered injuries with the overall incidence of injuries was 17.1 per 1000 sports performances and mainly happened during the match compared to training. The most common injuries were in the head and neck area (25%), often caused by a collision with another player, a stick or puck hit, or a collision with a board. Other frequently injured parts were the knees (21%), where internal ligament injuries predominate, and the shoulders (20%), where we recorded mainly ligament injuries. CONCLUSIONS: There is a high risk of various injury types of ice hockey players, that are developed accidentally in all body parts mostly in the match (mostly upper part of the body and knee) or by overloading (hip/groin area). We recommend strategies to avoid or minimize the injury risk of players. The hockey clubs, coaches, and players should extensively and regularly cooperate with physiotherapists, starting from the younger age of hockey groups, to prevent injuries and use regular strengthening of crucial muscle parts, regeneration, and compensatory exercises. We endorse adequately evaluating dangerous foul actions for referees and disciplinary officials also in minor competitions.

• MeSH
• dospělí MeSH
• hokej * zranění   MeSH
• incidence MeSH
• lidé MeSH
• mladý dospělý MeSH
• průzkumy a dotazníky MeSH
• sportovní úrazy * epidemiologie   prevence a kontrola   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

The most important challenges in acute promyelocytic leukemia (APL) is preventing early death and reducing long-term events, such as second neoplasms (s-NPLs). We performed a retrospective analysis of 2670 unselected APL patients, treated with PETHEMA "chemotherapy based" and "chemotherapy free" protocols. Only de novo APL patients who achieved complete remission (CR) and completed the three consolidation cycles were enrolled into the analysis. Out of 2670 APL patients, there were 118 (4.4%) who developed s-NPLs with the median latency period (between first CR and diagnosis of s-NPL) of 48.0 months (range 2.8-231.1): 43.3 (range: 2.8-113.9) for s-MDS/AML and 61.7 (range: 7.1-231.1) for solid tumour. The 5-year CI of all s-NPLs was of 4.43% and 10 years of 7.92%. Among s-NPLs, there were 58 cases of s-MDS/AML, 3 cases of other hematological neoplasms, 57 solid tumours and 1 non-identified neoplasm. The most frequent solid tumour was colorectal, lung and breast cancer. Overall, the 2-year OS from diagnosis of s-NPLs was 40.6%, with a median OS of 11.1 months. Multivariate analysis identified age of 35 years (hazard ratio = 0.2584; p < 0.0001) as an independent prognostic factor for s-NPLs. There were no significant differences in CI of s-NPLs at 5 years between chemotherapy-based vs chemotherapy-free regimens (hazard ratio = 1.09; p = 0.932). Larger series with longer follow-up are required to confirm the potential impact of ATO+ATRA regimens to reduce the incidence of s-NPLs after front-line therapy for APL.

• MeSH
• akutní promyelocytární leukemie * diagnóza   farmakoterapie   epidemiologie   MeSH
• dospělí MeSH
• incidence MeSH
• lidé MeSH
• patologická kompletní odpověď MeSH
• protokoly antitumorózní kombinované chemoterapie terapeutické užití   MeSH
• retrospektivní studie MeSH
• rizikové faktory MeSH
• sekundární malignity * farmakoterapie   MeSH
• tretinoin MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: The war in Ukraine has led to significant migration to neighboring countries, raising public health concerns. Notable tuberculosis (TB) incidence rates in Ukraine emphasize the immediate requirement to prioritize approaches that interrupt the spread and prevent new infections. METHODS: We conducted a prospective genomic surveillance study to assess migration's impact on TB epidemiology in the Czech Republic and Slovakia. Mycobacterium tuberculosis isolates from Ukrainian war refugees and migrants, collected from September 2021 to December 2022 were analyzed alongside 1574 isolates obtained from Ukraine, the Czech Republic, and Slovakia. RESULTS: Our study revealed alarming results, with historically the highest number of Ukrainian tuberculosis patients detected in the host countries. The increasing number of cases of multidrug-resistant TB, significantly linked with Beijing lineage 2.2.1 (p < 0.0001), also presents substantial obstacles to control endeavors. The genomic analysis identified the three highly related genomic clusters, indicating the recent TB transmission among migrant populations. The largest clusters comprised war refugees diagnosed in the Czech Republic, TB patients from various regions of Ukraine, and incarcerated individuals diagnosed with pulmonary TB specialized facility in the Kharkiv region, Ukraine, pointing to a national transmission sequence that has persisted for over 14 years. CONCLUSIONS: The data showed that most infections were likely the result of reactivation of latent disease or exposure to TB before migration rather than recent transmission occurring within the host country. However, close monitoring, appropriate treatment, careful surveillance, and social support are crucial in mitigating future risks, though there is currently no evidence of local transmission in EU countries.

• MeSH
• dospělí MeSH
• incidence MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• molekulární epidemiologie * MeSH
• multirezistentní tuberkulóza epidemiologie   MeSH
• Mycobacterium tuberculosis * genetika   izolace a purifikace   MeSH
• osoby s přechodným pobytem a migranti * statistika a číselné údaje   MeSH
• ozbrojené konflikty MeSH
• prospektivní studie MeSH
• tuberkulóza * epidemiologie   přenos   MeSH
• uprchlíci * statistika a číselné údaje   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika MeSH
• Ukrajina MeSH

PURPOSE: The aim of this study was to describe the incidence and a complex pathoanatomy of posterior malleolus fractures in a Maisonneuve fracture. METHODS: The study included 100 prospectively collected patients with a complete clinical and radiological documentation of an ankle fracture or fracture-dislocation including a fracture of the proximal quarter of the fibula. RESULTS: A posterior malleolus fracture was identified in 74 patients, and in 27% of these cases it carried more than one quarter of the fibular notch. Displacement of the posterior fragment by more than 2 mm was shown by scans in 72% of cases. Small intercalary fragments were identified in 43% of cases. Fractures of the Tillaux-Chaput tubercle were identified in 20 patients. CONCLUSION: Our study has proved a high rate of posterior malleolus fractures associated with a Maisonneuve fracture, and documented their considerable variability in terms of involvement of the fibular notch, tibiotalar contact area, direction of displacement and frequency of intercalary fragments. Of no less importance is a combination of Tillaux-Chaput fractures with a Maisonneuve fracture.

• MeSH
• dislokovaná fraktura diagnostické zobrazování   MeSH
• dospělí MeSH
• fibula zranění   diagnostické zobrazování   MeSH
• fraktury kotníku * diagnostické zobrazování   chirurgie   MeSH
• incidence MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• počítačová rentgenová tomografie MeSH
• prospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Národní program screeningu kolorektálního karcinomu (KRK) probíhá v České republice od roku 2000 a je příkladem mezioborové spolupráce. Podílí se na něm specialisté z oboru gastroenterologie, praktického lékařství, gynekologie a klinické biochemie. Program je založen na dvou základních metodách – screeningovém imunochemickém testu na okultní krvácení do stolice (iTOKS, FIT) a preventivní koloskopii (TOKS-pozitivní a screeningová koloskopie). O jeho efektivitě vypovídají vysoké počty zachycených kolorektálních prekancerózních a maligních lézí. V letech 2006–2023 bylo v rámci programu provedeno 531 362 preventivních koloskopií, diagnostikováno 202 575 pacientů s adenomy (38,1 %) a 14 473 s karcinomy (2,7 %). Kvalita programu je monitorována na základě indikátorů kvality, které jsou zaměřeny na organizaci (pokrytí cílové populace) i jednotlivé metody. Pokrytí screeningovými testy ve standardním dvouletém sledování se dlouhodobě pohybuje okolo 30 %, v roce 2023 činilo 30,0 % (s výjimkou let 2020 a 2021, kdy došlo k přechodnému poklesu pokrytí na 27 % z důvodu pandemie onemocnění covidem-19). Epidemiologické ukazatele ovlivňují i nescreeningové testy, pokrytí všemi relevantními metodami ve dvouletém intervalu činilo 37,5 % v roce 2023. Koloskopie je hodnocena šesti parametry (počet vyšetření, střevní očista, totální koloskopie, záchyt adenomů celkově, u žen a u mužů). Všechny tyto indikátory splňovalo v roce 2023 celkem 72 % center pro screeningovou koloskopii. Přístroje analyzující TOKS musejí nově procházet pravidelným externím hodnocením kvality (EHK). To by mělo vést také k optimalizaci pozitivity testů, která v roce 2023 dosahovala hodnoty 9,1 %. I díky programu screeningu KRK lze pozorovat příznivé epidemiologické trendy KRK, kdy v letech 2000–2022 došlo k poklesu incidence o 32,3 % a mortality o 47,8 %. Budoucnost programu spočívá v jeho dalším zefektivňování. Cílem je navýšení pokrytí cílové populace při udržení a dalším zvyšování kvality tak, aby byl program realizovatelný a průchodný.

The National Colorectal Cancer Screening Program has been conducted in the Czech Republic since 2000 and serves as an example of interdisciplinary collaboration. Specialists from gastroenterology, general practice, gynecology, and clinical biochemistry are involved in the program. It is based on two primary methods: the screening fecal immunochemical test for occult bleeding (iFOBT, FIT) and preventive colonoscopy (FOBT-positive colonoscopy and screening colonoscopy). The program‘s effectiveness is evidenced by the high number of detected colorectal precancerous and malignant lesions. Between 2006 and 2023, a total of 531,362 preventive colonoscopies were performed, diagnosing 202,575 patients with adenomas (38.1%) and 14,473 patients with cancers (2.7%). Program quality is monitored by indicators focused on both organization (target population coverage) and screening methods. Coverage with screening tests in a 2-year interval has consistently ranged around 30%, except between 2020 and 2021 during the COVID-19 pandemic (27%), reaching 30.0% in 2023. Non-screening tests also affect epidemiological indicators, with total coverage by all relevant methods in a 2-year interval in 2023 amounting to 37.5%. Colonoscopies are evaluated using six parameters (number of examinations, bowel preparation quality, total colonoscopies, and adenoma detection rate in total, in both women and men). In 2023, 72% of screening colonoscopy centers met all of these indicators. FOBT analyzers now must have the regular external quality assessment (EQA), which should help stabilize test positivity, standing at 9.1% in 2023. Thanks to the National Colorectal Cancer Screening Program, favorable epidemiological trends have been observed, with a 32.3% decrease in incidence and a 47.8% decrease in mortality between 2000 and 2022. The future of the program lies in its further optimization, with a goal of both increasing coverage of the target population by examination and quality improvement, ensuring the program’s feasibility and efficiency.

• MeSH
• incidence MeSH
• kolonoskopie MeSH
• kolorektální nádory * diagnóza   mortalita   prevence a kontrola   MeSH
• lidé MeSH
• okultní krev MeSH
• plošný screening metody   MeSH
• primární prevence MeSH
• řízení kvality MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• přehledy MeSH
• Geografické názvy
• Česká republika MeSH

This study evaluated the effects of a neuromuscular training (NMT) warm-up program on injury incidence, neuromuscular function, and program adherence, maintenance and acceptance in adolescent basketball players. A total of 275 players from 20 Slovenian teams (15 ± 1.7 years of age), were randomized into an intervention group (IG, n=129) and a control group (CG, n=146). Over three months, the IG incorporated NMT into their warm-ups, while the CG followed their usual practice. Measurements of body anthropometry, muscle contractile properties, and balance were taken before and after the intervention. Also, the injury incidence, training adherence and maintenance were reported. Both groups showed improved balance, with no significant difference between them. However, IG demonstrated reduced delay times in specific muscles, indicating improved neuromuscular function. Injury prevalence proportion (%) during the whole study period was higher in the control group compared to intervention (IG: 10.9% vs. CG: 23.3%), and incidence rate. Moreover, the incidence rate ratio for sustaining an injury was 2.6 on average (ranging from 0.88 to 7.07 for tendon and muscle injuries, respectively), indicating significantly lower injury risk in IG than CG. These findings highlight the effectiveness of NMT warm-ups in reducing injury risk and enhancing neuromuscular function, emphasizing the value of structured injury prevention strategies in youth sports..

• MeSH
• antropometrie MeSH
• basketbal * zranění   fyziologie   MeSH
• incidence MeSH
• kondiční příprava metody   MeSH
• kosterní svaly zranění   fyziologie   MeSH
• lidé MeSH
• mladiství MeSH
• poranění šlachy prevence a kontrola   epidemiologie   MeSH
• posturální rovnováha fyziologie   MeSH
• sportovní úrazy * prevence a kontrola   epidemiologie   MeSH
• svalová kontrakce fyziologie   MeSH
• svalová síla fyziologie   MeSH
• zahřívací cvičení * MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• randomizované kontrolované studie MeSH
• Geografické názvy
• Slovinsko MeSH

Diabetic foot (DF) can develop in diabetic patients after organ transplantation (Tx) due to several factors including peripheral arterial disease (PAD), diabetic neuropathy and inappropriate DF prevention. Aim: To assess the occurrence of DF and associated risk factors in transplant patients. Methods: Fifty-seven diabetic patients were enrolled as part of this prospective study. All patients underwent organ Tx (01/2013-12/2015) and were followed up for minimum of 12 months up to a maximum of 50 months. Over the study period we evaluated DF incidence and identified a number of factors likely to influence DF development, including organ function, presence of late complications, PAD, history of DF, levels of physical activity before and after Tx, patient education and standards of DF prevention. Results: Active DF developed in 31.6% (18/57) of patients after organ Tx within 11 months on average (10.7 ± 8 months). The following factors significantly correlated with DF development: diabetes control (p = .0065), PAD (p<0.0001), transcutaneous oxygen pressure (TcPO2;p = .01), history of DF (p = .0031), deformities (p = .0021) and increased leisure-time physical activity (LTPA) before Tx (p = .037). However, based on logistic stepwise regression analysis, the only factors significantly associated with DF during the post-transplant period were: PAD, deformities and increased LTPA. Education was provided to patients periodically (2.6 ± 2.5 times) during the observation period. Although 94.7% of patients regularly inspected their feet (4.5 ± 2.9 times/week), only 26.3% of transplant patients used appropriate footwear. Conclusions: Incidence of DF was relatively high, affecting almost 1/3 of pancreas and kidney/pancreas recipients. The predominant risk factors were: presence of PAD, foot deformities and higher LTPA before Tx. Therefore, we recommend a programme involving more detailed vascular and physical examinations and more intensive education focusing on physical activity and DF prevention in at-risk patients before transplantation.

• MeSH
• cvičení fyziologie   MeSH
• diabetická noha * epidemiologie   prevence a kontrola   etiologie   MeSH
• dospělí MeSH
• hodnocení rizik metody   MeSH
• incidence MeSH
• lidé středního věku MeSH
• lidé MeSH
• pooperační komplikace epidemiologie   prevence a kontrola   etiologie   MeSH
• prospektivní studie MeSH
• rizikové faktory MeSH
• transplantace ledvin * škodlivé účinky   metody   MeSH
• transplantace slinivky břišní * škodlivé účinky   metody   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: HIV replication leads to a change in lymphocyte phenotypes that impairs immune protection against opportunistic infections. We examined current HIV replication as an independent risk factor for tuberculosis (TB). METHODS: We included people living with HIV from 25 European cohorts 1983-2015. Individuals <16 years or with previous TB were excluded. Person-time was calculated from enrolment (baseline) to the date of TB diagnosis or last follow-up information. We used adjusted Poisson regression and general additive regression models. RESULTS: We included 272,548 people with a median follow-up of 5.9 years (interquartile range [IQR] 2.3-10.9). At baseline, the median CD4 cell count was 355 cells/μL (IQR 193-540) and the median HIV-RNA level 22,000 copies/mL (IQR 1,300-103,000). During 1,923,441 person-years of follow-up, 5,956 (2.2%) people developed TB. Overall, TB incidence was 3.1 per 1,000 person-years (95% confidence interval [CI] 3.02-3.18) and was four times higher in patients with HIV-RNA levels of 10,000 compared with levels <400 copies/mL in any CD4 stratum. CD4 and HIV-RNA time-updated analyses showed that the association between HIV-RNA and TB incidence was independent of CD4. The TB incidence rate ratio for people born in TB-endemic countries compared with those born in Europe was 1.8 (95% CI 1.5-2.2). CONCLUSIONS: Our results indicate that ongoing HIV replication (suboptimal HIV control) is an important risk factor for TB, independent of CD4 count. Those at highest risk of TB are people from TB-endemic countries. Close monitoring and TB preventive therapy for people with suboptimal HIV control is important.

• MeSH
• dospělí MeSH
• HIV infekce * epidemiologie   imunologie   komplikace   MeSH
• incidence MeSH
• kohortové studie MeSH
• lidé středního věku MeSH
• lidé MeSH
• počet CD4 lymfocytů MeSH
• replikace viru MeSH
• rizikové faktory MeSH
• RNA virová MeSH
• tuberkulóza * epidemiologie   imunologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Evropa MeSH

OBJECTIVES: In this study, the trends and current situation of the injury burden as well as attributable burden to injury risk factors at global, regional, and national levels based on the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 are presented. STUDY DESIGN: To assess the attributable burden of injury risk factors, the data of interest on data sources were retrieved from the Global Health Data Exchange (GHDx) and analyzed. METHODS: Cause-specific death from injuries was estimated using the Cause of Death Ensemble model in the GBD 2019. The burden attributable to each injury risk factor was incorporated in the population attributable fraction to estimate the total attributable deaths and disability-adjusted life years. The Socio-demographic Index (SDI) was used to evaluate countries' developmental status. RESULTS: Globally, there were 713.9 million (95% uncertainty interval [UI]: 663.8 to 766.9) injuries incidence and 4.3 million (UI: 3.9 to 4.6) deaths caused by injuries in 2019. There was an inverse relationship between age-standardized disability-adjusted life year rate and SDI quintiles in 2019. Overall, low bone mineral density was the leading risk factor of injury deaths in 2019, with a contribution of 10.5% (UI: 9.0 to 11.6) of total injuries and age-standardized deaths, followed by occupational risks (7.0% [UI: 6.3-7.9]) and alcohol use (6.8% [UI: 5.2 to 8.5]). CONCLUSION: Various risks were responsible for the imposed burden of injuries. This study highlighted the small but persistent share of injuries in the global burden of diseases and injuries to provide beneficial data to produce proper policies to reach an effective global injury prevention plan.

• MeSH
• celosvětové zdraví * statistika a číselné údaje   MeSH
• dítě MeSH
• dospělí MeSH
• globální zátěž nemocemi * trendy   MeSH
• incidence MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• osobní újma zaviněná nemocí MeSH
• počet let života s onemocněním * MeSH
• předškolní dítě MeSH
• příčina smrti MeSH
• rány a poranění * epidemiologie   mortalita   MeSH
• rizikové faktory MeSH
• senioři MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Úvod: Incidence nádorů štítné žlázy celosvětově stoupá. Mezi nejčastější zhoubné nádory štítné žlázy patří dobře diferencované karcinomy (WDTC), zejména papilární karcinom štítné žlázy (PTC) a folikulární karcinom štítné žlázy (FTC), které patří mezi nejčastější zhoubné nádory endokrinního systému. Méně často je diagnostikován medulární karcinom štítné žlázy (MTC). Genetické změny určují agresivní chování nádorů a zvyšují metastatický potenciál nádorů štítné žlázy. Cílem práce je zjistit incidenci bodových mutací genů a fúzních genů u pacientů s cytologií Bethesda III–VI jako možného prediktoru indikace rozsahu chirurgických výkonů na štítné žláze. Metodika: Studie byla prospektivně-retrospektivní a zahrnovala pacienty operované na Klinice otorinolaryngologie a maxilofaciální chirurgie 3. LF UK a ÚVN Praha v období 1. 7. 2019 do 1. 7. 2022, tedy období 36 měsíců. Do studie bylo zařazeno celkem 273 osob. V detekci BRAF V600E genu byla použita alela specifického realtime PCR (LC480, Roche). Mutace TERT byla detekována přímou sekvenací (CEQ 8000, BeckmanCoulter), vzorky byly analyzovány PCR (MiSeq, Illumina) a dále byl použit Thyro-ID panel (4base) detekce dalších 12 genů. Dále bylo testováno 23 fúzních genů včetně ALK, BRAF, GLIS3, NTRK1, NTRK3, PPARG, RET genu využitím realtime PCR, MTC test mutací genu RET a RAS. Výsledky: Do souboru bylo zařazeno 273 operovaných s předoperační cytologií Bethesda III–VI. V souboru bylo 21 (7,7 %) mužů a 256 (93,77 %) žen. Histologicky bylo potvrzeno 103 (37,72 %) karcinomů a ve 170 případech (62,27 %) s nálezem nezhoubného nádoru. Bethesda III benigních histologií bylo 118 (63,78%), 67 pacientů (36,21 %) si vyslechlo diagnózu karcinomu. Bethesda IV benigních histologií bylo 50 (70,42 %) a 21 (29,58 %) maligních nádorů. Bodová mutace BRAF V600E byla detekována u 63,85 % PTC a jen jednou u benigního nádoru a jednoho NIFTP nálezu. V souboru bylo zastoupení PTC 83 (76,14 %), FTC a jeho varianty 14 (12,84 %) a MTC byl detekován u 6 (5,5 %) nádorů souboru. Závěry: Bodová mutace BRAF V600E byla detekována u 63,85 % PTC a jen jednou u benigního nádoru a jednoho NIFTP nálezu.

Introduction: The incidence of thyroid tumours is increasing worldwide. The most common malignant tumours of the thyroid gland include well-differentiated carcinomas (WDTC), especially papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC). Medullary thyroid carcinoma (MTC) is less commonly diagnosed. Genetic changes determine the aggressive behavior of tumours and increase the metastatic potential of thyroid tumours. The aim of the study is to determine the incidence of point gene mutations and gene fusions in patients with Bethesda III–VI cytology as a possible predictor of indication of the extent of surgical procedures on the thyroid gland. Materials and methods: The study was prospective-retrospective and included patients operated on at the Department of Otorhinolaryngology and Maxillofacial Surgery of the 3rd Faculty of Medicine, Charles University and the Military University Hospital from July 1, 2019 to July 1, 2022, i.e. a period of 36 months. In the detection of the BRAF V600E gene, the allele of specific Real-Time PCR (LC480, Roche), the TERT gene mutation by direct sequencing (CEQ 8000, Beckman Coulter) was used, samples were analyzed by PCR (MiSeq, Illumina), and the Thyro-ID panel (4base) was used to detect another 12 genes. In addition, 23 fusion genes were tested, including ALK, BRAF, GLIS3, NTRK1, NTRK3, PPARG, and RET gene using Real-Time PCR, and MTC test for mutations in the RET gene and RAS. Results: The study included 273 patients with preoperative cytology Bethesda III–VI. The study was based on 21 (7.7%) men and 256 (93.77%) women. In the group, 103 (37.72%) cancers were histologically confirmed and 170 (62.27%) were found to have a benign tumour. Bethesda III were benign histologies with 118 (63.78%) that were verified, and 67 patients (36.21%) were diagnosed with any type of carcinoma. In Bethesda IV, there were 50 (70.42%) confirmed benign histologies and 21 patients (29.58%) had malignant tumours. BRAF V600E point mutation was detected in 63.85% of papillary thyroid carcinoma and only once in a benign tumour, and one NIFTP case was confirmed. Papillary carcinoma was presented in 83 (76.14%) patients, follicular carcinoma and its variants was in 14 (12.84%) patients, and medullary carcinoma was detected in 6 (5.5%) cases in the group. Conclusions: BRAF V600E point mutation was detected in 63.85% of well differentiated thyroid carcinomas and in other diagnoses, any mutation detected was rare.

• Klíčová slova
• BRAF mutace,
• MeSH
• bodová mutace * genetika   MeSH
• incidence MeSH
• lidé MeSH
• nádory štítné žlázy * diagnóza   genetika   klasifikace   patologie   MeSH
• onkogenní fúze genetika   MeSH
• prospektivní studie MeSH
• retrospektivní studie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH