Klinicka Onkologie最新文献

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Precision medicine in hemato-oncology - treatment of refractory multiple myeloma with massive extramedullary involvement using BRAF/ MEK inhibitors. 精准医学在血液肿瘤学中的应用——使用BRAF/ MEK抑制剂治疗髓外大面积受累的难治性多发性骨髓瘤。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko2025390
M Štork, J Kotašková, E Ondroušková, M Borský, A Marečková, N Sendlerová, J Mayerová, M Brada, I Boichuk, K Menšíková, Z Adam, M Krejčí, V Sandecká, Z Jelínková, M Krtička, V Nekuda, M Bilčíková, V Hrabčáková, L Vojtková, M Jarošová, P Šlampa, L Pour
{"title":"Precision medicine in hemato-oncology - treatment of refractory multiple myeloma with massive extramedullary involvement using BRAF/ MEK inhibitors.","authors":"M Štork, J Kotašková, E Ondroušková, M Borský, A Marečková, N Sendlerová, J Mayerová, M Brada, I Boichuk, K Menšíková, Z Adam, M Krejčí, V Sandecká, Z Jelínková, M Krtička, V Nekuda, M Bilčíková, V Hrabčáková, L Vojtková, M Jarošová, P Šlampa, L Pour","doi":"10.48095/ccko2025390","DOIUrl":"10.48095/ccko2025390","url":null,"abstract":"<p><strong>Background: </strong>Multiple myeloma (MM) with extramedullary disease (EMD) represents a subgroup with particularly poor prognosis. The application of precision medicine principles, especially targeted therapy based on the tumor's molecular profile, is a potentially effective treatment strategy.</p><p><strong>Case: </strong>We present a case of a patient with relapsed/refractory MM and extensive EMD in whom a BRAFV600E mutation was identified using next-generation sequencing. Based on these results, combined treatment with BRAF (enkorafenib) and MEK (binimetinib) inhibitors was initiated, resulting in early regression of tumor lesions and a biochemical response. The therapy was well tolerated despite the patient's advanced disease and comorbidities. After several months, a new plasmacytoma lesion developed that no longer responded to treatment.</p><p><strong>Results: </strong>Molecular analysis of the resistant lesion revealed biallelic inactivation of the TP53 tumor suppressor gene, which was not present in the original lesions. This alteration likely represents a mechanism of acquired resistance. The dynamics of the BRAFV600E mutation were also monitored in plasma using cfDNA and digital PCR.</p><p><strong>Conclusion: </strong>This case illustrates the potential of precision therapy in the treatment of MM with BRAFV600E mutation. Panel sequencing and minimally invasive approaches to diagnosis and disease monitoring can significantly contribute to personalized care and a better understanding of disease dynamics.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 5","pages":"390-397"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Laparoscopic resection of retroperitoneal metastasis originating from sternal leiomyosarcoma - a case report. 腹腔镜切除胸骨平滑肌肉瘤腹膜后转移1例。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko2025302
O Ioannidis, E Kotidis, E Anestiadou, I Matzarakis, J P Skliris, S Symeonidis, S Bitsianis, O Kerasidou, M Kaprianou, C Chatzianestiadou, E Salta-Poupnara, F Tserkezidis, K Angelopolos, S Angelopoulos
{"title":"Laparoscopic resection of retroperitoneal metastasis originating from sternal leiomyosarcoma - a case report.","authors":"O Ioannidis, E Kotidis, E Anestiadou, I Matzarakis, J P Skliris, S Symeonidis, S Bitsianis, O Kerasidou, M Kaprianou, C Chatzianestiadou, E Salta-Poupnara, F Tserkezidis, K Angelopolos, S Angelopoulos","doi":"10.48095/ccko2025302","DOIUrl":"https://doi.org/10.48095/ccko2025302","url":null,"abstract":"<p><strong>Background: </strong>Leiomyosarcomas are malignancies of smooth muscle differentiation that can metastasize early through hematogenous spread. Leiomyosarcoma of the sternum is extremely rare, with an incidence of &lt; 0.7% among malignant bone tumors.</p><p><strong>Case: </strong>We report the case of a 66-year-old male with a retroperitoneal metastasis located in the right pararenal space, originating from a sternal leiomyosarcoma. Three years earlier, the patient had undergone partial excision of the sternum and costal cartilages, followed by thoracic wall osteosynthesis, for the primary tumor. Follow-up imaging with CT and PET-CT revealed a mass in the right perirenal space, situated between the upper pole of the right kidney and the right adrenal gland. In the absence of other metastatic lesions and following multidisciplinary oncology team discussion, the patient underwent laparoscopic en bloc metastasectomy and right adrenalectomy.</p><p><strong>Results: </strong>Histopathological examination confirmed the metastatic nature of the tumor with negative resection margins. Postoperatively, the patient experienced fever due to atelectasis, which resolved with intravenous antibiotics. He was discharged on the 6th postoperative day and remains free of recurrence at a two-year follow-up.</p><p><strong>Conclusion: </strong>Minimally invasive surgical techniques allow for oncological resection of retroperitoneal metastatic lesions with low perioperative morbidity and mortality. Resection of isolated lymph node metastases has been shown to improve overall survival and disease control.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 4","pages":"302-306"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cardiac metastasis of urothelial carcinoma mimicking ST-elevation myocardial infarction. 模拟st段抬高型心肌梗死的尿路上皮癌的心脏转移。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko2025479
L Chaloupková, V Suchánek, T Büchler
{"title":"Cardiac metastasis of urothelial carcinoma mimicking ST-elevation myocardial infarction.","authors":"L Chaloupková, V Suchánek, T Büchler","doi":"10.48095/ccko2025479","DOIUrl":"https://doi.org/10.48095/ccko2025479","url":null,"abstract":"<p><strong>Background: </strong>Urothelial carcinoma (UC) is the second most common malignancy of the urinary tract. While distant metastases are relatively frequent in advanced UC, cardiac involvement is exceedingly rare and typically asymptomatic. When present, it may mimic acute cardiovascular events, complicating timely diagnosis and management.</p><p><strong>Case: </strong>We describe the case of an 81-year-old man with a history of metabolic syndrome and stable cardiac disease, who was diagnosed with high-grade urothelial carcinoma of the renal pelvis with pulmonary metastases. Two months after nephroureterectomy and during first-line carboplatin chemotherapy, the patient presented with progressive dyspnoea. ECG showed ST-segment elevations suggestive of acute myocardial infarction, yet urgent coronary angiography and laboratory markers excluded acute coronary syndrome. Echocardiography and cardiac MRI revealed a large myocardial metastasis infiltrating the right ventricle and interventricular septum. Given the advanced stage and poor prognosis, active oncologic treatment was discontinued, and palliative care was initiated.</p><p><strong>Results: </strong>This case highlights a rare presentation of cardiac metastasis mimicking ST-elevation myocardial infarction in a patient with advanced urothelial carcinoma. Multimodal cardiac imaging was key to establishing the diagnosis. Despite its rarity, myocardial infiltration should be considered in oncologic patients presenting with cardiac symptoms and ECG abnormalities.</p><p><strong>Conclusion: </strong>Cardiac metastases from urothelial carcinoma are rare but clinically significant, often associated with poor outcomes. ECG changes resembling myocardial infarction warrant thorough evaluation, particularly in patients with known malignancy. Early diagnosis, even in the absence of curative options, may help guide appropriate palliative care.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 6","pages":"479-483"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146004305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A supportive programme for cancer patients based on knowledge of the neurobio logy of cancer. 一个基于癌症神经生物学知识的癌症患者支持计划。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko20256
B Mravec
{"title":"A supportive programme for cancer patients based on knowledge of the neurobio logy of cancer.","authors":"B Mravec","doi":"10.48095/ccko20256","DOIUrl":"10.48095/ccko20256","url":null,"abstract":"<p><strong>Background: </strong>The importance of stress in cancer has been noted by physicians since the time of Galen. However, it is only in the last two decades that combined oncological and neuroscientific research has allowed to explore this relationship in an exact way and to describe the pathways and mechanisms that mediate the stimulatory effect of stress on cancer. This adverse effect of stress is mediated mainly by the mediators of the sympathoadrenal system, norepinephrine and epinephrine, which, by activating adrenergic receptors in the tumor micro- and macro-environment, stimulate tumor cell proliferation and neoangiogenesis and inhibit antitumor immunity, reducing the efficacy of standard anticancer therapies. It has also been found that interventions reducing the effects of stress on the body not only improve the quality of life of cancer patients but may also improve their survival. Given the complexity of the impact of stress on the organism, experimental and clinical studies have overwhelmingly focused on investigating the effect of a single intervention reducing the stimulatory influence of the sympathoadrenal system on the cancer process.</p><p><strong>Purpose: </strong>The aim of this opinion article is to highlight the possibility of a synergistic effect of a combination of several interventions limiting the activation of the sympathoadrenal system and, based on the available data, to propose a combination of these interventions that is applicable in the supportive treatment of cancer patients even nowadays.</p><p><strong>Conclusion: </strong>The Protocol Synergy, which includes non-pharmacological interventions aimed at reducing the effects of stress on the cancer patient, has the potential to improve the quality and, in certain patients, the prognosis of their disease. Although the introduction of this protocol into routine clinical practice will require addressing the personnel and financial aspects associated with its implementation, it has the potential to significantly improve the level of care for cancer patients.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 1","pages":"6-15"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Colorectal carcinoma - epidemiology, risk factors, prognostic bio markers. 结直肠癌-流行病学,危险因素,预后生物标志物。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko202516
M Hančinová, D Ondruš, M Ondrušová, B Mrinakova
{"title":"Colorectal carcinoma - epidemiology, risk factors, prognostic bio markers.","authors":"M Hančinová, D Ondruš, M Ondrušová, B Mrinakova","doi":"10.48095/ccko202516","DOIUrl":"10.48095/ccko202516","url":null,"abstract":"<p><strong>Background: </strong>In terms of epidemiology, colorectal carcinoma (CRC) represents one of the most prevalent tumors worldwide. Progress in research has translated into reduced mortality of the disease, but the trend of early onset CRC troubles most of the developed countries. Identification and validation of effective prognostic biomarkers are crucial for improving diagnostic accuracy and treatment outcomes.</p><p><strong>Purpose: </strong>The objective of the work is to analyze the latest data on the epidemiology and risk factors of CRC. A narrative review also aims to summarize current knowledge about various prognostic biomarkers in the treatment of CRC, including indicators of performance status, nutritional, and inflammatory markers.</p><p><strong>Conclusion: </strong>CRC pose major health problem in most of the countries and the tumor biomarkers as well as patients pre-treatment condition are crucial to establish prognosis of the disease. Nutritional and performance status indicators play an essential role in assessing the patient's condition and influence treatment decisions, with a potential impact on treatment outcomes. Inflammatory markers have demonstrated significant prognostic value, correlating with the patient's immune response to the tumor and inflammatory processes that may promote disease progression. Despite promising predictive capabilities, these biomarkers are not yet routinely used in clinical practice due to the need for further research validation. The integration of new biomarkers into clinical practice could lead to more personalized treatment decisions and improved treatment outcomes. For a more comprehensive assessment of the validity of these biomarkers and their application in regular clinical practice, further research is necessary.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 1","pages":"16-24"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cancer in the elderly in Slovakia. 斯洛伐克老年人患癌症。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko2025177
M Ondrušová, S Vándor Svidová, A Blažová, D Ondruš
{"title":"Cancer in the elderly in Slovakia.","authors":"M Ondrušová, S Vándor Svidová, A Blažová, D Ondruš","doi":"10.48095/ccko2025177","DOIUrl":"https://doi.org/10.48095/ccko2025177","url":null,"abstract":"<p><strong>Objective: </strong>The present publication focuses on the analysis of the development of basic epidemiological indicators of the most frequently occurring cancers in elderly population in Slovakia.</p><p><strong>Results: </strong>The proportion of the elderly in cancer incidence and mortality in Slovakia is higher than that of younger patients (0-64 years) and is increasing. The most frequently diagnosed cancers include bronchus and lung cancer, colorectal cancer, breast cancer in females and prostate cancer in males. The average age of the whole population at diagnosis and at death for all diagnoses (except prostate cancer) in both males and females increases over the study period. The average age at diagnosis of prostate cancer is decreasing, while the average age at death is increasing. The age-standardized rate (world) (ASR-W) incidence and mortality rates for lung cancer in elderly males are decreasing, whereas they are increasing in females. ASR-W incidence of colorectal cancer is stable in elderly males but shows an increasing trend in females. Mortality from colorectal cancer is decreasing in both males and females. ASR-W incidence and mortality for prostate cancer in elderly males are decreasing. ASR-W incidence of breast cancer shows an increasing trend in elderly females, while the mortality rate is decreasing insignificantly.</p><p><strong>Conclusion: </strong>The growing cancer burden in the elderly will place an increasing burden on the health care system, so focus on prevention and early cancer diagnosis will be necessary.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 3","pages":"177-184"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Changes in the approach to the analysis and evaluation of inherited pathogenic TP53 variants. 遗传致病性TP53变异分析和评价方法的变化。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko2025358
B Konečná, V Krutílková, P Kleiblová, L Macůrek, Z Kleibl
{"title":"Changes in the approach to the analysis and evaluation of inherited pathogenic TP53 variants.","authors":"B Konečná, V Krutílková, P Kleiblová, L Macůrek, Z Kleibl","doi":"10.48095/ccko2025358","DOIUrl":"https://doi.org/10.48095/ccko2025358","url":null,"abstract":"<p><strong>Background: </strong>Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder characterized by an extreme lifetime risk of multiple and early-onset tumors, driven by inherited pathogenic variants in the TP53 gene. While somatic mutations in TP53 are among the most frequent genetic alterations in cancer, germline mutations remain rare. Although LFS has long been recognized as a prototypical cancer predisposition syndrome, recent advances have significantly reshaped its diagnostic criteria and deepened our understanding of its associated cancer risks.</p><p><strong>Objective: </strong>The review illustrates the evolving diagnostic landscape of LFS and the updated indication criteria for germline TP53 testing, which have broadened the definition of the syndrome into the more inclusive entity of heritable TP53-related cancer predisposition syndrome (hTP53rc). The adoption of NGS has streamlined molecular diagnostics in hereditary cancer syndromes. Germline analysis of TP53 has become standard practice in hereditary cancer predisposition testing, even if a proband does not exhibit a LFS phenotype. However, the accurate identification of germline pathogenic TP53 variants remains challenging, particularly due to confounding factors, such as mosaicism or clonal hematopoiesis of indeterminate potential. Confirmatory testing using an independent tissue sample, along with estimation of allelic fraction is necessary to distinguish true germline variants. Another major hurdle is the assessment of the pathogenicity of rare germline TP53 variants, which requires a thorough genotype-phenotype correlation analyses. Recently, gene-specific American College of Medical Genetics and Genomics / Association for Molecular Pathology criteria have been introduced to support the classification of germline TP53 variants. Importantly, only carriers of a clearly established germline pathogenic variant should be considered for inclusion in an intensive clinical surveillance and prevention program.</p><p><strong>Conclusion: </strong>The present work underscores a paradigm shift in the understanding of one of the most significant cancer predisposition syndromes and aims to stimulate further discussion on the organization of care for high-risk carriers of pathogenic TP53 variants in the Czech Republic.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 5","pages":"358-367"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Stereotactic radiotherapy (SIMT FSRT) of brain metastases in a patient with ALK-positive lung adenocarcinoma. 立体定向放疗(SIMT - FSRT)治疗alk阳性肺腺癌患者脑转移。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko2025398
L Hnidáková, P Pospíšil, J Garčic, P Grell, R Belanová, L Hynková, J Maistryszinová, O Bílek, P Turčáni, P Burkoň, M Slavik, P Šlampa, T Kazda
{"title":"Stereotactic radiotherapy (SIMT FSRT) of brain metastases in a patient with ALK-positive lung adenocarcinoma.","authors":"L Hnidáková, P Pospíšil, J Garčic, P Grell, R Belanová, L Hynková, J Maistryszinová, O Bílek, P Turčáni, P Burkoň, M Slavik, P Šlampa, T Kazda","doi":"10.48095/ccko2025398","DOIUrl":"https://doi.org/10.48095/ccko2025398","url":null,"abstract":"","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 5","pages":"398-400"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current complex treatment for cervical cancer. 目前宫颈癌的综合治疗。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko2025185
R Soumarová, J Havlík
{"title":"Current complex treatment for cervical cancer.","authors":"R Soumarová, J Havlík","doi":"10.48095/ccko2025185","DOIUrl":"https://doi.org/10.48095/ccko2025185","url":null,"abstract":"<p><strong>Background: </strong>Cervical cancer has shown declining incidence and mortality in recent years, yet it remains a serious societal problem. This is mainly due to its prevalence in younger age groups and the relatively difficult treatment of advanced stages. Treatment of the early stages is predominantly in the hands of gynecologists, while modern radiation therapy combined with systemic therapy is now the standard treatment for advanced stages. More controversial is the indication and position of neoadjuvant systemic therapy before surgery or radiotherapy. In addition to chemotherapy, the role of immunotherapy in metastatic disease is increasing. The addition of immunotherapy to radiation therapy in locally advanced disease also improves oncological outcomes.</p><p><strong>Aim: </strong>This article summarizes current primarily nonsurgical therapies and outlines directions in the treatment of cervical cancer.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 3","pages":"185-191"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Present management of gastrointestinal stromal tumors. 胃肠道间质瘤的治疗现状。
Klinicka Onkologie Pub Date : 2025-01-01 DOI: 10.48095/ccko2025170
S Batko
{"title":"Present management of gastrointestinal stromal tumors.","authors":"S Batko","doi":"10.48095/ccko2025170","DOIUrl":"https://doi.org/10.48095/ccko2025170","url":null,"abstract":"<p><strong>Background: </strong>Gastrointestinal stromal tumors (GISTs) are rare tumors of the digestive tract that have seen significant advances in diagnosis and treatment in recent years. A key breakthrough was the identification of c-KIT and PDGFRA gene mutations, which enabled the introduction of targeted therapies. The cornerstone of the treatment for localized disease is radical (R0) surgical resection, with adjuvant imatinib recommended for patients at high risk of recurrence. In advanced or metastatic disease, standard care involves sequential treatment with tyrosine kinase inhibitors, including imatinib, sunitinib, and regorafenib. A major advance is represented by ripretinib, which effectively inhibits a broad spectrum of KIT and PDGFRA mutations and has been shown to prolong survival in patients with advanced GIST refractory to current options of systemic therapy. The expanding range of targeted therapies, such as avapritinib for the PDGFRA D842V mutation, underscores the importance of molecular profiling in guiding optimal treatment strategies.</p><p><strong>Aim: </strong>This review aims to summarize current knowledge on the diagnosis and treatment of GIST, with a focus on the role of molecular-genetic profiling, the therapeutic value of individual tyrosine kinase inhibitors, and emerging options for advanced disease, with particular emphasis on ripretinib.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":"38 3","pages":"170-176"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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