Magyar onkologia最新文献

[Germline mutations define the prognosis and therapy of pheochromocytomas and paragangliomas].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2025-03-04

Balázs Sarkadi, Attila Patócs

引用次数: 0

[First results of comprehensive genomic studies on solid tumours in National Institute of Oncology].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2025-03-03

Erika Tóth, Erzsébet Csernák, Andrea Kohánka, László Báthory-Fülöp, Henriett Butz, Attila Patócs, Tamás Pintér, Zsolt Horváth, Zsófia Küronya, Tamás Strausz, Imola Adamik, Zsombor Melegh

{"title":"[First results of comprehensive genomic studies on solid tumours in National Institute of Oncology].","authors":"Erika Tóth, Erzsébet Csernák, Andrea Kohánka, László Báthory-Fülöp, Henriett Butz, Attila Patócs, Tamás Pintér, Zsolt Horváth, Zsófia Küronya, Tamás Strausz, Imola Adamik, Zsombor Melegh","doi":"","DOIUrl":"","url":null,"abstract":"Aims: The Molecular Pathology Laboratory of the National Institute of Oncology has been performing comprehensive genomic studies (500-gene panel) since 2021. This paper summarizes our results obtained between 2022 and 2024, focusing on clinical requests, the histological type of cases studied and the potential therapeutic benefit of identified variants.Methods: Comprehensive genomic profiling was performed using next generation sequencing on an Ion S5 Plus system (Thermo Fisher Scientific) with Oncomine Comprehensive Assay Plus kit. DNA and RNA were extracted from formalin- fixed, paraffin-embedded samples.Results: 402 analyses were performed. We identified mutations with therapeutic significance in 37.3% (150/402) of cases, including 26.4% (106/402) of cases with on label therapies. The most frequently investigated cases were soft tissue sarcomas and gynaecological tumours.Conclusions: Genetic alterations with therapeutic relevance primarily include high TMB and high GIS. Previously unknown mutations suitable for targeted therapy were rarely identified, as almost all cases had previously undergone small targeted panel testing.","PeriodicalId":94127,"journal":{"name":"Magyar onkologia","volume":"69 1","pages":"15-22"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675054","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

[The role of immunosurveillance and immunoediting in hereditary cancer predisposition syndromes].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2024-11-18

Klaudia Horti-Oravecz, István Kelemen, Kornél Vince Grolmusz

引用次数: 0

[Thyroid surgery in local anesthesia: renewal of an old method].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2025-01-20

Bernadett Lévay, Beáta Sántha, Alexandra Kiss, Mónika Révész, Balázs Kovács, Ákos Both, Ferenc Zelenai, Ferenc Oberna

{"title":"[Thyroid surgery in local anesthesia: renewal of an old method].","authors":"Bernadett Lévay, Beáta Sántha, Alexandra Kiss, Mónika Révész, Balázs Kovács, Ákos Both, Ferenc Zelenai, Ferenc Oberna","doi":"","DOIUrl":"","url":null,"abstract":"Aim: Before the introduction of general anesthesia, thyroid operations were performed under local anesthesia. With the development of anesthesia, surgeons preferred to operate in narcosis. Nowadays regional anesthesia has become popular leading to faster recovery.Methods: At the Multidisciplinary Head and Neck Cancer Center of our institute, between May 2019 and October 2024, 11 patients were treated in regional anesthesia with the blockage of the superficial branches of the cervical plexus, followed by an ultrasound-guided thyroid capsule sheath space block. Patients were previously given 2 mg of i.v. midazolam, in case of need 50 μg of i.v. fentanyl under hemodynamic monitoring.Results: One patient had transient Horner's syndrome, one patient suffered from transient left shoulder numbness. The average operating time was 42.7 minutes (25-80 minutes). The incidence of postoperative pain, nausea and vomiting were reduced.Conclusions: Regional nerve block anesthesia as an alternative of narcosis can be used in thyroid surgery, offering several advantages.","PeriodicalId":94127,"journal":{"name":"Magyar onkologia","volume":"69 1","pages":"73-76"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674611","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

[Pathogenic large duplication in TP53 as a hereditary predisposing factor in breast cancer].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2024-11-13

Viktória Kovács, Henriett- Butz, János Papp, Tímea Pócza, Kornél Vince Grolmusz, Petra Nagy, Attila Patócs, Anikó Bozsik

{"title":"[Pathogenic large duplication in TP53 as a hereditary predisposing factor in breast cancer].","authors":"Viktória Kovács, Henriett- Butz, János Papp, Tímea Pócza, Kornél Vince Grolmusz, Petra Nagy, Attila Patócs, Anikó Bozsik","doi":"","DOIUrl":"","url":null,"abstract":"Aim: Germline pathogenic variants of TP53 are associated with Li-Fraumeni syndrome and represent a high risk for hereditary breast and ovarian cancer. We identified a germline, multi-exon heterozygous duplication variant in TP53, NM_000546.6:dup(ex2-5), in a young triple-negative breast cancer patient. We aimed to assign its pathogenicity.Methods: DNA and RNA (cDNA) level specific amplification tests and sequencings were performed to identify the genomic duplication breakpoint and to detect the presence of defective transcripts.Results: cDNA tests revealed aberrant transcript, which causes a shift in the reading frame. Allelic imbalance was also observed, indicating degradation of the defective RNA product. By locating the breakpoints at the DNA level, we determined that 6975 bp was repeated in tandem and in the same orientation. We also revealed the possible mechanism of the structural rearrangement.Conclusions: We established that the duplication identified at DNA level manifested in the mRNA and coded for a non-functional protein. Based on these data, we were able to classify this duplication variant as pathogenic, which affects the patient's therapeutic options and justifies genetic screening of family members.","PeriodicalId":94127,"journal":{"name":"Magyar onkologia","volume":"69 1","pages":"43-49"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675128","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

[The status of precision medicine in Hungary in the light of European practice].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2025-03-01

Attila Patócs, Erika Tóth, Henriett Butz, Kornél Vince Grolmusz, László Báthory-Fülöp, Ádám Gábor Kovács, János Héczei, Csaba Polgár

{"title":"[The status of precision medicine in Hungary in the light of European practice].","authors":"Attila Patócs, Erika Tóth, Henriett Butz, Kornél Vince Grolmusz, László Báthory-Fülöp, Ádám Gábor Kovács, János Héczei, Csaba Polgár","doi":"","DOIUrl":"","url":null,"abstract":"Background and aim: Molecular genetic diagnostics is a complex process, most modern laboratory technologies, IT procedures, data management, medical decision support systems, databases and algorithms are used together. Oncological treatments are expensive procedures and the effectiveness of individual therapies varies in different subtypes of cancer. Nowadays, agnostic approach is increasingly emerging in oncological treatments, i.e. the unique characteristics of the tumors determines the therapeutic direction for each patient. With the development of diagnostic technologies, more and more data are being collected about the biology and genetic characteristics of tumors. Our current work summarizes the milestones of precision oncology and presents those European projects which focus on elimination of inequalities between countries.Results: Milestones of domestic precision medicine oncology program have been closely linked to European initiatives.Conclusion: The developed and introduced procedures in Hungary are unique among European countries and resulted in a significant improvement of patient care.","PeriodicalId":94127,"journal":{"name":"Magyar onkologia","volume":"69 1","pages":"7-12"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674610","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

[Physical therapy of cancer patients - narrative review and expert opinion].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2024-09-30

Tamás Bender, Éva Szekanecz, Izabella Gomez, Irén Péntek, Anikó Maráz, Magdolna Dank, Zoltán Szekanecz

{"title":"[Physical therapy of cancer patients - narrative review and expert opinion].","authors":"Tamás Bender, Éva Szekanecz, Izabella Gomez, Irén Péntek, Anikó Maráz, Magdolna Dank, Zoltán Szekanecz","doi":"","DOIUrl":"","url":null,"abstract":"Aim: The issue of physical therapy for people with malignancies has been very controversial. In the past, physical therapy was completely contraindicated in cancer patients. Many doctors are still conservative regarding this issue. Therefore, based on a narrative summary of literature data, we compiled a consensus-based expert opinion.Methods: The narrative summary was prepared based on publications of the last 5 years. Then the expert group created an expert opinion based on a common consensus.Results: We created a concise expert opinion consisting of 10 points and a practical algorithm. The use of physical therapy is established jointly by the patient, doctors and health professionals. Exercise is essentially recommended for everyone. We formulated specific recommendations regarding massage, ultrasound, laser, shockwave, TENS and balneotherapy. These methods can be used with appropriate precautions in cancer patients. On the other hand, most electrotherapy modalities are not recommended, while the evaluation of massage in patients with osteosarcoma is not clear, so we prefer not to recommend it.Conclusions: Exercise, certain modalities of physical therapy and balneotherapy can be useful additions to the rehabilitation of cancer patients.","PeriodicalId":94127,"journal":{"name":"Magyar onkologia","volume":"69 1","pages":"80-88"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675133","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

[Results of malnutrition risk self-screening in Hungarian oncology patients].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2024-12-03

Barbara Belák, Erzsébet Pálfi, Béla Mokánszki, Andrea Molnár

引用次数: 0

[Diagnostic approaches and clinical relevance of hereditary hematological malignancies].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2024-12-07

Dóra Csabán, Éva Adrienn Borsy, Lívia Varga, Lenke Tankó, Zoltán Őrfi, András Bors, József Harasztdombi, János Fábián, Andrea Várkonyi, Viktor Lakatos, Krisztián Kállay, Gergely Kriván, László Gopcsa, Péter Reményi, Hajnalka Andrikovics

{"title":"[Diagnostic approaches and clinical relevance of hereditary hematological malignancies].","authors":"Dóra Csabán, Éva Adrienn Borsy, Lívia Varga, Lenke Tankó, Zoltán Őrfi, András Bors, József Harasztdombi, János Fábián, Andrea Várkonyi, Viktor Lakatos, Krisztián Kállay, Gergely Kriván, László Gopcsa, Péter Reményi, Hajnalka Andrikovics","doi":"","DOIUrl":"","url":null,"abstract":"Hereditary hematological malignancies (HHM) are characterized by genetic heterogeneity, variable penetrance, and expressivity. Although individual gene involvement is rare, germline pathogenic variants are estimated to be present in at least 5-10% of hematological malignancies. In cases diagnosed at young age, with positive family history, or with multiple malignancies (including myeloid neoplasms after cytotoxic treatments), the prevalence rises, reaching 13-21%. Germline-focused tumor analysis may suggest genetic predisposition even without clinical suspicion. Using larger gene panels or whole-exome sequencing can further increase the detection rate of pathogenic germline variants to over 20%. In HHM, peripheral blood/bone marrow samples may contain somatic and germline variants. Germline confirmation requires non-hematopoietic samples, such as hair follicles or fibroblast cultures. Identifying HHM has clinical implications, especially in the timing of allogeneic stem cell transplantation, donor selection, conditioning, and follow-up. Genetic screening and counseling are essential for predisposed patients and family members to provide interdisciplinary care.","PeriodicalId":94127,"journal":{"name":"Magyar onkologia","volume":"69 1","pages":"61-72"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675049","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

[Pathogenic role of CHEK2 variants in Hungarian cancer patients: implications for breast cancer risk and genetic counselling].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2024-10-14

Petra Nagy, János Papp, Kornél Vince Grolmusz, Anikó Bozsik, Tímea Pócza, Attila Patócs, Henriett Butz

{"title":"[Pathogenic role of CHEK2 variants in Hungarian cancer patients: implications for breast cancer risk and genetic counselling].","authors":"Petra Nagy, János Papp, Kornél Vince Grolmusz, Anikó Bozsik, Tímea Pócza, Attila Patócs, Henriett Butz","doi":"","DOIUrl":"","url":null,"abstract":"Aim: Our study assessed the prevalence of CHEK2 gene variants, including low-penetrance variants (lp-CHEK2: p.I157T, p.S428F, p.T476M) and their association with clinicopathological parameters in cancer patients and controls.Methods: Germline genetic analysis of 1,280 breast and ovarian cancer (BOC), 191 young breast (<33 years, yBr), 568 nonbreast (non-BOC) and 96 endocrine cancer patients was performed using the Illumina TruSight Hereditary Cancer Panel.Results: CHEK2 disease-causing (pathogenic/likely pathogenic) variants were more frequent in the BOC and yBr groups (2 and 2.6%) compared to non-BOC and endocrine tumour patients (0.5% and 0%, p=0.049). Lp-CHEK2 variants were detected in 4% of all groups and associated with other disease-causing genetic abnormalities more often than pathogenic/likely pathogenic CHEK2 variants (16% vs. 1%, p<0.0001).Conclusions: Despite their frequent occurrence, lp-CHEK2 variants confer a negligible risk of breast cancer and show no association with other tumour types. Disease-causing CHEK2 variants, however, have implications for the clinical management of breast cancer patients according to current guidelines.","PeriodicalId":94127,"journal":{"name":"Magyar onkologia","volume":"69 1","pages":"35-41"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675132","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