Magyar onkologia最新文献

Immunosurveillance is the ability of the immune system to detect preneoplastic lesions as well as primary tumors. Immunoediting, on the other hand, includes all tumor-immune interactions and can be subdivided into three steps according to the outcome. During elimination, which can correspond to immunosurveillance, the immune system is able to eradicate immunogenic preneoplastic lesions or tumors. During the second step, the so-called equilibrium, tumors start to leverage mechanisms for immune evasion, however their growth is still controlled by the immune system. The ability of cancers to master their immune evasion efforts leads to the third step, called escape, when tumors are no longer successfully controlled by anti-tumor immunity. Hereditary cancer predisposition syndromes elevate cancer risk in a gene- and organ-specific manner. Lately, new results were uncovered regarding carcinogenic steps and pre-cancer immunity in the case of Lynch syndrome and hereditary breast and ovarian cancer syndrome, the two most frequently diagnosed cancer perdisposition syndromes. Our current review aims to summarize these novel results.

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.

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.

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.

Aim: Our aim was to introduce self-screening for the risk of malnutrition in cancer patients using the PG-SGA questionnaire, and to compare the results of the new method with the abnormal values of the previously used BMI and MUST method.

Methods: We performed self-screening using the PGSGA questionnaire, MUST risk screening, and nutritional status classification based on BMI in parallel with 101 oncology patients.

Results: A high risk of malnutrition was diagnosed in 73 subjects (72%) using the PG-SGA method, 58 subjects (57%) using the MUST method, and 8 subjects (8%) using the BMI method.

Conclusions: The PG-SGA method can be easily implemented in the Hungarian practice, which effectively screens the risk of malnutrition in cancer patients. The sensitivity of the questionnaire is increased by the disease-specific questions, which ask about symptoms affecting nutrition and stress factors that determine metabolic demand. Early detection of malnutrition and the initiation of nutritional therapy in cancer are key factors in terms of improving quality of life and increasing survival.

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.

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.

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.

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.

The molecular pathological examination of solid tumors is essential not only for supporting histological diagnosis but also for detecting hereditary variations and predictive biomarkers. Analyzing predictive markers is fundamental to personalized cancer therapy, directly affecting patient care through pathological testing. These analyses employ both traditional immunohistochemical staining methods and molecular genetic techniques. In both approaches, preanalytics is of critical importance, necessitating the adoption of standardized and reproducible processes. Molecular diagnostics in colorectal cancer focuses on detecting activating mutations in the MAPK pathway (KRAS, NRAS, BRAF), as well as evaluating microsatellite instability and HER2 amplification. Immunohistochemical methods can effectively identify biomarkers for gastric cancers, including the novel claudin18.2. The responsiveness of gastrointestinal stromal tumors to imatinib requires validation via molecular testing. Patients diagnosed with pancreatic cancer may see enhanced survival rates by targeted therapy addressing microsatellite instability and BRCA mutations. In bile duct malignancies, especially intrahepatic cholangiocarcinoma of the small duct variant, the analysis of IDH1 mutations and FGFR2 fusions presents new treatment prospects.