Russian Journal of Pediatric Hematology and Oncology最新文献

{"title":"Pilot clinical trial of DNA vaccination against neuroblastoma: study design and preliminary results","authors":"I. Proleskovskaya, A. Meleshko, E. Vashkevich, N. E. Konoplya","doi":"10.21682/2311-1267-2023-10-4-11-34-43","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-4-11-34-43","url":null,"abstract":"Introduction. We report preliminary results of a pilot clinical trial of therapeutic DNA vaccination of patients with neuroblastoma (NCT04049864).The aim of the study – is to test the safety and immunogenicity of DNA vaccination against neuroblastoma.Materials and methods. The results of 6 patients who completed vaccination are summarized in the article. Inclusion and exclusion criteria for patients are defined. The clinical protocol included vaccine form and doses, timed vaccination regimen, and concomitant therapy. Minimal residual disease was analyzed for all patients by quantitative polymerase chain reaction, measurement of T-cell immune response by ELISpot and antisense response by ELISA.Results. The vaccine was well tolerated by patients with minimal adverse symptoms. T-cell immune response was evaluated two weeks after each course of vaccination and was positive in 5 of 6 patients. An antisense immune response was detected in 1 patient. 5 out of 6 patients are alive and in clinical remission as of 11/01/2022. Event-free survival of vaccinated patients was 82 ± 18 % vs 29 ± 11 % of controls (p = 0.03).","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"3 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139616583","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}

{"title":"Molecular biology techniques for assessing the loss of HLA heterozygosity after allogeneic hematopoietic stem cell transplantation in children with acute leukemia","authors":"I. Barkhatov, L. A. Tsvetkova, A. V. Evdokimov, N. E. Ivanova, O. Epifanovskaya, Yu. G. Semenko, B. I. Smirnov, A. D. Kulagin, L. S. Zubarovskaya","doi":"10.21682/2311-1267-2023-10-4-25-33","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-4-25-33","url":null,"abstract":"According to several observations, up to a third of post-transplant relapses in childhood acute leukemia are associated with the loss of heterozygosity of the major histocompatibility complex (HLA). Furthermore, the inefficacy of the graft-versus-leukemia reaction, as evidenced by the lack of therapeutic effect from the infusion of donor lymphocytes, indicates the need for timely detection of this marker to change the treatment strategy in the post-transplant period. To detect the loss of HLA heterozygosity, the method using the commercial KMR-HLA system and analysis using next-generation sequencing (NGS), as well as the method based on the analysis of highly polymorphic STR and VNTR markers located in the HLA loci region on the short arm of chromosome 6, are widely used. The primary objective of our study was to compare the informativeness of these approaches in diagnosing HLA heterozygosity loss in children during the post-transplant period. The obtained data on the frequency of detecting HLA heterozygosity loss were comparable to the literature data and constituted 23 % of cases of post-transplant relapse of B-cell acute lymphoblastic leukemia, 33 % of cases of T-cell acute lymphoblastic leukemia, and 23% of cases of acute myeloid leukemia. We also demonstrated that the method based on STR marker analysis has sensitivity comparable to allele-specific PCR and NGS sequencing methods. Meanwhile, preliminary sorting of the blast population increases the sensitivity of STR analysis and can be recommended in routine practice.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":" August","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139617862","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}

{"title":"Complications after pylori-preserving pancreatoduodenal resection in a 14-year-old girl with a solid pseudopapillary tumor of the pancreas","authors":"Y. Y. Sokolov, D. P. Ananyev, A. Efremenkov, E. Solodinina, O. Melekhina, A. P. Zykin, R. A. Akhmatov","doi":"10.21682/2311-1267-2023-10-4-61-68","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-4-61-68","url":null,"abstract":"Pancreatoduodenal resection (PDR) is one of the most difficult surgical interventions in abdominal surgery of childhood. We present our clinical observation of a postoperative complication in a 14-years-old girl.The girl was operated on for a solid pseudopapillary tumor of the head of the pancreas, laparoscopically assisted pylori-preserving PDR was performed, mobilization and removal of the tumor was performed, distally between the stump of the pancreas and the Roux-en-Y loop of pancreatoejunoanastomo was formed. Mechanical jaundice occurred in the late postoperative period. Percutaneous transhepatic cholangiostomy, recanalization of hepaticoejunoanastomosis with the formation of external-internal transhepatic drainage was performed. 5 courses of balloon dilation of the stricture of the biliodigestive anastomosis were performed later.We demonstrate some complications of PDR in children and show possible options for their correction.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":" January","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139617899","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}

{"title":"Familial DICER1 syndrome with thyroid pathology. A series of clinical cases","authors":"N. V. Ivanova, E. Zelenova, V. Polyakov, A. Y. Lozovaya, V. V. Semenova, V. M. Kozlova, V. A. Korolev, T. Ushakova, T. R. Panferova, N. A. Kozlov, A. S. Bidulya, S. Mikhailova, M. Rubanskaya, S. Varfolomeeva","doi":"10.21682/2311-1267-2023-10-4-49-60","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-4-49-60","url":null,"abstract":"Thyroid diseases in childhood occupy the second place after obesity in the structure of the general pathology of the endocrine system, eating disorders and metabolic disorders in children in the Russian Federation. Thyroid cancer in children makes up from 1.5 to 3 % of all malignant tumors, and from 8 to 22 % of malignant solid tumors of the head and neck, and the younger the child’s age, the more aggressive the disease proceeds.Familial forms of thyroid diseases may be associated with geographical features (living in iodine-deficient regions), but may also be part of hereditary syndromes, such as: multiple endocrine neoplasia syndromes (Sipple syndrome, Gorner syndrome, familial medullary thyroid cancer), DICER1 syndrome, Gardner syndrome, Cowden syndrome, McCune–Albright–Braitsev syndrome et al.This article describes several cases of thyroid pathology associated with DICER1 syndrome.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":" November","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139618121","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}

{"title":"The relevance of genetic testing in young patients with breast fibroadenomas","authors":"S. Mikhailova, V. V. Semenova, T. V. Nasedkina, T. T. Valiev, D. Khestanov, S. Varfolomeeva","doi":"10.21682/2311-1267-2023-10-4-44-48","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-4-44-48","url":null,"abstract":"Introduction. Fibroadenomas are the most common benign tumors of the mammary glands in children and adolescents. In some cases, they may be part of hereditary tumor predisposition syndromes associated with a high risk of developing malignant neoplasms throughout life, and therefore genetic testing is relevant.The purpose of the study is to discribe the spectrum of genetic mutations in cancer-associated genes according to the results of next generation sequencing (NGS) in young patients with breast fibroadenomas.Matherials and methods. Sixteen teenage girls with fibroadenomas of the breast who were followed up in Research Institute of Pediatric Oncology and Hematology from 2020 to 2023 were enrolled in this study. Genetic testing by NGS was performed.Results. Pathogenic variants in cancer-associated genes were found in 4 (25 %) patients. In two cases, fibroadenomas were a part of Cowden’s syndrome associated with PTEN inactivation; two patients carried pathogenic variants in the BRCA1 and BRCA2 genes.Conclusion. Genetic testing of young patients with breast fibroadenomas is important to optimize the management strategy in order to reduce cancer risk in high-risk groups of patients.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":" 1014","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139617377","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}

{"title":"The use of BRAF-inhibitors as monotherapy and in combination with cytosine arabinoside and 2-chloro-2’deoxyadenosine in pediatric patients with different forms of Langerhans cell histiocytosis","authors":"E. A. Burtsev, D. Evseev, I. R. Gaziev, L. L. Lebedeva, D. Skobeev, D. Osipova, G. Bronin, M. Maschan","doi":"10.21682/2311-1267-2023-10-4-13-24","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-4-13-24","url":null,"abstract":"Background. Langerhans cell histiocytosis (LCH) is a rare disease that occurs due to abnormal proliferation and expansion of myeloid precursors. The occurrence of mutations in genes that encode key kinases of MAPK-signaling pathway leads to its pathological activation and has been shown the cause of disease. Mutations in BRAF and MAP2K1 genes are the most frequent among LCH patients. The effectiveness of BRAF-inhibitors in LCH patients has been shown in numerous studies.The purpose of the study – analyze the experience of BRAF-inhibitor vemurafenib administration as monotherapy and in combination with cytosine arabinoside (ARA-C) and 2-chloro-2'-deoxyadenosine (2-CdA) in pediatric patients with different forms of LCH.Materials and methods. Fifteen patients with various forms of LCH were enrolled in the study. BRAF mutations were detected in 14 patients, mutation in the MAP2K1 gene was detected in one case. Patients with “risk organ” (RO) involvement were included in the first group (n = 9). These patients received combined therapy with vemurafenib and ARA-C/2-CdA. Patients without RO involvement, included in group 2 (n = 6), received vemurafenib as monotherapy. The assessment of the response to the therapy in group 1 was carried out in accordance with the DAS scale, in group 2 in accordance with the RECIST v1.1. The toxicity assessment in both groups was carried out in accordance with the CTCAE v5.0.Results. All patients in group 1 achieved non-active disease status with a median of 35 (28–61) days. In group 2 partial response to vemurafenib was achieved in 5 cases. Relapse after targeted therapy termination was diagnosed in two patients. Photodermatitis was the most common side effect of targeted therapy.Conclusions. The use of vemurafenib was effective in both groups. There were no cases of grade III–IV toxicity according to CTCAE v5.0 associated with vemurafenib administration in this study. The combination of vemurafenib and ARA-C/2-CdA showed high efficacy and good tolerability in group 1. Two cases of disease relapse after targeted therapy cessation in group 2 show that the monotherapy approach does not always allow to achieve long-term remission in LCH patients.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":" 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139618641","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}

{"title":"Resolution of the Council of Experts “Evolution of views on immunotherapy for high-risk neuroblastoma”","authors":"A. Editorial","doi":"10.21682/2311-1267-2023-10-4-69-71","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-4-69-71","url":null,"abstract":"<jats:p>.</jats:p>","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"2 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139618181","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}

{"title":"IV Joint Congress of RSPOH “Actual problems and prospects for the development of pediatric oncology and hematology in the Russian Federation – 2023”. Resolution on the results of the satellite symposium “Tepadina in oncohematology: forgotten opportunities and new horizons”","authors":"A. Editorial","doi":"10.21682/2311-1267-2023-10-4-72-75","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-4-72-75","url":null,"abstract":"<jats:p>.</jats:p>","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":" 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139618784","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}

{"title":"Formation of a healthy lifestyle as a tool to reduce the risk of developing chronic non-communicable diseases","authors":"F. N. Kostin","doi":"10.21682/2311-1267-2023-10-3-48-54","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-48-54","url":null,"abstract":"Relevance. The formation of a healthy lifestyle is an important task facing not only the healthcare system, but also the state as a whole. Therefore, monitoring of risk factors and the attitude of the population to a healthy lifestyle is necessary for strategic decisions.The purpose of the study – assessment of the awareness of the population of Moscow about the importance of maintaining a healthy lifestyle for the prevention of the development of chronic non-communicable diseases.Materials and methods. A survey of 100 people (50 men and 50 women) aged 20 to 60 years was conducted. The attitude of the population to a healthy lifestyle, alcohol and tobacco use, the frequency of sports, resistance to stressful situations, as well as to periodic medical examinations were evaluated.Results. The data of the survey, as well as the growing incidence, confirm the irresponsible attitude of the population to their health, as well as the identification of risk factors for the development of chronic non-communicable diseases in a large number of patients.Conclusions. To form a unified preventive environment, it is necessary to improve the quality of the environment, working conditions, the availability of food of proper quality, income levels, housing conditions, as well as to develop urban infrastructure. It is also important to understand that in addition to the participation of all branches of the state in the formation of preventive medicine, it is necessary to instill in the population the need to take care of their own health independently. Rational nutrition, physical activity (walking, running, sports), restriction of alcohol and tobacco use, create a healthy behavior model and, as a result, reduce the risk of developing non-communicable diseases.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"29 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139198519","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}

{"title":"Primary Ewing’s sarcoma of the kidney: description of two rare clinical cases and review of world literature","authors":"O. M. Romantsova, V. Y. Panarina, M. A. Bolokhonova, V. V. Khairullova, D. Khestanov, M. M. Efimova, T. R. Panferova, O. A. Ignatenko, N. A. Kozlov, A. Stroganova, K. Kirgizov, S. Varfolomeeva","doi":"10.21682/2311-1267-2023-10-3-70-81","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-70-81","url":null,"abstract":"Ewing’s sarcoma (ES) of the kidney is an extremely rare malignant tumor characterized by an aggressive course, and therefore the disease has an unfavorable prognosis. Due to the rare occurrence, standards for the treatment of ES of the kidney have not been developed; an integrated approach is often used in therapy. In this article, we present a description of two clinical cases of kidney damage with ES in patients aged 10 and 16 who were treated at the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov at N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia. In the first case, there was a metastatic lesion of the kidney with the localization of the primary focus in the pelvic bones, in the second, primary ES of the kidney was diagnosed. Both patients had stage IVb at the time of diagnosis (TNM classification American Joint Commission on Cancer). In both patients, after induction chemotherapy, a complete therapeutic response (complete therapeutic pathomorphosis) was obtained. In an integrated approach, in addition to standard chemotherapy, surgery and radiation therapy, in both cases, high-dose chemotherapy with autologous peripheral stem cell transplantation was used, which made it possible to create favorable conditions for long-term remission in one of the patients, even despite the initial prevalence of the process.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"167 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139200098","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}