Е.в. Жуковская

Cancer predisposition syndromes (CPSs) account for 8.5–18% of all childhood cancer cases. Most of them are inherited in an autosomal dominant pattern; consequently, there is a 50% risk of transmission to offspring. Early detection of CPSs is crucial for choosing patient treatment strategies and for counseling in the family. This study enrolled 886 pediatric patients with hematologic and solid neoplasms from prospective and retrospective cohorts (2018–2025). Clinical exome or multigene panel sequencing was used to analyze blood DNA. Overall, 186 pathogenic/likely pathogenic (PLP) variants in cancer-associated genes were identified in 176/886 (20%) of patients, and the most frequently mutated were the NF1 (n = 35) and TP53 (n = 18) genes. Among the 186 PLP variants, 126/886 (14.2%) were causative for pediatric neoplasms, while 56/886 (6.3%) were heterozygous mutations associated with adult-onset CPSs affecting DNA repair. The highest total mutation rate was revealed in retinoblastoma (80%), peripheral nerve sheath tumors (60%), and pheochromocytoma/paraganglioma (47%), while the lowest rate was found in hematologic malignancies (4.6%) and neuroblastoma (12%). The wide range and high frequency of deleterious variants in pediatric patients, especially in those with solid tumors, highlights the importance of multigene panel sequencing for the accurate determination of CPSs.

Wilms tumor (WT), the most common kidney neoplasm in children, is closely associated with hereditary factors. This study included 134 WT patients (62 males, median age of 7 years, age at diagnosis of 24.9 months) with unilateral (n = 90, 67%) or bilateral WT (n = 44, 33%). Genetic testing was performed using targeted sequencing of 415 genes and multiplex ligation–dependent probe amplification (MLPA). Twenty-five mutations in eight genes were found in 17% (n = 23) of patients: WT1 (n = 10), TRIM28 (n = 4), REST (n = 3), CHEK2 (n = 3), BRCA2 (n = 2), NF1 (n = 1), RAD50 (n = 1), and CDC73 (n = 1). Large deletions of the 11p13 region were revealed in 6% (n = 5) of patients. The 11p15 locus methylation was studied in blood, tumor, and healthy kidney tissue of nine patients suspected of Beckwith–Wiedemann syndrome (BWS) using methylation-sensitive MLPA (MS–MLPA). BWS was diagnosed in 3% (n = 4) of cases (one patient had mosaic disease). Thus, genetic and epigenetic aberrations were identified in 32 WT patients (24%). These patients had a higher frequency of bilateral WT and a higher rate of abnormalities compared to patients without aberrations (56% vs. 25%, p = 0.002; and 86% vs. 25%, p < 0.0001, respectively). The detection of WT hereditary predisposing factors is crucial for treatment strategies and long-term patient surveillance.

For modern treatment schemes for bone sarcomas (BS), overall survival of children and adolescents is 60–70 %. This treatment can be accompanied by disruption of intraosseous metabolism which leads to decreased bone mineral density (BMD). Clinical equivalents of decreased BMD are osteoporosis/osteopenia which are reported in 45 % of patients cured of various malignant neoplasms. Children and adolescents with BS have higher incidence of osteoporosis (43–65 % of cases) compared to patients with other types of malignant tumors. Aim. To determine the rate of BMD abnormalities and risk factors of osteoporosis in children and adolescents who completed BS therapy. Results of scientific articles published in the eLIBRARY, PubMed, Scopus databases, as well as on the Research Gate, Google Scholar platforms were analyzed. In patients with BS, the following main etiologic and pathogenetic mechanisms of BMD decrease were identified: tumor process extent, mutilating surgical interventions, implantation of various implants, limitation of mobility, administration of cytostatic drugs, high-dose radiotherapy, genetic predisposition. BMD abnormalities and bone fractures develop even in unaffected by the tumor parts of the skeleton. Considering high risk of osteoporosis in patients with BS, it is important to start diagnostic process and correction of this complication as soon as possible after the start of antitumor therapy, as well as monitor BMD even in patients in long-term remission.

Introduction. The limited selectivity of antitumor agents is the reason behind toxicity developing as a result of chemotherapy, radiation therapy and other treatment modalities for malignant neoplasms. Hematological toxicity in patients with various types of malignant neoplasms manifests as a change in the bone marrow (BM) structure with an increase in fat in the setting of inflammatory cascade activation with the elevation of pro-inflammatory cytokines such as interleukins 2 and 6, tumor necrosis factor and others. The non-invasive quantitative BM assessment by magnetic resonance imaging (MRI) performed in the patient of interest described below allows us to move to a new level of verification of the fundamental principles of hematological toxicity. Clinical case. Here, we discuss the results of BM fat assessment in the clinical case of a 12-year-old patient who underwent rehabilitation therapy after completing treatment for pleuropulmonary blastoma of the right lung. Quantitative MRI revealed a heterogeneous fat compartment in the bones, with maximum values registered at the tumor site and in the irradiated area: in the Th4 vertebral body – 57%, in the Th5 body – 76%, Th6 – 75%, Th7 – 70%. Conclusion. The use of quantitative BM assessment in children will make it possible to develop personalized approaches to radiation therapy as well as to monitor BM reconstitution processes following the end of cancer treatment. Future research also needs to more thoroughly examine the involved pathogenetic mechanisms and the BM lipodystrophy phenomenon in cancer patients.

Relevance. As medical research develops, more and more attention is being paid to the study of elemental changes in cancer patients not only as a marker of the disease, but also as a possible complication of the disease. The aim was to study changes in the level of essential and toxic trace elements in patients who have undergone antitumor therapy (AT) for malignant neoplasms (MN). Materials and Methods. As part of a retrospective monocenter study, a group of 214 patients from the Russian Field Medical and Rehabilitation Research Center aged 4 to 17 years was formed. All patients were in remission after the completion of antitumor treatment: 107 patients with hemoblastosis and 107 with solid tumors. The age of the participants ranged from 4.2 to 17.6 years, with an average age of 11.4 years. For a comprehensive assessment of the elemental status in children, hair and blood serum were used, measurements were carried out by mass spectrometry after mineralization of the samples. Results and Discussion. The results of the study of hair samples and blood serum showed that the elemental profile of patients after AT has both similar patterns and distinctive features depending on the histological type of tumor. Conclusions. Patients with solid tumors had a higher accumulation of toxic metals compared to samples taken from patients with tumors of the hematopoiesis organs. Nevertheless, no serious specific changes in elemental homeostasis were observed depending on the histological structure. The results obtained emphasize the importance of careful monitoring of homeostasis parameters to prevent the development of complications of antitumor therapy associated with elemental homeostasis.

Цель исследования. Обзор данных о перспективах ароматерапии на современном этапе развития медицинской науки, применения эфирных масел у детей и подростков. Материалы и методы. Исследования, посвященные ароматерапии, представлены в основных базах: Еlibrary, PubMed, Scopus, Google Scholar. Результаты исследования и обсуждение. В статье авторы обсуждают данные о механизмах действия эфирных масел в качестве противомикробных, анальгетических, анксиолитических и противовоспалительных средств. Терапевтические эффекты эфирных масел обеспечивают их широкое применение у взрослых пациентов и детей с раннего возраста. Заключение. Применяя в качестве лечебного средства эфирных масел важно следовать канонам медицинской практике об обоснованности предлагаемого терапевтического подхода и безопасности его применения. The purpose of this review. A review of data on the prospects of aromatherapy at the current stage of development of medical science, the use of essential oils in children and adolescents. Materials and methods. Research on aromatherapy is presented in the main databases: eLibrary, PubMed, Scopus, Google Scholar. Research results and discussion. In their works, the authors discuss data onthe mechanisms of action of essential oils as antimicrobial, analgesic, anxiolytic and anti-inflammatory agents. The therapeutic effects of essential oils ensure their widespread use in adult patients and children from an early age. Conclusion. When using of essential oils as a therapeutic agent, it is important to follow the canonsof medical practice aboutthe validity of the proposed therapeutic approach and the safetyof its use.

Introduction. The number of children and adolescents cured of malignant neoplasms (MN) is growing worldwide. An important task of modern pediatric oncology is to maintain quality of life (QOL) after the end of intensive antitumor therapy.The aim of the study was to study the QOL of patients with MN of the kidneys at the stages of rehabilitation.Results and discussion. Patients and parents filled out the relevant forms of the PedsQuality of Life Inventory Generic Core Scales (PedsQL) general quality of Life assessment questionnaire. A comparative analysis of the patientsʼ QOL was performed depending on the age of the patients at the time of the disease, the duration of remission, and the type of renal insufficiency.Conclusions. The QOL assessment technique confirms the effectiveness of rehabilitation technologies in patients with renal insufficiency; after rehabilitation treatment, regardless of the type of tumor, an increase in QOL parameters is noted. The QOL estimates made by parents of patients with Wilms tumor (WT) are lower than those in pediatric forms of PedsQL, regardless of the volume of the tumor lesion and the age of the patients. The lowest QOL is observed in WT patients in the first 3 years after the end of antitumor therapy, which should motivate specialists and parents to start rehabilitation as early as possible. On 10–12 years of follow-up, QOL indicators decrease, probably due to the cumulative effect of other medical and social risk factors, preventing the achievement of the population level of QOL.

В мире растет численность пациентов раннего возраста с различными злокачественными новообразованиями. Актуальность развития реабилитационных/абилитационных программ пациентов после завершения противоопухолевой терапии поддерживается высокой выживаемостью пациентов. Цель исследования. Проанализировать опыт реабилитации/абилитации пациентов раннего возраста, завершивших противоопухолевую терапию. Материалы и методы. Ретроспективное моноцентровое исследование выполнено в лечебно-реабилитационном научном центре «Русское поле» Национального медицинского исследовательского центра детской гематологии, онкологии и иммунологии имени Дмитрия Рогачева в 2021-2022 гг. Результаты. У 10-80% пациентов имаются проявления поздней лекарственной токсичности, задержка речевого и психомоторного развития. Заключение. Эффективность реабилитации/абилитации у пациентов раннего возраста базируется на индивидуализации терапевтического подхода, использовании физиологических закономерностей детского организма, высокой пластичности тканей и органов, способности к регенерации. Relevance. The number of young patients with various malignant neoplasms is growing worldwide. The relevance of developing rehabilitation/habilitation programs for patients after completion of antitumor therapy is supported by high patient survival. Objective of the study. To analyze the experience of rehabilitation/habilitation of young patients who have completed antitumor therapy. Materials and methods. A retrospective monocentric study was performed at the Russkoye Pole Medical and Rehabilitation Research Center of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology in 2021-2022. Results. 10-80% of patients have manifestations of late drug toxicity, delayed speech and psychomotor development. Conclusion. The effectiveness of rehabilitation/habilitation in such patients is based on the individualization of the therapeutic approach, the use of physiological patterns of the child's body, high plasticity of tissues and organs, and the ability to regenerate.

Relevance. The limited selectivity of antitumor therapy for central nervous system neoplasms entails the risk of dental morbidity in patients.The aim of the study is to assess the severity of damage to the dental hard tissues in patients with tumors of the posterior cranial fossa (medulloblastoma, astrocytoma) and other tumors of the central nervous system.Materials and methods. Three comparison groups were established based on the toxicity profiles of antitumor therapy among 251 patients at the "Russian Field" treatment and rehabilitation scientific center, to assess the characteristics of oral health status. The assessment of oral health status included diagnosing the carious process and calculating the DMFT index. The degree of damage to the dental hard tissues was evaluated on a four-point scale. The clinical manifestations of oral cavity pathology were compared using the Z-criterion for multiple pairwise comparisons of data, with adjustments for multiple testing (Multiple pairwise comparison Z-test for proportions with multiple testing correction) using the free R software version 3.5.2. The null hypothesis of equal indicators in the compared groups was rejected with a 95% confidence probability when comparing groups of patients.Results. Dental hard tissue pathology was significantly more prevalent in patients with medulloblastoma compared to those diagnosed with astrocytomas and other central nervous system tumors. Additionally, the prevalence of dental hard tissue pathology progressively decreased as the observation period following the completion of antitumor remission was extended.Conclusion. The most severe damage to dental hard tissues is observed in patients with medulloblastoma, who undergo more intensive antitumor therapy compared to those with CNS tumors of other histological types.

The COVID-19 coronavirus pandemic is affecting the somatic and mental health of populations across the planet. Patients with cancer form a risk group with severe complications of COVID-19. The objective of the study was to examine the quality of life of children and adolescents after completion of antitumor therapy in a pandemic setting. Materials and methods. Specialists from of the clinical and rehabilitation scientific center “Russkoye pole” of the Dmitri Rogachev National Medical Research Center for Pediatric Hematology, Oncology and Immunology conducted a comparative analysis of the results of testing patients and their parents according to the PedsQL™4.0 questionnaires. Results. Patients hospitalized in 2021 have lower physical functioning parameters (63.62) than patients hospitalized before the pandemic in the first half of 2019 (70.89), p < 0.001. Parents reported significantly more positive attitudes towards quality of life assessments during the pandemic compared to those made by children. Conclusion. Differences in quality of life scores between patients in remission of oncohematological diseases before the pandemic and in the pandemic setting based on both children's and parents' assessments have been identified, which may be due to the impact of the novel coronavirus pandemic on some aspects of child and adolescent functioning. Key words: quality of life, oncohematological diseases, COVID-19 coronavirus pandemic, children