Dysregulation of the immune system undoubtedly plays an important and, perhaps, determining role in the COVID-19 pathogenesis. While the main treatment of the COVID-19 intoxication is focused on neutralizing the excessive inflammatory response, it is worth considering an equally significant problem of the immunosuppressive conditions including immuno-paralysis, which lead to the secondary infection. Therefore, choosing a treatment strategy for the immune-mediated complications of coronavirus infection, one has to pass between Scylla and Charybdis, so that, in the fight against the “cytokine storm,” it is vital not to miss the point of the immune silence that turns into immuno-paralysis.
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.
4 July 2020 in Russian Journal of Pediatric Hematology and Oncology
Inflammatory myofibroblastic tumor (IMT) is a rare type of neoplasm with undetermined biological potential. IMT can occur in both childhood and adulthood. The standard of therapy is radical surgical treatment, but for patients with inoperable/recurrent or metastatic forms of IMT, therapeutic options are very limited. This literature review describes specific clinical, morphological and biological characteristics of this neoplasm, provides modern approaches to the diagnosis and treatment of IMT.
4 July 2020 in Russian Journal of Pediatric Hematology and Oncology
Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for different spectrum of diseases. This type of treatment is constantly improving, but HSCT remains a risky procedure with various possible complications, the main is – chronic “graft versus host” disease (cGVHD). сGVHD is immune disregulation, and characterized by a variety of clinical manifestations that reflect the multiple underlying pathophysiology mechanisms. The study of cGVHD has now made great progress, but there’s still a lot of questions. General characteristics, risk-factors of development, clinical manifestations, pathogenesis of cGVHD will be discussed in this article. Clinical case presented in this article explains usage of basic and novel agents for cGVHD treatment, prevention criterions for treatment of cGVHD in children.
30 April 2022 in Russian Journal of Pediatric Hematology and Oncology
PIK3CA-Related Overgrowth Spectrum (PROS) refers to rare syndromes, which are characterized by malformations and excessive tissue growth and caused by somatic mutations in the PIK3CA gene occurring during embryogenesis. This article discusses the pathogenesis, clinical picture, diagnosis and treatment of these syndromes.Some of the illustrations used in this article are copied from other resources, the rights of the authors are respected and not violated. The appropriate permissions from the journals have been obtained.
12 August 2019 in Pediatria. Journal named after G.N. Speransky
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