Vol 17, No 3 (2018)

SHH group of medulloblastoma is a heterogeneous tumor cohort. The neoplasms differ by biological characteristics as well as clinical features and prognosis of the disease. Purpose of the study is the analysis of clinical, molecular and genetic features for prognosis defining in patients with SHH group medulloblastoma. 28 patients with SHH group medulloblastomas were included in the study. The MB molecular group verification was performed in parallel by Nanostring gene expression profiling and immunohistochemical assessment of tumor samples. The detection of TP53 gene mutations was carried out with Sanger sequencing. The prognostic impact of the clinical, molecular and genetic factors of the disease was analyzed by calculating 5-years event-free survival (EFS). The median of follow up time achieved 38.9 months. All patients harboring the TP53 mutation (n = 3) had dismal outcome (two patients died from the progression of the disease, one patient has secondary tumor). Children from older age group (> 3 years) had more adverse events comparing to younger children (< 3 years): EFS 49.2 ± 31.3% vs. 78.8 ± 13.9%. The relapse of the disease occurred in 7 patients (25%). Notably, that in younger children the second line treatment was effective. The presence of TP53 mutations as well as age above 3 years are associated with poor prognosis in SHH group medulloblastomas. The novel molecular and genetics markers are needed for precise prognosis defining.

We have analyzed the association between the most common extracranial solid tumor of childhood neuroblastoma (NB) and congenital heart disease (CHD) based on our own data and literature review. The analyses was carried out based on medical history and  echocardiography data of NB patients, who received medical treatment in Dmitriy Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology. 11 out of 457 patients with NB had CHD, the most common diagnosis was ventricular septal defect. The epidemiologic data of the cohort of patients with CHD and NB was presented. The article contains detailed description of two patients with CHD and localized and metastatic NB. The comprehensive analysis of the existing literature was done. In conclusion, CHD was observed in 2,4% cases. All patients with NB are required cardiologic assessment including echocardiography.

Interstitial lymphocytic lung disease (ILLD) is an immune complication of genetically determined primary immunodeficienciencies (PID), resulting from pathological hyperplasia of bronchus–associated lymphoid tissue (BALT) due to the dysregulation of immune system, with progressive loss of pulmonary function. Standard immunosuppressive therapy is not effective in ILLD. Here we describe results of prospective study of efficacy and safety of abatacept and rituximab treatment in a group of 26 children with different forms of PID (median of age 12,1years). Therapeutic drug was chosen based on patterns of lymphocytic lung infiltration - with predominantly T- or B–cell content. We demonstrate, that targeted therapy with abatacept and rituximab not only allows to achieve remission of clinical and radiological ILLD’s symptoms in both groups, but also significant improvements quality of life of patients (57 ± 2.1 vs 31.2 ± 1.9 points; p < 0,01). 

A rare case of syringoma (benign tumor of apocrine sweat glands) – plural plaque form located on scrotum in 14-aged boy is presented. In the treatment low temperature atmospheric plasma was used. The effectiveness of therapy (the absence of cicatricial changes at the site of treatment, as well as the recurrence of the disease) are shown.

The inflammatory myofibroblastic tumor (IMT) is an extremely rare type of liver tumors in young children. This article presents a clinical case of the development of IMT of the liver in 11-month-old child with the detected chimeric TPM3ex6 / ALKex20 transcript. State-of-the-art data on the clinical presentation of IMT, histological and molecular genetic characteristics of the tumor, differential diagnosis of hepatic masses depending on the level of alpha-fetoprotein, the principles of treatment of IMT, based on a review of the scientific literature, including data on the effectiveness of ALK inhibitors are described.

Atypical teratoid-rhabdoid tumor (AT/RT) is a rare and aggressive malignant tumor of central nervous system (CNS), comprises approximetaly 1–2% of all pediatric brain tumors. Genetic feature of AT/RT are inactivating mutations in the DNA sequence of genes encoding the core elements of the chromatin remodeling complex SWI/SNF. The vast majority of rhabdoid tumors present with a loss of function in the SMARCB1 gene, which localizes on the long arm of 22 chromosomes (22q11.23). When the germ-line mutation occurs in the SMARCB1 gene, the syndrome is called RTPS1, and when the mutation occurs in the SMARCA4 gene it is called RTPS2. The standards of therapy for patients with AT/RT are not currently defined and the survival remains very low, but, after the introduction of modern multimodal therapy protocols, have slightly improved in the last years. The article presents an overview of existing methods for the diagnosis and treatment of AT/RT, as well as new approaches to the investigation of the molecular genetic causes of the clinical heterogeneity of this tumor.

This review provides information on total body irradiation (TBI), including the history of the development of the method, a brief description of the classical dose delivery methods, and the main difficulties of it's using. Recent years, TBI based on IMRT (Intensity Modulated Radiation Therapy) has been increasingly used. It is assumed that the toxicity of therapy decreases without an increasing of relapse probability. Using IMRT for TBI also allows to unify dose distribution within patients and, most importantly, provides us clear quantitative criteria necessary for assessing the clinical efficiency and toxicity of different regimens of therapy. Some radiobiological issues of TBI concerning the dose rate, skin irradiation necessity and the uniformity of circulating blood irradiation are also discussed.