Familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML) is a rare autosomal dominant disorder caused by inherited mutation of RUNX1. To date only 35 families have been described. We report on a family in which number and function of platelet were impaired in members of 4 generations. Acute myeloid leukemia developed in 3 members of 2 generations. The age of leukemia development was 11, 19 и 76 years. In all 5 affected family members available for study novel heterozygous mutation in runt domain of RUNX1 (c2018 A > C, pT147P) was detected by direct sequencing. This mutation is predicted to impair binding of CBF to core motif of DNA. Two affected patients died of leukemia; while in one complete remission was achieved with conventional and consolidated with allogeneic BMT from HLA-matched sister proved to be RUNX1 mutation negative.

The aim of the study was to analyze the main epidemiologic characteristics of lymphomas in children 0–14 years of age in Moscow Region (MR). The database of childhood population-based cancer registry of MR served as a data source. 136 cases of lymphomas were identified during 2000–2008 years. Hodgkin disease constitutes of 55.8 % of cases. Age-standardized incidence rate (ASR) of all types of lymphomas was 1.47 per 100,000 children. ASR of Hodgkin disease was 0.77 per 100,000 children; ASR of non-Hodgkin’s lymphomas was 0.70 per 100,000 children. Distinct epidemiologic features of Hodgkin disease in different gender's and age groups were shown. 5-year observed survival (OS) of all patients with lymphomas was 0.83 ± 0.03. 5-year OS of patients with Hodgkin disease and non-Hodgkin lymphomas was 0.86 ± 0.04 and 0.80 ± 0.05 respectively.

Treatment results of allogeneic hematopoietic stem cells transplantation (allo-HSCT) with myeloablative (MAC) and reduced intensity (RIC) conditioning regimen in children and adolescents with unfavorable forms of acute lymphoblastic leukemia (ALL) were shown. One hundred and two ALL patients aged 1 to 21 years (mean – 12 years) who received allo-HSCT from 2000 to 2010 (31 patients with RIC and 71 patients with MAC) are included in the study. Analysis of overall and event-free survival in both groups showed comparable efficacy. The use of RIC as alternative conditioning regimen in children and adolescents with high risk ALL and poor general condition, comorbidities and infectious complications are discussed.

Hematopoietic stem cells transplantation (HSCT) is currently widely used for solid tumors, leukemia and autoimmune diseases therapy. Complications in post-transplant period, as well as specific therapy of these complications lead to nutritional status changes, which worsen post-transplant period and influence of outcome. To analyze nutritional status and tissue composition characteristics and determine the value of bioimpedance methods for complex examination of nutritional status in children after HSCT are the goal of this study. Changes in nutritional status and tissue composition of 34 children during HSCT due to various malignant and non-malignant diseases were analyzed. Bioimpedance measurements and somatometry was used to assess tissue composition. Significant worsening of nutritional status, skeletal muscle mass loss with a relatively stable adipose tissue to day +100 has been shown. A significant decrease of active cell mass and phase angle in all study phases were revealed. A high correlation between body fat mass index and skin-fat folds size over the triceps (r = 0.86), as well as between skeletal muscle mass index and shoulder muscles circle size (r = 0.82) was revealed. It is concluded that in the early post-transplant period (up to 100 days) nutritional status significantly worsened and tissue imbalance developed with a relative predominance of fat component and somatic protein pool reduction. Importance of comprehensive evaluation and monitoring of nutritional status to develop a strategy for nutritional support in children after HSCT is discussed.

The aim of this study was to determine genetic features of the killer cell immunoglobulin-like receptors of donors from Republican Register
haematopoietic stem cells donors of the Russian Research Institute of Hematology and Transfusiology (St.-Petersburg). KIR is a recently discovered high polymorphic second immunogenetic system that interacts with class I human leukocyte antigen molecules and plays a crucial role in the control of natural killer cell cytolytic activity. Donor KIR genotype affects outcome of unrelated donor transplantation. The frequency of KIR genes and genotypes in donors of Northwest region of Russia shares several general features with other Caucasoid populations, with the exception of some B haplotype associated activating KIR genes (KIR2DS5). Significant differences were observed as compared to Asian populations. The frequency of the B haplotype associated inhibitory (KIR2DL2) and activating (KIR2DS2, KIR2DS3) genes were significantly higher as compared to the populations of Japan, China and South Korea.
The frequency of the «best» donor B content group, that improves clinical outcomes after unrelated donor transplantation, was higher in the population under the study as compared to other populations. These differences were significant as compared to Asian populations. The results of the present study can be used to selection of donors with the favorable KIR types in order to improve therapeutic effect of transplantation, as well as to optimize database of the Republican Register of hematopoietic stem cells donors.

Literature data of idiopathic myelofibrosis are presented: classification, diagnostic criteria, morphological and molecular features. Particular attention is given to therapy of various clinical forms of primary myelofibrosis.

An invasive aspergillosis (IA) is a common infectious complication in patients with hematological malignancies characterized by severe manifestation of clinical syndromes and high mortality. Timely diagnosis and immediate use of high effective antimycotic drugs are the basic principles of IA effective therapy are timely diagnosis and immediate use of high effective antimycotic drugs.