Midline Low-Grade Gliomas of Early Childhood: Focus on Targeted Therapies.

Purpose: Midline low-grade gliomas (mLGGs) of early childhood have a poorer prognosis compared with tumors of other localizations and in older patients. LGGs are associated with aberrant activation of RAS-RAF-MEK pathway, and pharmacological inhibition of the pathway has therapeutic promise. The aim of this study was clinical and molecular characterization of infantile mLGGs, with emphasis on the efficacy of targeted kinase inhibition.

Molecular heterogeneity of pediatric choroid plexus carcinomas determines the distinctions in clinical course and prognosis.

Background: Choroid plexus carcinomas (CPCs) are rare aggressive pediatric tumors of the brain with no treatment standards. Genetic profiling of CPCs is often confined to possible association with Li-Fraumeni syndrome, though only about a half of CPCs develop from syndromic predispositions. Whole-chromosome gains and losses typical of CPCs reflect genomic instability of these tumors, but only partially explain the aggressive clinical course.

Methodological Challenges of Digital PCR Detection of the Histone K27M Somatic Variant in Cerebrospinal Fluid.

Cell-free DNA (cfDNA) in body fluids is invaluable for cancer diagnostics. Despite the impressive potential of liquid biopsies for the diagnostics of central nervous system (CNS) tumors, a number of challenges prevent introducing this approach into routine laboratory practice. In this study, we adopt a protocol for sensitive detection of the K27M somatic variant in cerebrospinal fluid (CSF) by using digital polymerase chain reaction (dPCR).

Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment.

Ependymomas are among the most enigmatic tumors of the central nervous system, posing enormous challenges for pathologists and clinicians. Despite the efforts made, the treatment options are still limited to surgical resection and radiation therapy, while none of conventional chemotherapies is beneficial. While being histologically similar, ependymomas show considerable clinical and molecular diversity.

[The use of long acting antipsychotics in outpatient care].

Objective: To determine the frequency of administration, efficacy and safety of long acting antipsychotics in day-to-day psychiatric practice in outpatient clinics.

Material And Methods: The study included 90 patients with schizophrenia treated with haloperidol decanoate (=18), rispolept consta (=19), clopixol depot (=25), paliperidone palmitate (=25). Symptoms of schizophrenia were assessed with PANSS during 12 months.

[Design and verification of the reagent kit for high-productive HLA-typing of potential donors of hemopoietic stem cells.].

The work describes the development of a reagent kit for high-performance HLA-typing using the Illumina MiSeq System platform. The developed reagent kit contains all the necessary components for target enrichment of five HLA genes, preparation of libraries, and software for automatic data analysis. The reagent kit verified on a 93 DNA samples with known genotypes.

Description of four new HLA alleles: HLA-A*01:288, -A*02:06:23, -A*32:121 and -DRB1*07:100.

Four novel alleles were identified by sequence based typing and next generation sequencing technology.

Identification of a novel, CF-causing compound genotype (p.S1159P and p.Y569H) using an NGS-based assay: Novel CF-causing compound p.S1159P and p.Y569H genotype.

A novel combination of two rare pathogenic cystic fibrosis-causing mutations, p.S1159P and p.Y569H, was detected in a patient of 17 years age who suffered from pancreatic insufficiency of unknown etiology.