MZ Liberec (Czechia)

Abstract BACKGROUND Astrocytoma, IDH-mutant, is the most common primary brain tumor in young adults, with peak incidence between 30 and 40 years of age. It is defined by mutations in the IDH1 or IDH2 genes and the absence of 1p/19q codeletion, and it frequently harbors alterations in ATRX and TP53. Rarely, astrocytoma, IDH-mutant, amay exhibit primitive neuronal differentiation, morphologically resembling “small round blue cell” tumors or large anaplastic embryonal-like cells. METHODS We analyzed 18 cases of astrocytoma, IDH-mutant, with primitive neuronal differentiation. In 11 cases where both the primitive neuronal and glial components were available, macrodissection was performed by a pathologist. Each component was subjected to separate genetic (next-generation sequencing) and epigenetic (DNA methylation profiling) analyses. Morphological and immunophenotypic features were also evaluated. RESULTS The primitive neuronal component was characterized by absent or markedly reduced GFAP expression, positivity for neuronal markers, a high Ki-67 proliferation index, and frequent TTF1 expression. This component also exhibited distinct epigenetic signatures and copy number alterations compared to the glial component. All tumors were high-grade, with extensive copy number variations, frequent MYCN amplification, and RB1 loss. DISCUSSION Astrocytoma, IDH-mutant, with a primitive neuronal component expands the morphological spectrum of IDH-mutant astrocytomas and presents a significant diagnostic challenge. Recognition of this rare subtype is critical due to its aggressive biological behavior. This work was supported by Masaryk University in Brno, Czech Republic, under Grant MUNI/A/1621/2024, the Ministry of Health, Czech Republic, grant project no. NU23-03-00100 and by the project National Institute for Cancer Research (Programme EXCELES, ID Project No. LX22NPO5102) - Funded by the European Union - Next Generation EU.

IntroductionCongenital immune system defects represent an ever-growing group of diseases characterized by increased susceptibility to infections and association with autoimmune, autoinflammatory, allergic and malignant complications. Here, we provide the first comprehensive report on inborn errors of immunity (IEIs) in Czechia based on the analysis of patient data from the Czech national registry (CzNR) of IEIs.Material and methodsThe online platform of CzNR of IEIs was established in 2012, compiling data about epidemiology, type of diagnosis, clinical and laboratory parameters, as well as the treatment of patients diagnosed with IEIs since 1981.ResultsThe total of 1,443 registered patients includes 697 males (48.3%) and 746 females (51.7%). The median age at diagnosis was 21.0 (0–86) years. The most represented group of patients was those with antibody deficiencies (788 patients; 54.6%). This was followed by complement deficiencies (242; 16.8%), combined immunodeficiencies with syndromic features (250; 17.3%), combined immunodeficiencies (55; 3.8%), congenital defects of phagocyte number, function, or both (31; 2.1%), autoinflammatory disorders (28; 1.9%), immune dysregulation diseases (24; 1.7%), intrinsic and innate immunity defects (21; 1.5%), primary immunodeficiency phenocopies (3; 0.2%), and bone marrow failure disorders (1; 0.1%). Common variable immunodeficiency (504; 34.9%), hereditary angioedema (222; 15.4%), and DiGeorge syndrome (182; 12.6%) were the most frequent diagnoses.ConclusionIn this article, we report the epidemiology of IEIs in the Czech Republic for the first time based on the CzNR of IEIs data. The prevalence of IEIs is approximately 13.2 patients per 100000 inhabitants of the Czech Republic.

PU nanofibersin situdoped with silver nanoparticles were prepared using free-surface electrospinning and no post-treatment. Nanofibres with silver behenate exhibited homogenous morphology, strong antimicrobial properties and low silver leaching.