Синусный гистиоцитоз (болезньРозаи - Дорфмана): клиническое наблюдение

The authors characterized a heterogeneous group of a rare disease - Langerhans and non-Langerhans cell histiocytosis, and analyzed key differential and diagnostic differences between these forms of the disease. A very rare case of non- Langerhans cell histiocytosis (Rosai-Dorfman disease) in a female patient aged 63 with the subsequent spontaneous regression of eruptions was described. Key skin manifestations of the Rosai-Dorfman disease included papular eruptions of the typical intense pink color with a yellowish and brown tint. Morphologic changes were characterized by proliferation of histiocytes and accumulation of different lipids and pentalamellar markers (S-100 protein, СD 14, СD 68, lysozyme) in their cytoplasm. Though the Rosai-Dorfman disease usually involves lymph nodes, this case was characterized by unaffected nodular structures.Охарактеризована неоднородная группа редких гистиоцитозов лангергансового и нелангергансового типов; проанализированы их основные дифференциально-диагностические различия. Описано чрезвычайно редкое наблюдение гистиоцитоза нелангергансового типа (болезнь Розаи - Дорфмана) у пациентки 63 лет с последующим спонтанным регрессом высыпаний. Основные кожные проявления болезни Розаи - Дорфмана были представлены папулезными высыпаниями типичного насыщенного розового цвета с желтовато-коричневым оттенком. Морфологические изменения характеризовались пролиферацией гистиоцитов и накоплением в их цитоплазме различных липидов, пенталамеллярных маркеров (протеин S-100, СD14, СD 68, лизоцим). Несмотря на то что болезнь Розаи - Дорфмана, как правило, протекает с поражением лимфоузлов, отличительной особенностью данного наблюдения явилось отсутствие вовлечения нодулярных структур

Mapping of genomic double-strand breaks by ligation of biotinylated oligonucleotides to forum domains: Analysis of the data obtained for human rDNA units

DNA double-strand breaks (DSBs) are associated with different physiological and pathological processes in different organisms. To understand the role of DSBs in multiple cellular mechanisms, a robust method for genome-wide mapping of chromosomal breaks at one-nucleotide resolution is required. Many years ago, we detected large DNA fragments migrating from DNA-agarose plugs in pulsed-field gels, which we named ‘forum domains’ [1,2]. Recently, we developed a method for genome-wide mapping of DSBs that produces these 50–150 kb DNA domains using microarrays or 454 sequencing (Tchurikov et al., 2011; 2013). Now we have used Illumina sequencing to map DSBs in repetitive rDNA units in human HEK293T cells. Here we describe in detail the experimental design and bioinformatics analysis of the data deposited in the Gene Expression Omnibus with accession number GSE49302 and associated with the study published in the Journal of Molecular Cell Biology (Tchurikov et al., 2014)

Genome-wide mapping of hot spots of DNA double-strand breaks in human cells as a tool for epigenetic studies and cancer genomics

Hot spots of DNA double-strand breaks (DSBs) are associated with coordinated expression of genes in chromosomal domains (Tchurikov et al., 2011 [1]; 2013). These 50–150-kb DNA domains (denoted “forum domains”) can be visualized by separation of undigested chromosomal DNA in pulsed-field agarose gels (Tchurikov et al., 1988; 1992) and used for genome-wide mapping of the DSBs that produce them. Recently, we described nine hot spots of DSBs in human rDNA genes and observed that, in rDNA units, the hot spots coincide with CTCF binding sites and H3K4me3 marks (Tchurikov et al., 2014), suggesting a role for DSBs in active transcription. Here we have used Illumina sequencing to map DSBs in chromosomes of human HEK293T cells, and describe in detail the experimental design and bioinformatics analysis of the data deposited in the Gene Expression Omnibus with accession number GSE53811 and associated with the study published in DNA Research (Kravatsky et al., 2015). Our data indicate that H3K4me3 marks often coincide with hot spots of DSBs in HEK293T cells and that the mapping of these hot spots is important for cancer genomic studies