Henryk A. Domanski

TL;DR: The hypothesis that the NAB2/STAT6 fusions will result in altered properties of the transcriptional co‐repressor NAB 2 ‐ a key regulator of the early growth response 1 (EGR1) transcription factor – was corroborated by global gene expression analysis; SFTs showed deregulated expression of EGR1 target genes, as well as of other, developmentally important genes.

TL;DR: In this paper, the authors used chromosome banding analysis, fluorescence in situ hybridization (FISH), mRNA sequencing, RT-PCR and quantitative real-time PCR on a series of morphologically well-characterized pseudomyogenic haemangioendothelioma (PHE) to show that a balanced translocation, t(7;19)(q22;q13), detected as the sole cytogenetic aberration in two cases, results in fusion of the SERPINE1 and FOSB genes.

TL;DR: The molecular genetic characteristics of CCS from 10 patients are described and topoisomerase I consensus sequences were found close to the junctions, suggesting that this enzyme may participate in the genesis of the EWS/ATF1 fusion.

TL;DR: The identified genetic aberrations were not confined to MIFS; an identical t(1;10) was also found in a case of HFT and the amplicon in 3p was seen in an IMFH and the consequences of these alterations for gene expression were assessed.

TL;DR: The finding of a novel SEC31L1/ALK fusion gene in an intraabdominal IMT of a young man is described and disruption of the ALK locus on chromosome 2 is strongly indicated.