JOURNAL OF THE KYORIN MEDICAL SOCIETY

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Comprehensive analyses of chimeras are crucial to understand molecular mechanisms of hematological malignancies. In this study, RNA-seq data of 1284 fusion transcripts of cell lines derived from hematological malignancies were analyzed using computer software. Chimeras representing chromosomal instability, that is, those with chromosomes of the same number whose distance between each breakpoint was under 1M base pairs (the detection limit of conventional karyotyping) and those formed by deletion or tandem repeat, accounted for three-quarters of all detected fusion transcripts, while balanced translocation/inversion accounted for 6.2%. There were four recurrent novel in-frame fusions (CLECL1-KLRB1, STEAP1B-RAPGEF5, TRDV2-TRAC, and YAF2-RYBP) and three recurrent long non-coding RNA involved in fusions (PFKFB3-LINC02649, LINC01934-ITGA4, and PVT1-CCDC26) , which were detected in numerous cell lines in multiple strains. In the future, detailed analyses using cell experiments and patient samples at each stage, and introduction of Hi-C method are needed. Ingenuity in handling RNA-seq data, analogous to genome structural analysis, may lead to an increase in the efficiency of chromosome analysis of hematological malignancies.

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