, and Are Novel Partner Genes in Childhood Acute Leukemia.

Chromosomal rearrangements of the human / gene are associated with acute leukemias, especially in infants. is rearranged with a big variety of partner genes and in multiple breakpoint locations. Detection of all types of rearrangements is an essential part of acute leukemia initial diagnostics and follow-up, as it has a strong impact on the patients' outcome. Due to their high heterogeneity, rearrangements are most effectively uncovered by next-generation sequencing (NGS), which, however, requires a thorough prescreening by cytogenetics. Here, we aimed to characterize uncommon rearrangements in childhood acute leukemia by conventional karyotyping, FISH, and targeted NGS on both DNA and RNA level with subsequent validation. As a result of this comprehensive approach, three novel rearrangements were discovered: ins(X;11)(q26;q13q25)/, t(10;11)(q22;q23.3)/, and inv(11)(q12.2q23.3)/. These novel -chimeric genes expand our knowledge of the mechanisms of -associated leukemogenesis and allow tracing the dynamics of minimal residual disease in the given patients.