FISH combined with RT-PCR facilitates classification of Chinese adult patients with B-other ALL through improved identification of <italic>ZNF384</italic> rearrangement.

AbstractZNF384 gene rearrangements are a distinct subtype of adult B cell acute lymphoblastic leukemia (B-ALL). We screened 46 B-other ALL patients for <italic>ZNF384</italic> fusions using fluorescent <italic>in situ</italic> hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR). Clinical data, treatment response, and minimal residual disease (MRD) status were analyzed. Ten (21.7%) patients were <italic>ZNF384-r</italic> positive (nine by FISH, nine by RT-PCR, eight by both<bold>).</bold> FISH showed atypical signals, including 3’ signal gain and 5’ signal deletion. <italic>EP300</italic> was the main fusion partner (<italic>n</italic> = 5). TAF15::ZNF384, SYNRG::ZNF384, CREBBP::ZNF384, and TCF3::ZNF384 fusions were found in one patient each; one case’s partner gene is unknown. One patient was MRD-negative at the end of the first induction, lower than in patients without <italic>ZNF384-</italic>r. <italic>ZNF384</italic>-r incidence matched B-other ALL incidence in Chinese patients. Combined FISH and RT-PCR improved detection. ALL with <italic>ZNF384</italic>-r has unique features, and lower MRD-negative response may indicate a negative impact on traditional treatments. [ABSTRACT FROM AUTHOR]