Swanson, Kirsten E
Mayo Clinic
Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Rochester, Minnesota
Citations 1
Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia
Berg, Holly , Blackburn, Patrick R. , Smadbeck, James B. , Swanson, Kirsten E, Rice, Christopher S., Webley, Matthew, Johnson, Sarah H. , Vasmatzis, George , Xu, Xinjie , Greipp, Patricia T. , Hoppman, Nicole L., Boston, Catherine H, Sutton, Lisa, Peterson, Jess F. , Peterson, Jess F , Greipp, Patricia T , Swanson, Kirsten E, Ketterling, Rhett P. , Baughn, Linda B.
Laboratory Medicine | September 5, 2020 | Volume: 52 | Issue: 3 | Pages: 297-302
Abstract Zinc-finger protein 384 (ZNF384) gene fusions with EP300 have recently been described as a recurrent fusion in B-cell acute lymphoblastic leukemia (B-ALL) with a good response to conventional chemotherapy, suggesting a favorable prognosis. Herein, we report on a female patient aged 12 years with uninformative conventional chromosome and B-ALL panel fluorescence in situ hybridization studies with chromosomal microarray showing multiple copy number gains, including relative gains in the ZNF384 (12p13.31) and EP300 (22q13.2) gene regions, suggesting a cryptic EP300/ZNF384 fusion. Ultimately, a next-generation sequencing assay, mate pair sequencing, was utilized to confirm EP300/ZNF384 fusion in this B-ALL clone, which may confer a favorable overall prognosis and potential targeted therapy.