LSAMP Rearrangement in Acute Myeloid Leukemia With a Jumping Translocation Involving 3q13.31

摘要

Jumping translocations (JTs) are rare but recurrent cytogenetic abnormalities in hematological malignancies and solid tumors [1]. Of the JTs reported in hematological malignancies, those involving chromosome 3q are the second most frequently observed donor segment [2-4]. However, to date, the impact of JTs involving 3q13.3 on the pathogenesis of leukemia has not been elucidated [4]. We describe the first RNA-sequencing (RNA-seq) data of a de novo acute myeloid leukemia (AML) patient with a JT involving 3q13.3 and trisomy 8 to investigate the structural variation and altered gene expression associated with JTs involving 3q13.3. The Institutional Review Board (IRB) of Samsung Medical Center, Seoul, Korea, approved this study (IRB No. SMC 2020-02-145-001). Informed consent for genetic studies were obtained from the patient before his death.