Hema-seq reveals genomic aberrations in a rare simultaneous occurrence of hematological malignancies

• DOI: 10.1016/j.crmeth.2023.100617
• Publication Date: 2023-10-17T14:51:05Z
• Authors: Dajeong Jeong; Amos C. Lee; Kyoungseob Shin; Jinhyun Kim; Myoung Hee Ham; Changhee Lee; Sumin Lee; Ahyoun Choi; Taehoon Ryu; Okju Kim; Yushin Jung; Sunghoon Kwon; Dong Soon Lee
• Keywords: Chromothripsis; Lineage (genetic)

Co-occurrence of multiple myeloma and acute myelogenous leukemia is rare, with both malignancies often tracing back to multipotent hematopoietic stem cells. Cytogenetic techniques are the established baseline for diagnosis characterization complex hematological malignancies. In this study, we develop a workflow called Hema-seq delineate clonal changes across various lineages through integration whole-genome sequencing, copy-number variations, cell morphology, cytogenetic aberrations. Hema-seq, cells selected from Wright-stained slides fluorescent probe-stained sequencing. This technique therefore enables direct linking sequences profiles. Through method, mapped sequential alterations within lineage, identifying critical shifts leading myeloid (AML) formations. By synthesizing data each provided insights into tree's evolution. Overall, study highlights Hema-seq's capability in deciphering genomic heterogeneity malignancies, which can enable better treatment strategies.