Landscape of somatic mutations and clonal evolution in NUP98‐rearranged adult acute myeloid leukaemia

• Published in: British journal of haematology Vol. 206; no. 4; pp. 1097 - 1102
• Main Authors: Frerich, Candace, Li, Peng, Raess, Philipp W., Dunlap, Jennifer, Lachowiez, Curtis, Solis‐Ruiz, Jose, Press, Richard, Long, Nicola, Swords, Ronan T., Wiszniewska, Joanna, Fan, Guang, Xie, Wei
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.04.2025
• Subjects: acute leukaemia; Acute myeloid leukemia; Adult; Aged; Clonal Evolution - genetics; cytogenetics of leukaemia; Evolutionary genetics; Female; Fusion protein; Gene Rearrangement; Humans; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - pathology; Male; Middle Aged; molecular haematology; Mutation; myeloid leukaemia; Nuclear Pore Complex Proteins - genetics; Oncogene Proteins, Fusion - genetics; Patients; Pediatrics; translocation; molecular haematology; myeloid leukaemia; translocation; acute leukaemia; cytogenetics of leukaemia
• ISSN: 0007-1048; 1365-2141; 1365-2141
• DOI: 10.1111/bjh.19962

Summary Acute myeloid leukaemia with NUP98 rearrangement (AML‐NUP98) has been previously described in paediatric patients, and the clinical significance in adult AML patients remains largely unexplored. In this study, we identified specific partner fusion genes and examined somatic co‐mutations and clonal evolution longitudinally in adult AML‐NUP98 patients. Our comprehensive analysis provides an understanding of NUP98 rearrangement and co‐mutations influencing clonal evolution and disease progression and offers valuable insights into potential therapeutic strategies. Further multiple centre studies are needed to investigate this entity in adult patients and improve treatment strategy.