Acute Myeloid Leukemia, Myelodysplasia-Related (AML-MR), With del(5q) and Double Minutes Containing Chromosomal Segment 11q24 Leading to Amplification and Expression of FLI1 - PubMed
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- #Double minutes
- #AML-MR
- #FLI1 amplification
- A 74-year-old female with a history of MDS (with del(5q) and mutations in TP53 and SF3B1) transformed to AML-MR after eight years, despite initial good response to lenalidomide.
- At leukemic transformation, cytogenomic analysis revealed persistent del(5q) and the presence of double minutes (dmins) in most cells, which carried an amplified 11q24.2-q25 segment containing FLI1 and ETS1, but not KMT2A.
- FLI1 expression was confirmed in myeloblasts via immunohistochemistry, linking the dmin-mediated amplification to potential leukemogenic mechanisms and poor prognosis.
- This case is the third reported instance of 11q24-derived dmins involving FLI1/ETS1 and the first in AML evolving from del(5q) MDS, highlighting dmins as drivers of genomic instability and clonal evolution in myeloid neoplasms.
- Integrative cytogenomic profiling is emphasized for identifying rare amplification events and uncovering novel therapeutic targets in leukemia progression.