AI Article Synopsis
- Lineage switch during leukemic relapse is rare, particularly noted in cases of KMT2A-rearranged infant leukemia, but the mechanisms behind it are not fully understood.
- This report discusses a female infant who went into remission for acute monocytic leukemia but relapsed as acute lymphocytic leukemia six months later, both cases being KMT2A-MLLT3-rearranged.
- Whole exome sequencing of bone marrow samples revealed two loss-of-function mutations in PAX5 in the relapse, suggesting these mutations were significant in driving the switch from one type of leukemia to another.
Article Abstract
Lineage switch is a rare event at leukemic relapse. While mostly known to occur in KMT2A-rearranged infant leukemia, the underlying mechanism is yet to be depicted. This case report describes a female infant who achieved remission of KMT2A-MLLT3-rearranged acute monocytic leukemia, but 6 months thereafter, relapsed as KMT2A-MLLT3-rearranged acute lymphocytic leukemia. Whole exome sequencing of the bone marrow obtained pre-post lineage switch revealed two somatic mutations of PAX5 in the relapse sample. These two PAX5 alterations were suggested to be loss of function, thus to have played the driver role in the lineage switch from acute monocytic leukemia to acute lymphocytic leukemia.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277256 | PMC |
| http://dx.doi.org/10.1111/cas.15380 | DOI Listing |
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