Polyclonal evolution of Fanconi anemia to MDS and AML revealed at single cell resolution.

ABSTRACT:

Background

Fanconi anemia (FA) is a rare disease of bone marrow failure. FA patients are prone to develop myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). However, the molecular clonal evolution of the progression from FA to MDS/AML remains elusive.

Methods

Herein, we performed a comprehensive genomic analysis using an FA patient (P1001) sample that transformed to MDS and subsequently AML, together with other three FA patient samples at the MDS stage.

Results

Our finding showed the existence of polyclonal pattern in these cases at MDS stage. The clonal evolution analysis of FA case (P1001) showed the mutations of UBASH3A, SF3B1, RUNX1 and ASXL1 gradually appeared at the later stage of MDS, while the IDH2 alteration become the dominant clone at the leuk

SUBMITTER: Chang L 

PROVIDER: S-EPMC9513989 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature