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The following is a summary of “Karyotype evolution of myelodysplastic syndrome and acute myeloid leukemia with TP53 mutations,” published in the February 2025 issue of the International Journal of Hematology by Matsumoto et al.
Researchers conducted a retrospective study analyzing G-banding of bone marrow samples from 8 patients with myelodysplastic syndrome or acute myeloid leukemia with TP53 mutations (MDS/AML-TP53), revealing shared chromosomal abnormalities and complex evolutionary patterns as phylogenetic trees.
They found that the initial roots and all branches, with few exceptions, had −5/5q− and −7/7q− in common. They analyzed time series karyotype data from 6 patients, revealing branched, linear, parallel, and macro-evolutions. In 2 patients, numerous branches appeared as the initial transformation.
The results showed that chromosome loss was more common than gain. Structural and numerical abnormalities were often deleted as karyotype evolution progressed. Loss of translocated chromosomes with break sites at or near centromeres frequently caused monosomies of 2 involved chromosomes.
Investigators found that G-banding enabled analysis and visualization of karyotype evolution as phylogenetic trees. They proposed G-banding as a new interpretation method for classical karyotype analysis.
Source: link.springer.com/article/10.1007/s12185-025-03938-w
