Figure 1. Features of monoallelic and... | American Society of Hematology

Figure 1.

$Features of monoallelic and multi-hit TP53-mutated MDS. A. MDS clone with monoallelic TP53 mutation. MDS with single mutation and low VAF (<10%) are considered monoallelic, with residual TP53 activity. The disease is dominated by non-TP53 mutated clones. This is generally a chemo-sensitive disease with better prognosis. B. Clone with multi-hit TP53 mutation, with minimal to no residual TP53 activity. This can occur from more than 1 TP53 mutation (VAF >10%), or 1 TP53 mutation along with chromosomal abnormality leading to loss of 17p locus, or with cn-LOH. A single TP53 mutation with high VAF (>50%) is a presumptive marker of cn-LOH or loss of trans allele. The clone with the TP53 loss becomes the dominant clone in this disease, generally lacking other driver mutations or chr abnormalities. Hence, the disease is chemo-refractory and associated with poor prognosis. Created with BioRender.com.$

Features of monoallelic and multi-hit TP53-mutated MDS. A. MDS clone with monoallelic TP53 mutation. MDS with single mutation and low VAF (<10%) are considered monoallelic, with residual TP53 activity. The disease is dominated by non-TP53 mutated clones. This is generally a chemo-sensitive disease with better prognosis. B. Clone with multi-hit TP53 mutation, with minimal to no residual TP53 activity. This can occur from more than 1 TP53 mutation (VAF >10%), or 1 TP53 mutation along with chromosomal abnormality leading to loss of 17p locus, or with cn-LOH. A single TP53 mutation with high VAF (>50%) is a presumptive marker of cn-LOH or loss of trans allele. The clone with the TP53 loss becomes the dominant clone in this disease, generally lacking other driver mutations or chr abnormalities. Hence, the disease is chemo-refractory and associated with poor prognosis. Created with BioRender.com.

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