AI Article Synopsis
- Chromosomal abnormalities play a crucial role in determining the prognosis for acute myeloid leukemia (AML), making cytogenetic analysis important for assessing risk levels in patients.
- The case study focuses on an adult male patient diagnosed with AML, who exhibited a complex chromosomal makeup including heptasomy 21 and trisomy 13, along with other genetic variations observed through bone marrow analysis.
- Findings indicate that typical AML chromosomal alterations can be linked to intricate genomic changes that may affect disease outcomes, emphasizing the need for detailed genetic evaluation in AML cases.
Article Abstract
Chromosomal aberrations are among the most important prognostic parameters in AML, and conventional cytogenetic analysis remains essential for risk stratification. In this report, we describe an adult male patient with a high percentage of circulating blasts, pathologically confirmed as AML with maturation. Cytogenetic analysis of a bone marrow sample revealed heptasomy 21 and trisomy 13 within a complex karyotype of 52,XY,der(2)t(2;13)(q33.3;q32.1),+13,+21,+21,+21,+21,+21 in all 20 cells examined, which was confirmed by metaphase FISH. Chromosomal microarray analysis (CMA) revealed complete loss of heterozygosity (LOH) of chromosome 21, supporting a common origin. In addition, LOH of chromosome 1p, trisomy 13, and partial tetrasomy of 13q and partial monosomy of 2q as a result of an unbalanced translocation between chromosomes 2 and 13 were observed. Molecular analysis identified two pathogenic missense variants: RUNX1 p.D198Y and SRSF2 p.P95R. The clonal allele ratio of RUNX1 p.D198Y was consistent with all copies of chromosome 21 in the leukemic clone carrying the mutation. Within the medical literature, there are no reports of heptasomy 21 for comparison; however, there are reports of AML with either polysomy 21 or trisomy 13. Our results suggest that even relatively 'common' AML aneuploidies may be associated with much more complex genomic changes, including loss of heterozygosity, which impact prognosis.
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| http://dx.doi.org/10.1016/j.cancergen.2022.07.001 | DOI Listing |
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