Abstract
ABSTRACT Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by peripheral cytopenias due to ineffective erythropoiesis and an increased risk for evolving into acute myeloid leukemia (AML). Chromosomal abnormalities represent the most important marker of risk stratification for AML transformation. Chromatid break (chtb) is a discontinuity of a single chromatid. We report the case of a patient with MDS whose cytogenetic analysis showed spontaneous chromatid breakage (chrb): 46,XY,add(13)(q34),chtb(15)(q24) [3]/47,XY,chtb(2)(q22),del(5)(q35),del(7)(q32),+8,del(11q)(q23),del(q22)[cp17]. He was considered a high-risk patient due to the complex karyotype and the presence of chtb. We suggest that this chromosomal abnormality may be considered as a marker of genomic instability in MDS.
Highlights
Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell malignancy characterized by peripheral cytopenias due to ineffective erythropoiesis and an increased risk of evolving into acute myeloid leukemia (AML)(1)
The presence of mutation in deoxyribonucleic acid (DNA) was detected in up to 80% of the MDS patients[3], many of these DNA lesions are due to increased oxidative stress, which is a common problem in MDS due to the inefficient erythropoiesis and the transfusion dependence[4,5,6,7]
The reports of chromosomal breakage in MDS have been limited to clastogenic exposure or therapy related MDS . [21]
Summary
Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell malignancy characterized by peripheral cytopenias due to ineffective erythropoiesis and an increased risk of evolving into acute myeloid leukemia (AML)(1). Chromatid break (chtb) is a discontinuity of a single chromatid in which there is a clear misalignment of one of the chromatids, originating acentric fragments and, generating a misalignment of the chromosome that occurs, mostly, in later S phase and G2 of the cell cycle[10,11,12,13,14] This type of aberration can be observed in rare autosomal recessive disorder such as Bloom syndrome[10,11,12] and following exposure to clastogenic drugs such as mitomycin C and bleomycin[10, 15]. The aim of this report is to present a rare case of MDS patient who showed spontaneous chromatid break (chtb) during clonal evolution, and to discuss the possible impact of this finding
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