Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients
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.
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Sociedade Brasileira de Patologia Clínica
2017
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oai:scielo:S1676-244420170006003972018-02-05Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patientsBorges,Daniela P.França,Ivo Gabriel F.Oliveira,Roberta Taiane G.Melo,Mayara M. L.Pinheiro,Ronald F. chromosomal breakage myelodysplastic syndromes chromosomal instability genomic instability 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.info:eu-repo/semantics/openAccessSociedade Brasileira de Patologia Clínica Jornal Brasileiro de Patologia e Medicina Laboratorial v.53 n.6 20172017-11-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442017000600397en10.5935/1676-2444.20170063 |
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Borges,Daniela P. França,Ivo Gabriel F. Oliveira,Roberta Taiane G. Melo,Mayara M. L. Pinheiro,Ronald F. |
| spellingShingle |
Borges,Daniela P. França,Ivo Gabriel F. Oliveira,Roberta Taiane G. Melo,Mayara M. L. Pinheiro,Ronald F. Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients |
| author_facet |
Borges,Daniela P. França,Ivo Gabriel F. Oliveira,Roberta Taiane G. Melo,Mayara M. L. Pinheiro,Ronald F. |
| author_sort |
Borges,Daniela P. |
| title |
Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients |
| title_short |
Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients |
| title_full |
Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients |
| title_fullStr |
Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients |
| title_full_unstemmed |
Spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients |
| title_sort |
spontaneous chromatid break as clonal evolution in myelodysplastic syndrome patients |
| description |
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. |
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Sociedade Brasileira de Patologia Clínica |
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2017 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442017000600397 |
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