Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44)
Abstract Background Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML). AML referred to as myeloid leukemia of Down syndro...
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doaj-f1a62821854b468cbb5549ed41f56c132020-11-25T00:14:09ZengBMCMolecular Cytogenetics1755-81662018-03-011111610.1186/s13039-018-0370-8Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44)Faten Moassass0Abdulsamad Wafa1Thomas Liehr2Ayman Al-Ablog3Walid AL Achkar4Molecular Biology and Biotechnology Department, Human Genetics Division, Chromosomes Laboratory, Atomic Energy Commission of SyriaMolecular Biology and Biotechnology Department, Human Genetics Division, Chromosomes Laboratory, Atomic Energy Commission of SyriaJena University Hospital, Institute of Human GeneticsMolecular Biology and Biotechnology Department, Human Genetics Division, Chromosomes Laboratory, Atomic Energy Commission of SyriaMolecular Biology and Biotechnology Department, Human Genetics Division, Chromosomes Laboratory, Atomic Energy Commission of SyriaAbstract Background Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML). AML referred to as myeloid leukemia of Down syndrome (ML-DS) is observed especially after birth at an early gestational age and characterized by enhanced white blood cell count, failure of spontaneous remission, liver fibrosis or liver dysfunction, and is significantly associated with early death. There are only few studies yet focusing on the clonal cytogenetic changes during evolution of ML-DS. Case presentation In a 1.4-year-old boy with DS an immunophenotype consistent with AML-M1 according to French-American-British (FAB) classification was diagnoses. Cytogenetic and molecular cytogenetic analyses revealed, besides constitutional free trisomy 21, an unbalanced translocation as der(16)t(1;16)(q25.3;q24), plus a balanced translocation t(3;20)(q25;q13.1). A poor clinical outcome was observed here. Conclusions To the best of our knowledge, an ML-DS case associated with identical acquired chromosomal abnormalities was not previously reported. Our findings suggest that especially partial trisomy 1q25 to 1q44 may be indicative for a poor prognosis in ML-DS.http://link.springer.com/article/10.1186/s13039-018-0370-8Down syndromeTrisomy 21AMLAcquired chromosomal abnormalities (ACAs)Clone evolutionCytogenetics |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Faten Moassass Abdulsamad Wafa Thomas Liehr Ayman Al-Ablog Walid AL Achkar |
spellingShingle |
Faten Moassass Abdulsamad Wafa Thomas Liehr Ayman Al-Ablog Walid AL Achkar Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44) Molecular Cytogenetics Down syndrome Trisomy 21 AML Acquired chromosomal abnormalities (ACAs) Clone evolution Cytogenetics |
author_facet |
Faten Moassass Abdulsamad Wafa Thomas Liehr Ayman Al-Ablog Walid AL Achkar |
author_sort |
Faten Moassass |
title |
Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44) |
title_short |
Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44) |
title_full |
Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44) |
title_fullStr |
Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44) |
title_full_unstemmed |
Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44) |
title_sort |
down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44) |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2018-03-01 |
description |
Abstract Background Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML). AML referred to as myeloid leukemia of Down syndrome (ML-DS) is observed especially after birth at an early gestational age and characterized by enhanced white blood cell count, failure of spontaneous remission, liver fibrosis or liver dysfunction, and is significantly associated with early death. There are only few studies yet focusing on the clonal cytogenetic changes during evolution of ML-DS. Case presentation In a 1.4-year-old boy with DS an immunophenotype consistent with AML-M1 according to French-American-British (FAB) classification was diagnoses. Cytogenetic and molecular cytogenetic analyses revealed, besides constitutional free trisomy 21, an unbalanced translocation as der(16)t(1;16)(q25.3;q24), plus a balanced translocation t(3;20)(q25;q13.1). A poor clinical outcome was observed here. Conclusions To the best of our knowledge, an ML-DS case associated with identical acquired chromosomal abnormalities was not previously reported. Our findings suggest that especially partial trisomy 1q25 to 1q44 may be indicative for a poor prognosis in ML-DS. |
topic |
Down syndrome Trisomy 21 AML Acquired chromosomal abnormalities (ACAs) Clone evolution Cytogenetics |
url |
http://link.springer.com/article/10.1186/s13039-018-0370-8 |
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