Chromosomal rearrangement in Down syndrome with acute myeloid leukemia

2003 ◽  
Vol 70 (9) ◽  
pp. 755-758
Author(s):  
Chetana Bakshi ◽  
Pratibha Amare (Kadam) ◽  
Dhiraj Abhyankar ◽  
Chanda Baisane ◽  
Shripad Banavali ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Myeloid Leukemia ◽  
Chromosomal Rearrangement ◽  
Acute Myeloid

scholarly journals Minimally differentiated acute myeloid leukemia with ring/marker derived from chromosome 7 in a child with Down syndrome

2019 ◽  
Vol 41 (1) ◽  
pp. 84-87
Author(s):  
Maria Luiza Rocha da Rosa Borges ◽  
Eliane Maria Soares-Ventura ◽  
Thomas Liehr ◽  
Terezinha de Jesus Marques-Salles
Keyword(s):  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Myeloid Leukemia ◽  
Chromosome 7 ◽  
Acute Myeloid

scholarly journals Infections in children with down syndrome and acute myeloid leukemia: a report from the Canadian infections in AML research group

2013 ◽  
Vol 8 (1) ◽  
pp. 47 ◽  
Author(s):  
Thai Tran ◽  
David Mitchell ◽  
David Dix ◽  
Sonia Cellot ◽  
Marie-Chantal Ethier ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Research Group ◽  
Myeloid Leukemia ◽  
Children With Down Syndrome ◽  
Acute Myeloid

Differences of Somatic Mutations and Gene Expression in Blasts of Transient Leukemia and Acute Myeloid Leukemia of Down Syndrome

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2364-2364
Author(s):  
Jian Chen ◽  
Fouad Yousif ◽  
Timothy Beck ◽  
John D McPherson ◽  
Johann K. Hitzler
Keyword(s):  
Gene Expression ◽  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Myeloid Leukemia ◽  
Somatic Mutations ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Transient Leukemia ◽  
Genetic Events ◽  
Acute Myeloid

Abstract Background: Transient leukemia (TL) occurs in 30% of newborns with Down syndrome (DS) and typically resolves spontaneously. Approximately 20% of infants with TL go on to develop acute myeloid leukemia of DS (DS-AML) within the first four years of life. The blasts of both TL and DS-AML harbor somatic mutations of GATA1 . The objective of this study was to identify additional genetic events, which associated with the progression of TL to DS-AML. Methods: Leukemic blasts of TL, DS-AML and normal T lymphocytes were sorted from blood and bone marrow samples of five patients who successively developed both disorders. In addition, blasts of one patient with subsequent relapse of DS-AML were analyzed. Mutational spectrum and gene expression and were determined by exome sequencing and RNASeq (Illumina HiSeq2000). The presence of mutations, which were identified with this approach in DS-AML blasts, was examined by droplet digital PCR in TL blasts (BioRad QX200). Results: Blasts of TL overall harbored fewer mutations than those of DS-AML. Mutations of cohesin and RAS pathway genes were identified in a subset of DS-AML but not TL. In the patient who developed a relapse, different cohesin gene mutations were detected at initial diagnosis of AML and relapse; a minor clone present at initial diagnosis of AML emerged as the predominant clone at relapse. Concordant somatic GATA1 mutations were present in both TL and DS-AML blasts derived from the same patient. In contrast, other genetic events, which were detected in DS-AML blasts by exome sequencing, were confirmed to be absent in TL (by droplet digital PCR). The majority of differentially expressed genes showed higher expression levels in blasts of TL compared to DS-AML. They included genes encoding chemokines and related to IL1 and TGFb signaling. Conclusions: The pathogenic sequence starting with TL and culminating in AML is uniquely initiated in children with DS by somatic mutation of GATA1. In contrast, the events associated with the transformation of TL to DS-AML resemble progression factors also found in non-DS AML. These progression events were not detectable even in minor subclones of TL suggesting they are acquired after the onset of TL. This research was supported by funding from the Canadian Cancer Society Research Institute and Ontario Institute for Cancer Research. Disclosures No relevant conflicts of interest to declare.

Infectious Complications in Children With Acute Myeloid Leukemia and Down Syndrome: Analysis of the Prospective Multicenter Trial AML-BFM 2004

2016 ◽  
Vol 63 (6) ◽  
pp. 1070-1074 ◽  
Author(s):  
Angela Hassler ◽  
Konrad Bochennek ◽  
Julia Gilfert ◽  
Corinna Perner ◽  
Stefan Schöning ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Myeloid Leukemia ◽  
Multicenter Trial ◽  
Infectious Complications ◽  
Syndrome Analysis ◽  
Prospective Multicenter Trial ◽  
Acute Myeloid

Lineage Conversion From Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia on Rearrangement of the IgH Gene in a Patient with Down Syndrome

2002 ◽  
Vol 76 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Kazuya Tsuboi ◽  
Makoto Yazaki ◽  
Hiroshi Miwa ◽  
Shinsuke Iida ◽  
Shogo Banno ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Acute Lymphoblastic Leukemia ◽  
Myeloid Leukemia ◽  
Lymphoblastic Leukemia ◽  
Acute Myeloid

scholarly journals Favorable treatment outcome in children with acute myeloid leukemia and Down syndrome [letter; comment]

Blood ◽  
1993 ◽  
Vol 81 (11) ◽  
pp. 3164-3164 ◽  
Author(s):  
S Kojima ◽  
K Kato ◽  
T Matsuyama ◽  
T Yoshikawa ◽  
K Horibe
Keyword(s):  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Treatment Outcome ◽  
Myeloid Leukemia ◽  
Letter Comment ◽  
Acute Myeloid

scholarly journals Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children's Oncology Group Protocol AAML0431

2019 ◽  
Vol 144 (4) ◽  
pp. 466-472 ◽  
Author(s):  
Kelley J. Mast ◽  
Jeffrey W. Taub ◽  
Todd A. Alonzo ◽  
Alan S. Gamis ◽  
Claudio A. Mosse ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Myelodysplastic Syndrome ◽  
Myeloid Leukemia ◽  
Residual Disease ◽  
Event Free Survival ◽  
Diagnostic Features ◽  
Free Survival ◽  
Minimal Residual ◽  
Acute Myeloid

Context.— Detailed diagnostic features of acute myeloid leukemia in Down syndrome are lacking, leading to potential misdiagnoses as standard acute myeloid leukemia occurring in patients with Down syndrome. Objective.— To evaluate diagnostic features of acute myeloid leukemia and myelodysplastic syndrome in patients with Down syndrome. Design.— Diagnostic bone marrow samples from 163 patients enrolled in the Children's Oncology Group study AAML0431 were evaluated by using central morphologic review and institutional immunophenotyping. Results were compared to overall survival, event-free survival, GATA1 mutation status, cytogenetics, and minimal residual disease results. Results.— Sixty myelodysplastic syndrome and 103 acute myeloid leukemia samples were reviewed. Both had distinctive features compared to those of patients without Down syndrome. They showed megakaryocytic and erythroid but little myeloid dysplasia, and marked megakaryocytic hyperplasia with unusual megakaryocyte morphology. In acute myeloid leukemia cases, megakaryoblastic differentiation of blasts was most common (54 of 103, 52%); other cases showed erythroblastic (11 of 103, 11%), mixed erythroid/megakaryoblastic (20 of 103, 19%), or no differentiation (10 of 103, 10%). Myelodysplastic syndrome and acute myeloid leukemia cases had similar event-free survival and overall survival. Leukemic subgroups showed interesting, but not statistically significant, trends for survival and minimal residual disease. Cases with institutional diagnoses of French American British M1-5 morphology showed typical features of Down syndrome disease, with survival approaching that of other cases. Conclusions.— Myelodysplastic syndrome and acute myeloid leukemia in Down syndrome display features that allow discrimination from standard cases of disease. These distinctions are important for treatment decisions, and for understanding disease pathogenesis. We propose specific diagnostic criteria for Down syndrome–related subtypes of acute myeloid leukemia and myelodysplastic syndrome.

scholarly journals Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome

2019 ◽  
Vol 08 (04) ◽  
pp. 187-192
Author(s):  
Kanokporn Chukua ◽  
Chayanont Netsawang ◽  
Kittipoom Padungthai ◽  
Thanitchet Khetkham ◽  
Piyaporn Chokevittaya ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Down Syndrome ◽  
Risk Factor ◽  
Myeloid Leukemia ◽  
Heterozygous Mutation ◽  
Frameshift Mutations ◽  
Children With Down Syndrome ◽  
Transient Abnormal Myelopoiesis ◽  
Nucleotide Insertion ◽  
Acute Myeloid

AbstractChildren with Down syndrome (DS) are 150 times more likely to develop acute myeloid leukemia (ML-DS), compared with those without. One risk factor is transient abnormal myelopoiesis (TAM). Somatic truncating GATA1 mutations are found in most TAM patients and are markers for future ML-DS. We identified two novel frameshift mutations in our seven newborns with DS and TAM: a heterozygous mutation of 17 nucleotide duplication (c.154_170 dup) and a heterozygous 9-nucleotide deletion combined with a 2-nucleotide insertion (c.150_158delins CT). Both mutations introduced a truncated GATA1 protein. Thus, neonates with DS and TAM require frequent ML-DS monitoring.

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