Down's syndrome with myelodysplastic syndrome showing t(7;11)(p13;p14)

Ohnìshì, H.; Taki, Tomohiko; Tabuchi, Ken; Kobayashi, M; Bessho, Fumio; Hayashi, Yasuhide

doi:10.1002/1096-8652(200009)65:1<62::aid-ajh11>3.0.co;2-#

Cited by 3 publications

(2 citation statements)

References 21 publications

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“…GATA-1 further participates in eosinophil development [9]. Over the past few years genetic alterations in the gene encoding for GATA-1 have been linked to several hematological diseases including Down's syndrome-associated acute megakaryoblastic leukemia, X-linked dyserythropoietic anemia and thrombocytopenia, as well as macrothrombocytopenia with b-thalassemia [10][11][12][13][14].…”

Section: Introductionsupporting

confidence: 90%

GATA‐1 transcription factor is up‐regulated in bone marrow hematopoietic progenitor CD34⁺ and erythroid CD71⁺ cells in myelodysplastic syndromes

2007

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GATA-1 is a transcription factor governing the production of erythroid and megakaryocytic cells. Unobstructed GATA-1 expression in early progenitor cells commits them to the myeloid lineage, channeling its differentiation towards erythrocytes and megakaryocytes. Myelodysplastic Syndromes (MDS) are clonal disorders of the hematopoietic stem cell frequently presenting dysplasia in erythroid and/or megakaryocytic lineage. We reasoned that measurement of GATA-1 expression levels in hematopoietic progenitor CD34 + and the committed erythroid CD71 + cells, from various MDS subcategories, could demonstrate GATA-1 involvement in the pathogenesis of the syndrome. In this study, MDS patients displayed significantly elevated GATA-1 mRNA expression, in bone marrow mononuclear cells (BMMCs), progenitor CD34 + and erythroid CD71+ cells in contrast to the control population (P < < 0.001). Additionally, GATA-1 mRNA expression in MDS CD71+ cells was positively correlated with their apoptotic levels (r = 0.58, P = 0.03). Furthermore, GATA-1 expression levels were found to correlate with the disease progression. MDS patients in high/INT-2 IPSS risk group expressed significantly higher GATA-1 mRNA levels, in both CD34 + and CD71 + cells, as opposed to low/INT-1 patients (P < 0.001). Moreover, the former displayed increased apoptosis in the CD71 + cells and significantly reduced neutrophil and platelet numbers and hemoglobin levels compared with the latter. We conclude that MDS patients display an increase of GATA-1 mRNA expression in BM cells, with high/INT-2 patients showing significantly higher levels. The higher level of GATA-1 mRNA in erythroid cells was positively correlated with their degree of apoptosis. These findings suggest that the up-regulation of GATA-1 may be responsible for the peripheral cytopenias in MDS. Am. J. Hematol. 82:887-892, 2007.

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Section: Introductionsupporting

confidence: 90%

GATA‐1 transcription factor is up‐regulated in bone marrow hematopoietic progenitor CD34⁺ and erythroid CD71⁺ cells in myelodysplastic syndromes

2007

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“…The mechanism of TMD development or the progression to acute leukemia from TMD in DS is largely unknown [8]. However few molecular mechanisms that lead to TMD are being elucidated.…”

Section: Discussionmentioning

confidence: 99%

Down Syndrome with Transient Myeloproliferative Disorder and Beta-Thalassemia Major

Garg

Singh

Ramachandran

et al. 2014

Indian J Hematol Blood Transfus

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Down syndrome is the most common chromosomal abnormality and is frequently associated with transient myeloproliferative disorder (TMD) and leukaemias. The coinheritance of this syndrome with beta-thalassemia major is uncommon. Only two cases of coinheritance of Down syndrome with beta-thalassemia major have been published in literature. We report an infant suffering from Down syndrome who presented with severe anemia which was later attributed to beta-thalassemia major and TMD. The infant improved after blood transfusion and other supportive management. The blasts disappeared from marrow during hospital stay. In areas of high prevalence of beta-thalassemia heterozygotes, the presence of coinheritance of the mentioned condition with another congenital disorder may be common.

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NUP98 gene fusions in hematologic malignancies

Lam

Aplan

2001

Leukemia

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Acute leukemia is associated with a wide spectrum of recurrent, non-random chromosomal translocations. Molecular analysis of the genes involved in these translocations has led to a better understanding of both the causes of chromosomal rearrangements as well as the mechanisms of leukemic transformation. Recently, a number of laboratories have cloned translocations involving the NUP98 gene on chromosome 11p15.5, from patients with acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), chronic myelogenous leukemia (CML), and T cell acute lymphoblastic leukemia (T-ALL). To date, at least eight different chromosomal rearrangements involving NUP98 have been identified. The resultant chimeric transcripts encode fusion proteins that juxtapose the N-terminal GLFG repeats of NUP98 to the C-terminus of the partner gene. Of note, several of these translocations have been found in patients with therapy-related acute myelogenous leukemia (t-AML) or myelodysplastic syndrome (t-MDS), suggesting that genotoxic chemotherapeutic agents may play an important role in generating chromosomal rearrangements involving NUP98. Leukemia (2001) 15, 1689-1695.

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Down's syndrome with myelodysplastic syndrome showing t(7;11)(p13;p14)

Cited by 3 publications

References 21 publications

GATA‐1 transcription factor is up‐regulated in bone marrow hematopoietic progenitor CD34⁺ and erythroid CD71⁺ cells in myelodysplastic syndromes

GATA‐1 transcription factor is up‐regulated in bone marrow hematopoietic progenitor CD34⁺ and erythroid CD71⁺ cells in myelodysplastic syndromes

Down Syndrome with Transient Myeloproliferative Disorder and Beta-Thalassemia Major

NUP98 gene fusions in hematologic malignancies

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Down's syndrome with myelodysplastic syndrome showing t(7;11)(p13;p14)

Cited by 3 publications

References 21 publications

GATA‐1 transcription factor is up‐regulated in bone marrow hematopoietic progenitor CD34+ and erythroid CD71+ cells in myelodysplastic syndromes

GATA‐1 transcription factor is up‐regulated in bone marrow hematopoietic progenitor CD34+ and erythroid CD71+ cells in myelodysplastic syndromes

Down Syndrome with Transient Myeloproliferative Disorder and Beta-Thalassemia Major

NUP98 gene fusions in hematologic malignancies

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Product

Resources

About

GATA‐1 transcription factor is up‐regulated in bone marrow hematopoietic progenitor CD34⁺ and erythroid CD71⁺ cells in myelodysplastic syndromes

GATA‐1 transcription factor is up‐regulated in bone marrow hematopoietic progenitor CD34⁺ and erythroid CD71⁺ cells in myelodysplastic syndromes