A case of well-documented and illustrated megakaryoblastic transformation in a patient with chronic granulocytic leukemia is presented. The salient features of this case were the presence of megakaryoblasts in the peripheral blood and bone marrow and characteristic cytochemical and electron microscopic findings. In addition, the authors observed an unusual, previously unreported, similarity of the abnormal platelets with those described in the Gray platelet syndrome. A literature review of the 13 previously described cases is included.
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http://dx.doi.org/10.1093/ajcp/84.2.228 | DOI Listing |
Mol Cancer
September 2024
Commissariat À L'Energie Atomique Et Aux Energies Alternatives (CEA), Université Paris Cité, Institut National de La Santé Et de La Recherche Médicale (INSERM), Stabilité Génétique Cellules Souches Et Radiations, Fontenay-Aux-Roses, F-92260, France.
JCI Insight
October 2023
Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Patients with Down syndrome (DS), or trisomy 21 (T21), are at increased risk of transient abnormal myelopoiesis (TAM) and acute megakaryoblastic leukemia (ML-DS). Both TAM and ML-DS require prenatal somatic mutations in GATA1, resulting in the truncated isoform GATA1s. The mechanism by which individual chromosome 21 (HSA21) genes synergize with GATA1s for leukemic transformation is challenging to study, in part due to limited human cell models with wild-type GATA1 (wtGATA1) or GATA1s.
View Article and Find Full Text PDFPLoS One
September 2023
Department of Hematology, Metropolitan Research and Treatment Centre for Blood Disorders (MRTC Japan), Tokyo, Japan.
Objectives: In myelodysplastic syndromes (MDS), neoplastic myeloblast (CD34+CD13+CD33+ cells) numbers often increase over time, leading to secondary acute myeloid leukemia (AML). In recent studies, blasts in some MDS patients have been found to express a megakaryocyte-lineage molecule, CD41, and such patients show extremely poor prognosis. This is the first study to evaluate whether myeloblasts transition to CD41+ blasts over time and to investigate the detailed immunophenotypic features of CD41+ blasts in MDS.
View Article and Find Full Text PDFJ Clin Invest
November 2022
Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
The CBFA2T3-GLIS2 (C/G) fusion is a product of a cryptic translocation primarily seen in infants and early childhood and is associated with dismal outcome. Here, we demonstrate that the expression of the C/G oncogenic fusion protein promotes the transformation of human cord blood hematopoietic stem and progenitor cells (CB HSPCs) in an endothelial cell coculture system that recapitulates the transcriptome, morphology, and immunophenotype of C/G acute myeloid leukemia (AML) and induces highly aggressive leukemia in xenograft models. Interrogating the transcriptome of C/G-CB cells and primary C/G AML identified a library of C/G-fusion-specific genes that are potential targets for therapy.
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