Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM). Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31.1-5q31.3 and 8q23.2q24).
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Post-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.
Ann Hematol
December 2024
Division of Hematology, Department of Medicine, Keio University School of Medicine, Tokyo, Japan.
Transient abnormal myelopoiesis (TAM) generally affects newborns with Down syndrome and is associated with constitutional trisomy 21 and a somatic GATA1 mutation. Here we describe a case of TAM which evolved after umbilical cord blood transplantation (UCBT), whose origin was identified as a GATA1 mutation-harboring clone in umbilical cord blood (UCB) by detailed genetic analyses. A 58-year-old male who received UCBT for peripheral T-cell lymphoma presented progressive anemia and thrombocytopenia, and leukocytosis with blast cells in the peripheral blood (PB).
View Article and Find Full Text PDFExtreme thrombocytosis negative for GATA1 mutation in an infant with trisomy 21.
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December 2024
Department of Pediatrics, The Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
Prenatal Manifestation of Transient Abnormal Myelopoiesis: Case Report and Review of the Literature.
J Clin Med
August 2024
I Department of Obstetrics and Gynecology, Medical University of Warsaw, 02-091 Warsaw, Poland.
Article Synopsis
- - This text discusses a rare case of transient abnormal myelopoiesis (TAM), a hematologic disorder usually seen in babies with trisomy 21, identified in a newborn with a normal karyotype.
- - The case involved a pregnant woman who presented with reduced fetal movements and was found to have indicators of fetal distress, prompting an emergency cesarean section that resulted in the delivery of a female newborn with notable blood abnormalities.
- - The study emphasizes the importance for obstetricians to recognize signs like elevated middle cerebral artery peak systolic velocity and hepatosplenomegaly, which could indicate fetal blood disorders, and distinguishes these from other conditions like infections or isoimmunization.
Down syndrome-associated leukaemias: current evidence and challenges.
Ther Adv Hematol
July 2024
Kids Cancer Centre, Sydney Children's Hospital, Level 1 South Wing, High Street, Randwick, NSW 2031, Australia.
Children with Down syndrome (DS) are at increased risk of developing haematological malignancies, in particular acute megakaryoblastic leukaemia and acute lymphoblastic leukaemia. The microenvironment established by abnormal haematopoiesis driven by trisomy 21 is compounded by additional genetic and epigenetic changes that can drive leukaemogenesis in patients with DS. GATA-binding protein 1 () somatic mutations are implicated in the development of transient abnormal myelopoiesis and the progression to myeloid leukaemia of DS (ML-DS) and provide a model of the multi-step process of leukaemogenesis in DS.
View Article and Find Full Text PDFGATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
Adv Exp Med Biol
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Department of Pediatrics, Division of Hematology, University of Pennsylvania Perelman School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
GATA1 is a highly conserved hematopoietic transcription factor (TF), essential for normal erythropoiesis and megakaryopoiesis, that encodes a full-length, predominant isoform and an amino (N) terminus-truncated isoform GATA1s. It is consistently expressed throughout megakaryocyte development and interacts with its target genes either independently or in association with binding partners such as FOG1 (friend of GATA1). While the N-terminus and zinc finger have classically been demonstrated to be necessary for the normal regulation of platelet-specific genes, murine models, cell-line studies, and human case reports indicate that the carboxy-terminal activation domain and zinc finger also play key roles in precisely controlling megakaryocyte growth, proliferation, and maturation.
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