We report a case of transient myeloproliferative disorder (TMD) that occurred in a phenotypically normal infant with low level constitutional mosaicism of i(21q). To the best of our knowledge, this is the first documented case of TMD with constitutional i(21q) mosaicism.
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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 PDFAutopsy case of a stillbirth with transient abnormal myelopoiesis associated with Down syndrome: Immunohistochemical demonstration of GATA1 mutation in placental tissues.
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December 2024
Department of Obstetrics and Gynecology, Saiseikai Kawaguchi General Hospital, Kawaguchi, Japan.
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- Some cases of TAM can lead to severe health issues, impacting the patient's prognosis negatively.
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Diagnosis and Treatment of Polycythemia Vera: A Review.
JAMA
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Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
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Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS: Distinguishing TAM-DS and ML-DS: Report of 4 Cases.
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Rouen University Hospital, Department of Biological Hematology, Rouen 76000, France.
Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. Transient abnormal myelopoiesis (TAM) and myeloid-leukemia associated with Down syndrome (ML-DS) are two conditions that need to be accurately diagnosed to provide appropriate management. Both TAM and ML-DS are characterized by proliferation of megakaryoblasts carrying a mutation in the GATA1 gene.
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Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.
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