Transient abnormal myelopoiesis with extramedullary involvement in a down syndrome preemie leading to an unresponsive course despite chemotherapy.

Saroja Devi Geetha, Ram Singh, Meira Shaham, Ninette Cohen, Kristin Sticco

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Article in Leukemia research reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors.

Saroja Devi GeethaDepartment of Pathology and Laboratory Medicine, North Shore University Hospital and Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, 2200 Northern Blvd, Suite 104, Greenvale, NY 11548, United States.

Ram SinghCytogenetics Laboratory, Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, United States.

Meira ShahamCytogenetics Laboratory, Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, United States.

Ninette CohenCytogenetics Laboratory, Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, United States.

Kristin SticcoDepartment of Pathology and Laboratory Medicine, North Shore University Hospital and Long Island Jewish Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, 2200 Northern Blvd, Suite 104, Greenvale, NY 11548, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Transient abnormal myelopoiesis (TAM) is a transient, clonal myeloproliferative disorder unique to Down Syndrome (DS) babies. It is characterized by increased peripheral blasts and presence of Case report: A 30.3-week-old female fetus with DS had leukocytosis (WBC: 187.82 K/uL) with neutrophilia (ANC 27.65 K/uL), macrocytic anemia (RBC: 2.41 m/uL, Hb 8.8 g/dL, MCV 108.3, MCH 36.5, MCHC 33.7) and thrombocytosis (platelet count 361 K/uL) at birth. Liver panels demonstrated normal bilirubin levels with elevated liver enzymes (AST = 239 U/L, ALT = 216 U/L). Results: Peripheral smear showed marked leukocytosis with increased blasts (70%), nucleated RBCs, giant platelets, and megakaryocytic elements. Flow cytometry demonstrated two populations of cells: 20% myeloblasts and 26% dim CD45 CD34- cells. Discussion: TAM is a transient condition resulting in disease resolution in around 80% of cases. Death is reported in 10% of cases. Risk factors associated with early death include prematurity, hyperleukocytosis, elevated bilirubin levels. Management of high-risk babies with chemotherapy is recommended to improve survival.

Indexed as

Down syndromeGATA1 mutationLeukemia in Down syndromeMegakaryoblastic leukemiaTransient abnormal myelopoiesisTransient leukemiaTransient myeloproliferative disorder

Identifiers

PMID37560406

DOI10.1016/j.lrr.2023.100381

PMCPMC10407260

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