Autopsy case of a stillbirth with transient abnormal myelopoiesis associated with Down syndrome: Immunohistochemical demonstration of GATA1 mutation in placental tissues.

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  • Additional Information
    • Source:
      Publisher: Published by Blackwell Scientific Publications for the Japanese Society of Pathology Country of Publication: Australia NLM ID: 9431380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1827 (Electronic) Linking ISSN: 13205463 NLM ISO Abbreviation: Pathol Int Subsets: MEDLINE
    • Publication Information:
      Original Publication: Carlton South, Vic., Australia : Published by Blackwell Scientific Publications for the Japanese Society of Pathology, c1994-
    • Subject Terms:
      Down Syndrome*/pathology ; Down Syndrome*/genetics ; Down Syndrome*/complications ; GATA1 Transcription Factor*/genetics ; GATA1 Transcription Factor*/metabolism ; Placenta*/pathology ; Placenta*/metabolism ; Stillbirth*/genetics ; Autopsy* ; Mutation* ; Leukemoid Reaction*/genetics ; Leukemoid Reaction*/pathology ; Immunohistochemistry*; Humans ; Female ; Pregnancy ; Adult
    • Abstract:
      Transient abnormal myelopoiesis (TAM) in neonates with Down syndrome (DS) exhibits hematological features that are indistinguishable from those of acute megakaryoblastic leukemia. However, TAM typically resolves spontaneously within several months postnatally. Some patients with TAM, however, develop severe clinical manifestations, which can lead to an unfavorable prognosis. TAM originates in utero through the acquisition of somatic GATA1 mutations, resulting in the loss of the full-length GATA1 protein and excessive production of the N-terminal truncated short isoform of the GATA1 protein (GATA1s). Herein, we report the pathological findings from an autopsy of a female stillbirth with TAM and DS, including an examination of her placental tissues. Immunohistochemical analysis revealed the expression of GATA1s, but not full-length GATA1, in CD42b-positive atypical immature megakaryocytes and blasts in the placental blood vessels. This confirms the diagnosis of TAM and suggests the utility of placental tissue for histological diagnosis. Additional unique findings from the autopsy specimens are discussed.
      (© 2024 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.)
    • References:
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    • Contributed Indexing:
      Keywords: Down syndrome; GATA1; acute megakaryoblastic leukemia; autopsy; immunohistochemistry; infant; placenta; stillbirth; transient abnormal myelopoiesis
    • Accession Number:
      0 (GATA1 Transcription Factor)
      0 (GATA1 protein, human)
    • Subject Terms:
      Myeloproliferative Syndrome, Transient
    • Publication Date:
      Date Created: 20241202 Date Completed: 20241212 Latest Revision: 20241212
    • Publication Date:
      20241212
    • Accession Number:
      10.1111/pin.13497
    • Accession Number:
      39620384