Detection of transient abnormal myelopoiesis blasts in a liver biopsy specimen by double-immunostaining for full-length GATA1 and CD42b

Abstract

Background: Transient abnormal myelopoiesis (TAM) is characterized by leukocytosis with increased circulating megakaryoblasts that harbor N-terminal truncating mutations in the GATA1 gene. Approximately 10% of affected patients experience early death.

Observations: A 2-month-old boy with Down syndrome was diagnosed with TAM and followed without treatment. Although the blasts in the peripheral blood disappeared, liver failure progressed. A pathological examination revealed liver fibrosis, and double-immunostaining for full-length GATA1 and CD42b identified megakaryocytes with a GATA1 mutation.

Conclusions: This simple and cost-effective method can be applied in routine practice to detect TAM blasts during assessment in a TAM crisis.

Keywords: Down syndrome; GATA-binding factor 1; Liver fibrosis; Transient leukemia of Down syndrome; Transient myeloproliferative disorder.