1.
J Pediatr Hematol Oncol
; 43(2): e292-e295, 2021 03 01.
Article
in English
| MEDLINE
| ID: mdl-31876781
ABSTRACT
Transient abnormal myelopoiesis is a transient myeloproliferative disorder seen in â¼15% to 20% of infants with Down syndrome. These infants are usually asymptomatic, requiring only monitoring, but they can have variable severity of symptoms up to multisystemic dysfunction requiring chemotherapy. GATA-1 somatic mutations acquired in utero are pathognomic of this entity and present nearly in all cases. Herein, we present a case of Down syndrome in a neonate who presented within her first week of life with life-threatening features of transient abnormal myelopoiesis requiring chemotherapy support. In addition, next-generation sequencing revealed a small mutant clone (8%) positive for a novel frameshift GATA-1 mutation.