CC BY-NC-ND 4.0 · Indian J Med Paediatr Oncol 2021; 42(03): 301-304
DOI: 10.1055/s-0041-1732860
Case Report with Review of Literature

Transient Abnormal Myelopoiesis with a Novel GATA1 Mutation in a Child with Down Syndrome: A Case Report and Brief Review

Mohanaraj Ramachandran
1   Department of Pediatrics, Division of Pediatric Oncology, All India Institute of Medical Sciences, New Delhi, India
,
Prasanth Srinivasan
1   Department of Pediatrics, Division of Pediatric Oncology, All India Institute of Medical Sciences, New Delhi, India
,
Jagdish Prasad Meena
1   Department of Pediatrics, Division of Pediatric Oncology, All India Institute of Medical Sciences, New Delhi, India
,
Aditya Kumar Gupta
1   Department of Pediatrics, Division of Pediatric Oncology, All India Institute of Medical Sciences, New Delhi, India
,
Tanya Prasad
2   Laboratory Oncology Unit, Dr. B. R. A. IRCH, All India Institute of Medical Sciences, New Delhi, India
,
Rachna Seth
1   Department of Pediatrics, Division of Pediatric Oncology, All India Institute of Medical Sciences, New Delhi, India
› Author Affiliations
Funding None
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Abstract

Transient abnormal myelopoiesis (TAM) is a unique entity seen in children with Down syndrome (DS) with 10 to 20% risk of developing myeloid leukemia in the first 5 years of life. We report a 2 months old male infant with DS detected to have hyperleukocytosis on routine preoperative workup for cyanotic congenital heart disease. Peripheral blood and bone marrow aspiration showed blasts, and next-generation sequencing detected a novel GATA1 mutation, and a diagnosis of TAM was confirmed in this child. This mutation has not been reported in TAM in the literature earlier to the best of our knowledge.



Publication History

Article published online:
20 September 2021

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