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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
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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.

Keywords

transient abnormal myelopoiesis - Down syndrome - GATA1 mutation - hyperleukocytosis


Publication History

Article published online:
20 September 2021

© 2021. Indian Society of Medical and Paediatric Oncology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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