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

被引：0

作者：

Ramachandran, Mohanaraj ^{[1
]}

Srinivasan, Prasanth ^{[1
]}

Meena, Jagdish Prasad ^{[1
]}

Gupta, Aditya Kumar ^{[1
]}

Prasad, Tanya ^{[2
]}

Seth, Rachna ^{[1
]}

机构：

[1] All India Inst Med Sci, Div Pediat Oncol, Dept Pediat, New Delhi 110029, India

[2] All India Inst Med Sci, Dr BRA IRCH, Lab Oncol Unit, New Delhi, India

来源：

INDIAN JOURNAL OF MEDICAL AND PAEDIATRIC ONCOLOGY | 2021年 / 42卷 / 03期

关键词：

transient abnormal myelopoiesis; Down syndrome; GATA1; mutation; hyperleukocytosis; POPULATION; LEUKEMIA;

D O I：

10.1055/s-0041-1732860

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：301 / 304

页数：4

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