Unique Myeloid Leukemias in Young Children with Down Syndrome: Cell Origin, Association with Hematopoietic Microenvironment and Leukemogenesis

Miyauchi, Jun

doi:10.5772/17994

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Follow-up and Outcome1

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2021

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Cited by 1 publication

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References 97 publications

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“…Normal GATA1 protein consists of three domains: an N-terminal zinc finger domain, a C-terminal zinc finger domain, and a transcriptional activation domain N-terminal portion. 11 The normal GATA1 gene consists of 6 exons. Inherited mutations of GATA1 can lead to X-linked thrombocytopenia, X-linked thrombocytopenia with thalassemia, and some forms of congenital erythropoietic porphyria.…”

Section: Follow-up and Outcomementioning

confidence: 99%

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

Ramachandran

Srinivasan

Meena

et al. 2021

Indian J Med Paediatr Oncol

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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.

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Section: Follow-up and Outcomementioning

confidence: 99%