A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21

Polina Stepensky; Rebecca Brooks; Elisha Waldman; Shoshana Revel-Vilk; Shai Izraeli; Igor Resnick; Michael Weintraub

doi:10.1002/pbc.22331

A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21

Polina Stepensky^*, Rebecca Brooks, Elisha Waldman, Shoshana Revel-Vilk, Shai Izraeli, Igor Resnick, Michael Weintraub

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

Children with Down syndrome (DS) have a unique form of acute megakaryocytic leukemia (AMKL) characterized by the presence of mutations in the GATA1 gene leading to increased chemosensitivity and a favorable outcome. We describe an 8-month-old male with DS who was diagnosed with AMKL without a mutation in the GATA1 gene. The patient was treated according to the DS-AML-regimen but his disease progressed and he succumbed 9 months later. This rare case of DS AMKL without a GATA1 mutation with an unfavorable outcome suggests that GATA1 testing may play a useful role in initial stratification.

Original language	English
Pages (from-to)	1048-1049
Number of pages	2
Journal	Pediatric Blood and Cancer
Volume	54
Issue number	7
DOIs	https://doi.org/10.1002/pbc.22331
State	Published - 1 Jul 2010
Externally published	Yes

Keywords

Acute megakaryocytic leukemia
Down syndrome
GATA1 mutation

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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abstract = "Children with Down syndrome (DS) have a unique form of acute megakaryocytic leukemia (AMKL) characterized by the presence of mutations in the GATA1 gene leading to increased chemosensitivity and a favorable outcome. We describe an 8-month-old male with DS who was diagnosed with AMKL without a mutation in the GATA1 gene. The patient was treated according to the DS-AML-regimen but his disease progressed and he succumbed 9 months later. This rare case of DS AMKL without a GATA1 mutation with an unfavorable outcome suggests that GATA1 testing may play a useful role in initial stratification.",

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AU - Revel-Vilk, Shoshana

AU - Izraeli, Shai

AU - Resnick, Igor

AU - Weintraub, Michael

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AB - Children with Down syndrome (DS) have a unique form of acute megakaryocytic leukemia (AMKL) characterized by the presence of mutations in the GATA1 gene leading to increased chemosensitivity and a favorable outcome. We describe an 8-month-old male with DS who was diagnosed with AMKL without a mutation in the GATA1 gene. The patient was treated according to the DS-AML-regimen but his disease progressed and he succumbed 9 months later. This rare case of DS AMKL without a GATA1 mutation with an unfavorable outcome suggests that GATA1 testing may play a useful role in initial stratification.

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A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21

Abstract

Keywords

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