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

Hadassah University Medical Centre
Sheba Medical Center at Tel Hashomer

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

UN SDGs

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

SDG 3 Good Health and Well-being

Keywords

Acute megakaryocytic leukemia
Down syndrome
GATA1 mutation

Access to Document

10.1002/pbc.22331

Cite this

@article{ade966f4a0d345dd978887c0a5ca5a73,

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

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.",

keywords = "Acute megakaryocytic leukemia, Down syndrome, GATA1 mutation",

author = "Polina Stepensky and Rebecca Brooks and Elisha Waldman and Shoshana Revel-Vilk and Shai Izraeli and Igor Resnick and Michael Weintraub",

year = "2010",

month = jul,

day = "1",

doi = "10.1002/pbc.22331",

language = "אנגלית",

volume = "54",

pages = "1048--1049",

journal = "Pediatric Blood and Cancer",

issn = "1545-5009",

publisher = "Wiley-Liss Inc.",

number = "7",

}

TY - JOUR

T1 - A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21

AU - Stepensky, Polina

AU - Brooks, Rebecca

AU - Waldman, Elisha

AU - Revel-Vilk, Shoshana

AU - Izraeli, Shai

AU - Resnick, Igor

AU - Weintraub, Michael

PY - 2010/7/1

Y1 - 2010/7/1

N2 - 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.

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.

KW - Acute megakaryocytic leukemia

KW - Down syndrome

KW - GATA1 mutation

UR - https://www.scopus.com/pages/publications/77951565251

U2 - 10.1002/pbc.22331

DO - 10.1002/pbc.22331

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 20108342

AN - SCOPUS:77951565251

SN - 1545-5009

VL - 54

SP - 1048

EP - 1049

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 7

ER -

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

Abstract

UN SDGs

Keywords

Access to Document

Other files and links

Fingerprint

Cite this