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

Stepensky Polina | Zendy; Brooks Rebecca | Zendy; Waldman Elisha | Zendy; RevelVilk Shoshana | Zendy; Izraeli Shai | Zendy; Resnick Igor | Zendy; Weintraub Michael | Zendy

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

Author(s) -

Stepensky Polina,

Brooks Rebecca,

Waldman Elisha,

RevelVilk Shoshana,

Izraeli Shai,

Resnick Igor,

Weintraub Michael

Publication year - 2010

Publication title -

pediatric blood and cancer

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.116

H-Index - 105

eISSN - 1545-5017

pISSN - 1545-5009

DOI - 10.1002/pbc.22331

Subject(s) - gata1 , medicine , down syndrome , trisomy , acute megakaryoblastic leukemia , leukemia , mutation , regimen , pediatrics , oncology , gene , genetics , anemia , biology , erythropoiesis , psychiatry

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. Pediatr Blood Cancer 2010;54:1048–1049 © 2010 Wiley‐Liss, Inc.

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