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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.