title: Transient abnormal myelopoiesis of a newborn not associated with chromosome 21 abnormalities or GATA1 mutations.
abstract: Transient abnormal myelopoiesis (TAM) is a disorder of Down syndrome newborns characterized by megakaryocytic blasts indistinguishable from acute myeloid leukemia (AML), which undergoes spontaneous remission. Acquired GATA1 mutations are present in blasts of both TAM and the subsequent AML which sometimes develops. We present a unique case of a newborn with leukemic megakaryoblasts indistinguishable from those of TAM who had neither extra material from chromosome 21 in the germline or blasts, nor evidence of GATA1 mutations. These findings suggest there are other genetic abnormalities that can lead to TAM besides GATA1 mutation in the setting of trisomy 21. Pediatr Blood Cancer 2015;62:353-355. © 2014 Wiley Periodicals, Inc.
authors.affiliation: Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, 44195, Ohio.
authors.forename: Megan O
authors.initials: MO
authors.lastname: Nakashima
authors.affiliation: Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, 44195, Ohio.
authors.forename: Shashirekha
authors.initials: S
authors.lastname: Shetty
authors.affiliation: Prevention Genetics, Marshfield, Wisconsin.
authors.forename: Michael
authors.initials: M
authors.lastname: Chicka
authors.affiliation: Pediatric Institute, Cleveland Clinic, Cleveland, Ohio.
authors.forename: Aron
authors.initials: A
authors.lastname: Flagg
authors.affiliation: Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
authors.forename: Charis
authors.initials: C
authors.lastname: Eng
authors.affiliation: Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, 44195, Ohio.
authors.forename: Claudiu V
authors.initials: CV
authors.lastname: Cotta
mesh_terms: D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics*; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007955:Leukemoid Reaction / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis
chemical_list: D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human
keywords: infant leukemia; leukemia; pediatric hematology/oncology; transient abnormal myelopoiesis