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.
authors.affiliation: Department of Pediatric Hematology-Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel. polina@hadassah.org.il
authors.forename: Polina
authors.initials: P
authors.lastname: Stepensky
authors.forename: Rebecca
authors.initials: R
authors.lastname: Brooks
authors.forename: Elisha
authors.initials: E
authors.lastname: Waldman
authors.forename: Shoshana
authors.initials: S
authors.lastname: Revel-Vilk
authors.forename: Shai
authors.initials: S
authors.lastname: Izraeli
authors.forename: Igor
authors.initials: I
authors.lastname: Resnick
authors.forename: Michael
authors.initials: M
authors.lastname: Weintraub
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D004314:Down Syndrome / Q000150:complications*; D019008:Drug Resistance, Neoplasm; D017809:Fatal Outcome; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007223:Infant; D007947:Leukemia, Megakaryoblastic, Acute / Q000150:complications* / Q000188:drug therapy; D008297:Male; D009154:Mutation
chemical_list: D000970:Antineoplastic Agents; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human