A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21.
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.
Stepensky
Polina
P
Department of Pediatric Hematology-Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel. polina@hadassah.org.il
Brooks
Rebecca
R
Waldman
Elisha
E
Revel-Vilk
Shoshana
S
Izraeli
Shai
S
Resnick
Igor
I
Weintraub
Michael
M
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
D000970:Antineoplastic Agents; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human