title: Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature.
abstract: Germline GATA2 mutations have been associated with a vast array of clinical manifestations, as well as hematological deficiencies and a propensity to AML or MDS. We present two cases of pediatric AML/MDS with underlying GATA2 mutations who underwent a successful umbilical cord hematopoietic stem cell transplantation using two different conditioning regimens. These cases illustrate the importance of recognizing the clinical features associated with GATA2 mutations and performing the appropriate molecular testing. Diagnosis of heritable gene mutations associated with familial AML/MDS has significant clinical implication for the patients and affected families.
authors.affiliation: Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Kanwaldeep
authors.initials: K
authors.lastname: Mallhi
authors.affiliation: Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: David B
authors.initials: DB
authors.lastname: Dix
authors.affiliation: Department of Medical Genetics, Provincial Medical Genetics Program, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Karen Y
authors.initials: KY
authors.lastname: Niederhoffer
authors.affiliation: Department of Medical Genetics, Provincial Medical Genetics Program, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Linlea
authors.initials: L
authors.lastname: Armstrong
authors.affiliation: Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada. jrozmus@cw.bc.ca.
authors.forename: Jacob
authors.initials: J
authors.lastname: Rozmus
mesh_terms: D000293:Adolescent; D002648:Child; D036101:Cord Blood Stem Cell Transplantation / Q000379:methods*; D050989:GATA2 Transcription Factor / Q000235:genetics*; D057895:Haploinsufficiency; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000628:therapy*; D008297:Male; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000628:therapy*; D019172:Transplantation Conditioning; D016896:Treatment Outcome
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human
keywords: GATA2; acute myeloid leukemia; hematopoietic stem cell transplantation; myelodysplastic syndrome; pediatrics; umbilical cord