Heritable GATA2 mutations associated with familial AML-MDS: A case report and review of literature

Juehua Gao*, Ryan D. Gentzler, Andrew E. Timms, Marshall S. Horwitz, Olga Frankfurt, Jessica K. Altman, Loann C. Peterson

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

24 Scopus citations


A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozygous missence mutations in the second zinc finger domain of GATA2 gene (p.Thr358Lys, and p.Leu359Val), occurring in cis on the same allele. Given the patient's family history and clinical manifestation, this was interpreted as an acute myeloid leukemia with heritable GATA2 mutations associated with familial AML-MDS. Germline GATA2 mutations are involved in a group of complex syndromes with overlapping clinical features of immune deficiency, lymphedema and propensity to acute myeloid leukemia or myelodysplastic syndrome (AML-MDS). Here we reported a case of familial AML-MDS with two novel GATA2 mutations. This case illustrates the importance of recognizing the clinical features for this rare category of AML-MDS and performing the appropriate molecular testing. The diagnosis of heritable gene mutations associated familial AML-MDS has significant clinical implication for the patients and affected families. Clinical trials are available to further investigate the role of allogeneic hematopoietic stem cell transplant in managing these patients.

Original languageEnglish (US)
Article number36
JournalJournal of Hematology and Oncology
Issue number1
StatePublished - Apr 22 2014


  • Familial acute myeloid leukemia-myelodysplastic syndrome
  • GATA2

ASJC Scopus subject areas

  • Molecular Biology
  • Hematology
  • Oncology
  • Cancer Research


Dive into the research topics of 'Heritable GATA2 mutations associated with familial AML-MDS: A case report and review of literature'. Together they form a unique fingerprint.

Cite this