MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations

Lisa J. McReynolds, Yanqin Yang, Hong Yuen Wong, Jingrong Tang, Yubo Zhang, Matthew P. Mulé, Janine Daub, Cindy Palmer, Ladan Foruraghi, Qingguo Liu, Jun Zhu, Weixin Wang, Robert R. West, Marielle E. Yohe, Amy P. Hsu, Dennis D. Hickstein, Danielle M. Townsley, Steven M. Holland, Katherine R. Calvo, Christopher S. Hourigan

Research output: Contribution to journalArticlepeer-review


Germline mutation in GATA2 can lead to GATA2 deficiency characterized by a complex multi-system disorder that can present with many manifestations including variable cytopenias, bone marrow failure, myelodysplastic syndrome/acute myeloid leukemia (MDS/AML), and severe immunodeficiency. Penetrance and expressivity within families is often variable. There is a spectrum of bone marrow disease in symptomatic cytopenic patients ranging from hypocellular marrows without overt dysplasia to those with definitive MDS, AML, or chronic myelomonocytic leukemia. Relatives of probands with the same mutations may demonstrate minimal disease manifestations and normal marrows. A comprehensive clinical, hematological and genetic assessment of 25 patients with germline GATA2 mutation was performed. MDS-associated mutations were identified in symptomatic GATA2 patients both with overt MDS and in those with hypocellular/aplastic bone marrows without definitive dysplasia. Healthy relatives of probands harboring the same germline GATA2 mutations had essentially normal marrows that were overall devoid of MDS-associated mutations. The findings suggest that abnormal clonal hematopoiesis is a common event in symptomatic germline mutated GATA2 patients with MDS and also in those with hypocellular marrows without overt morphologic evidence of dysplasia, possibly indicating a pre-MDS stage warranting close monitoring for disease progression.

Original languageEnglish (US)
Pages (from-to)70-75
Number of pages6
JournalLeukemia Research
StatePublished - Jan 2019
Externally publishedYes


  • bone marrow failure
  • cytogenetics
  • immunodeficiencies
  • infectious diseases
  • molecular genetics
  • myelodysplastic syndrome

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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