Send to

Choose Destination
Int J Hematol. 2017 Aug;106(2):175-182. doi: 10.1007/s12185-017-2285-2. Epub 2017 Jun 22.

Heterogeneity of GATA2-related myeloid neoplasms.

Author information

Department of Pediatrics, St. Luke's InternationalHospital, 9-1, Akashi-cho, Chuo-ku, Tokyo, 1048560, Japan.
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
German Cancer Consortium (DKTK), Freiburg, Germany.
German Cancer Research Center (DKFZ), Heidelberg, Germany.
Faculty of Biology, University of Freiburg, Freiburg, Germany.


The GATA2 gene codes for a master hematopoietic transcription factor that is essential for the proliferation and maintenance of hematopoietic stem and progenitor cells. Heterozygous germline mutations in GATA2 have been initially associated with several clinical entities that are now collectively defined as GATA2 deficiency. Despite pleiotropic clinical manifestations, the high propensity for the development of myelodysplastic syndromes (MDS) constitutes the most common clinical denominator of this major MDS predisposition syndrome. The immunological phenotypes can be variable and mostly include deficiency of monocytes and/or B cells. Thus far, nearly 380 GATA2-deficient patients had been reported, with a roughly estimated prevalence of myeloid neoplasia of at least 75%. The most common abnormal karyotypes associated with GATA2-related MDS are monosomy 7, der(1;7) and trisomy 8. The overall clinical penetrance seems to be nearly complete for this transcriptopathy disorder. The high-risk MDS subtypes and karyotypes, and the underlying immunodeficiency guide decision-making toward timely stem cell transplantation.


Familial MDS; GATA2; Germline predisposition

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center