Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia

C N Hahn; P J Brautigan; C-E Chong; A Janssan; P Venugopal; Y Lee; A E Tims; M S Horwitz; M Klingler-Hoffmann; H S Scott

doi:10.1038/leu.2015.40

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia

Leukemia. 2015 Aug;29(8):1795-7. doi: 10.1038/leu.2015.40. Epub 2015 Feb 13.

Authors

C N Hahn¹, P J Brautigan², C-E Chong², A Janssan³, P Venugopal³, Y Lee⁴, A E Tims⁵, M S Horwitz⁶, M Klingler-Hoffmann³, H S Scott⁷

Affiliations

¹ 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
² 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
³ 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.
⁴ 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, South Australia, Australia.
⁵ 1] Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA [2] Seattle Children's Research Institute, Seattle, WA, USA.
⁶ Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA.
⁷ 1] Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia [2] Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia [3] School of Medicine, University of Adelaide, Adelaide, South Australia, Australia [4] School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia [5] School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, South Australia, Australia [6] ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia.

PMID: 25676417
DOI: 10.1038/leu.2015.40

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Blotting, Western
Female
GATA2 Transcription Factor / genetics*
Germ-Line Mutation / genetics*
HEK293 Cells
Humans
Leukemia, Myeloid, Acute / genetics*
Leukemia, Myeloid, Acute / pathology
Male
Middle Aged
Myelodysplastic Syndromes / genetics*
Myelodysplastic Syndromes / pathology
Pedigree
Response Elements / genetics*
Thrombocytopenia / genetics*
Thrombocytopenia / pathology

Substances

GATA2 Transcription Factor