@article{e4f62fb38287456d98e1dd1e553bd1c8,
title = "Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation",
abstract = "GATA2 deficiency syndrome is caused by autosomal dominant, heterozygous germline mutations with widespread effects on immune, pulmonary and vascular systems. Patients commonly develop hematological abnormalities including bone marrow failure, myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). We present a patient with GATA2 mutation and MDS who progressed to AML over four months. Whole exome and targeted deep sequencing identified a new p.Q61K NRAS mutation in the bone marrow at the time of AML development. Rapid development of AML is possible in the setting of germline GATA2 mutation despite stable MDS, supporting close monitoring and consideration of early allogeneic transplantation.",
author = "McReynolds, {Lisa J.} and Yubo Zhang and Yanqin Yang and Jingrong Tang and Matthew Mul{\'e} and Hsu, {Amy P.} and Townsley, {Danielle M.} and West, {Robert R.} and Jun Zhu and Hickstein, {Dennis D.} and Holland, {Steven M.} and Calvo, {Katherine R.} and Hourigan, {Christopher S.}",
note = "Funding Information: The authors would like to thank the clinical staff at the NIH Clinical Center for their care of this and other GATA2 deficiency patients. This case was presented at the American Society of Hematology 2015 Annual Meeting [27] and as part of a cohort [18]. This work was supported by the Intramural Research Program of the National Heart, Lung and Blood Institute, the National Institute of Allergy and Infectious Diseases, the National Cancer Institute and the Clinical Center of the National Institutes of Health. L.J.M. Y.Z. Y.Y. J.T. M.M. A.P.H. and J.Z. performed experiments, performed analysis and made figures; K.R.C. and C.S.H. performed analysis and made figures; L.J.M. R.R.W. D.M.T. D.D.H. S.M.H. K.R.C. and C.S.H. designed the research; L.J.M. K.R.C. and C.S.H. wrote the manuscript. All authors reviewed the manuscript. C.S.H.{\textquoteright}s research laboratory receives research funding from Merck and Sellas. The remaining authors declare no conflicts of interest. D.T is now an employee of MedImmune, this work done while at NIH without conflicts. Funding Information: The authors would like to thank the clinical staff at the NIH Clinical Center for their care of this and other GATA2 deficiency patients. This case was presented at the American Society of Hematology 2015 Annual Meeting [27] and as part of a cohort [18] . This work was supported by the Intramural Research Program of the National Heart, Lung and Blood Institute, the National Institute of Allergy and Infectious Diseases , the National Cancer Institute and the Clinical Center of the National Institutes of Health. Publisher Copyright: {\textcopyright} 2019",
year = "2019",
doi = "10.1016/j.lrr.2019.100176",
language = "English (US)",
volume = "12",
journal = "Leukemia Research Reports",
issn = "2213-0489",
publisher = "Elsevier Limited",
}