Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation

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...

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Main Authors:	Lisa J. McReynolds, Yubo Zhang, Yanqin Yang, Jingrong Tang, Matthew Mulé, Amy P. Hsu, Danielle M. Townsley, Robert R. West, Jun Zhu, Dennis D. Hickstein, Steven M. Holland, Katherine R. Calvo, Christopher S. Hourigan
Format:	Article
Language:	English
Published:	Elsevier 2019-01-01
Series:	Leukemia Research Reports
Online Access:	http://www.sciencedirect.com/science/article/pii/S2213048919300093

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spelling	doaj-dc364928c4dd40daacaaa3cbd921ee222020-11-25T01:17:19ZengElsevierLeukemia Research Reports2213-04892019-01-0112Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutationLisa J. McReynolds0Yubo Zhang1Yanqin Yang2Jingrong Tang3Matthew Mulé4Amy P. Hsu5Danielle M. Townsley6Robert R. West7Jun Zhu8Dennis D. Hickstein9Steven M. Holland10Katherine R. Calvo11Christopher S. Hourigan12Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States; Corresponding author.DNA Sequencing and Genomics Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, United StatesDNA Sequencing and Genomics Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, United StatesHematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, United StatesHematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, United StatesLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United StatesHematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, United States; MedImmune, Gaithersburg, MD, United StatesExperimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United StatesDNA Sequencing and Genomics Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, United StatesExperimental Transplantation and Immunology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United StatesLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United StatesDepartment of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, United StatesHematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, United StatesGATA2 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.http://www.sciencedirect.com/science/article/pii/S2213048919300093
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Lisa J. McReynolds Yubo Zhang Yanqin Yang Jingrong Tang Matthew Mulé Amy P. Hsu Danielle M. Townsley Robert R. West Jun Zhu Dennis D. Hickstein Steven M. Holland Katherine R. Calvo Christopher S. Hourigan
spellingShingle	Lisa J. McReynolds Yubo Zhang Yanqin Yang Jingrong Tang Matthew Mulé Amy P. Hsu Danielle M. Townsley Robert R. West Jun Zhu Dennis D. Hickstein Steven M. Holland Katherine R. Calvo Christopher S. Hourigan Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation Leukemia Research Reports
author_facet	Lisa J. McReynolds Yubo Zhang Yanqin Yang Jingrong Tang Matthew Mulé Amy P. Hsu Danielle M. Townsley Robert R. West Jun Zhu Dennis D. Hickstein Steven M. Holland Katherine R. Calvo Christopher S. Hourigan
author_sort	Lisa J. McReynolds
title	Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation
title_short	Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation
title_full	Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation
title_fullStr	Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation
title_full_unstemmed	Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation
title_sort	rapid progression to aml in a patient with germline gata2 mutation and acquired nras q61k mutation
publisher	Elsevier
series	Leukemia Research Reports
issn	2213-0489
publishDate	2019-01-01
description	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.
url	http://www.sciencedirect.com/science/article/pii/S2213048919300093
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Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation

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