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

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

doi:10.1016/j.lrr.2019.100176

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

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English (US)
Article number	100176
Journal	Leukemia Research Reports
Volume	12
DOIs	https://doi.org/10.1016/j.lrr.2019.100176
State	Published - 2019

ASJC Scopus subject areas

Hematology
Oncology

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McReynolds, L. J., Zhang, Y., Yang, Y., Tang, J., Mulé, M., Hsu, A. P., Townsley, D. M., West, R. R., Zhu, J., Hickstein, D. D., Holland, S. M., Calvo, K. R., & Hourigan, C. S. (2019). Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation. Leukemia Research Reports, 12, Article 100176. https://doi.org/10.1016/j.lrr.2019.100176

@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 = "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",

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TY - JOUR

T1 - Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation

AU - McReynolds, Lisa J.

AU - Zhang, Yubo

AU - Yang, Yanqin

AU - Tang, Jingrong

AU - Mulé, Matthew

AU - Hsu, Amy P.

AU - Townsley, Danielle M.

AU - West, Robert R.

AU - Zhu, Jun

AU - Hickstein, Dennis D.

AU - Holland, Steven M.

AU - Calvo, Katherine R.

AU - Hourigan, Christopher S.

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

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DO - 10.1016/j.lrr.2019.100176

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SN - 2213-0489

VL - 12

JO - Leukemia Research Reports

JF - Leukemia Research Reports

M1 - 100176

ER -

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

Abstract

ASJC Scopus subject areas

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