GATA2 Deficiency Early identification for improved clinical outcomes

被引:4
|
作者
Cole, Kristen [1 ]
Avila, Daniele N. [2 ]
Parta, Mark [3 ]
Schuver, Bazetta Blacklock [1 ]
Holland, Steven M. [4 ]
Shah, Nirali [5 ]
Hickstein, Dennis [6 ]
机构
[1] NCI, Off Clin Director, Ctr Canc Res, NIH, Bethesda, MD 20892 USA
[2] NCI, Expt Transplantat & Immunol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA
[3] NCI, Clin Monitoring Res Program Directorate, Frederick Natl Lab Canc Res, NIH, Bethesda, MD 20892 USA
[4] NIAID, Div Intramural Res, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA
[5] NIH, Pediat Oncol Branch, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA
[6] NIH, Expt Transplantat & Immunol Branch, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA
基金
美国国家卫生研究院;
关键词
GATA2; deficiency; myelodysplastic syndrome; acute myeloid leukemia; SPORADIC MONOCYTOPENIA; AUTOSOMAL-DOMINANT; CELL; MYELODYSPLASIA; MUTATIONS; PEDIGREE; DISORDER; GENETICS; NURSES;
D O I
10.1188/19.CJON.417-422
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
BACKGROUND: Patients with GATA2 deficiency present with nontuberculous mycobacterial infections, severe viral infections (particularly refractory human papillomavirus disease), lymphedema, myelodysplastic syndrome (MDS), and acute myeloid leukemia. Patients with GATA2 deficiency who undergo allogeneic hematopoietic stem cell transplantation prior to the development of life-threatening infections or cytogenetic abnormalities may have optimal clinical outcomes. OBJECTIVES: The aim of this article is to determine ways in which oncology nurses can identify GATA2 deficiency in patients early and optimize treatment decisions. METHODS: A case study is presented of a 33-year-old man with recurrent infections and MDS and his two sons, all of whom were found to have the same GATA2 mutation. FINDINGS: Oncology nurses play an important role in early detection and identification by interviewing patients and obtaining a complete and thorough family history.
引用
收藏
页码:417 / 422
页数:6
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