Neutropenia in the age of genetic testing: Advances and challenges

被引：15
|
作者：
Furutani, Elissa [1 ]
Newburger, Peter E. [1 ,2 ]
Shinnannura, Akiko [1 ]
机构：
[1] Dana Farber & Boston Childrens Canc & Blood Disor, 300 Longwood Ave, Boston, MA 02115 USA
[2] Univ Massachusetts, Sch Med, Dept Pediat, Worcester, MA USA
来源：
AMERICAN JOURNAL OF HEMATOLOGY | 2019年 / 94卷 / 03期
关键词：
SEVERE CONGENITAL NEUTROPENIA; BONE-MARROW FAILURE; SHWACHMAN-DIAMOND SYNDROME; CXCR4 ANTAGONIST PLERIXAFOR; GUANINE-NUCLEOTIDE EXCHANGE; MYELODYSPLASTIC SYNDROME; MUTATIONS CAUSE; CLINICAL PRESENTATION; GENOMIC ANALYSIS; MIRAGE SYNDROME;
D O I：
10.1002/ajh.25374
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic neutropenia disorders informs treatment options, enables risk stratification, cancer surveillance, and attention to associated medical complications. The rapidly expanding genetic testing options for the evaluation of neutropenia have led to exciting advances but also new challenges. This review provides a practical guide to germline genetic testing for neutropenia.
引用
收藏
页码：384 / 393
页数：10
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