GATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia

被引：4

作者：

Vinh, Donald C. ^{[1
,3
]}

Palma, Laura ^{[3
,4
]}

Storring, John ^{[5
]}

Foulkes, William D. ^{[2
,3
,4
]}

机构：

[1] MUHC, RI, Infect Dis Susceptibil Res Program, Montreal, PQ, Canada

[2] MUHC, RI, Canc Res Program, 1001 Decarie Blvd,Rm EM0-3248, Montreal, PQ H4A3J1, Canada

[3] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[4] MUHC, Dept Med Genet, Montreal, PQ, Canada

[5] MUHC, Div Hematol, Montreal, PQ, Canada

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2018年 / 40卷 / 04期

关键词：

GATA2; myelodysplasia; adolescent; chromosomal anomaly; genitourinary abnormality; ACUTE MYELOID-LEUKEMIA; MONOMAC SYNDROME; SPORADIC MONOCYTOPENIA; AUTOSOMAL-DOMINANT; PRIMARY LYMPHEDEMA; GERM-LINE; MUTATIONS; HAPLOINSUFFICIENCY; HEMATOPOIESIS; CHILDREN;

D O I：

10.1097/MPH.0000000000001136

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

GATA2 deficiency is an inherited bone marrow failure syndrome that can manifest with myelodysplasia (myelodysplastic syndrome) with chromosomal aberrations and high risk of evolution to leukemia (particularly, acute myeloid leukemia); immunodeficiency with opportunistic infections; and/or lymphedema. It can be transmitted in families in autosomal-dominant fashion, or present de novo as sporadic disease in adults or children. The authors report a case of an adolescent male with features of GATA2 deficiency resulting from a complete monoallelic deletion, review chromosomal anomalies associated with this disorder, and discuss the management implications.

引用

页码：E225 / E228

页数：4

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