T-Cell Acute Lymphoblastic Leukemia in Association With Borjeson-Forssman-Lehmann Syndrome Due To a Mutation in PHF6

被引：43
|
作者：
Chao, Mwe Mwe [2 ]
Todd, Matthew A. [3 ]
Kontny, Udo [4 ]
Neas, Katherine [5 ]
Sullivan, Michael J. [6 ]
Hunter, Alasdair G. [7 ]
Picketts, David J. [3 ]
Kratz, Christian P. [1 ]
机构：
[1] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Rockville, MD 20852 USA
[2] Childrens Natl Med Ctr, Div Pediat Hematol Oncol, Washington, DC 20010 USA
[3] Univ Ottawa, Ottawa Hlth Res Inst, Ottawa, ON, Canada
[4] Univ Freiburg, Div Pediat Hematol Oncol, Dept Pediat & Adolescent Med, Freiburg, Germany
[5] Capital & Coast Dist Hlth Board, Cent & So Reg Genet Serv, Wellington, New Zealand
[6] Univ Otago, Dept Paediat, Childrens Canc Res Grp, Childrens Haematol Oncol Ctr,Chrsitchurch Sch Med, Christchurch, New Zealand
[7] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada
来源：
PEDIATRIC BLOOD & CANCER | 2010年 / 55卷 / 04期
基金：
美国国家卫生研究院; 加拿大健康研究院;
关键词：
Borjeson-Forssman-Lehmann syndrome; PHF6; T-cell ALL/lymphoma; GERMLINE MUTATIONS; GENE; THROMBOCYTOPENIA; PROTEIN;
D O I：
10.1002/pbc.22574
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6 We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL) The PHF6 gene is located on the X chromosome and encodes a protein with two PHD-type zinc finger domains and four nuclear localization sequences Previously, overexpression of Phf6 was observed in murine T-cell lymphomas Our observation indicates that BEES may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-ALL Pediatr Blood Cancer 2010,55 722-724 (C) 2010 Wiley-Liss, Inc
引用
收藏
页码：722 / 724
页数：3
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