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

被引：44

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

页码：722 / 724

页数：3

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