PHF6 mutations in adult acute myeloid leukemia

被引：131

作者：

Van Vlierberghe, P. ^{[1
,2
]}

Patel, J. ^{[3
]}

Abdel-Wahab, O. ^{[3
,4
]}

Lobry, C. ^{[5
,6
,7
]}

Hedvat, C. V. ^{[8
]}

Balbin, M. ^{[9
,10
]}

Nicolas, C. ^{[11
]}

Payer, A. R. ^{[11
]}

Fernandez, H. F. ^{[12
]}

Tallman, M. S. ^{[4
]}

Paietta, E. ^{[13
]}

Melnick, A. ^{[14
]}

Vandenberghe, P. ^{[15
,16
]}

Speleman, F. ^{[2
]}

Aifantis, I. ^{[5
,6
,7
]}

Cools, J. ^{[15
,17
]}

Levine, R. ^{[3
,4
]}

Ferrando, A. ^{[1
,18
,19
]}

机构：

[1] Columbia Univ, Inst Canc Genet, Med Ctr, New York, NY 10032 USA

[2] Ghent Univ Hosp, Ctr Med Genet, B-9000 Ghent, Belgium

[3] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10021 USA

[4] Mem Sloan Kettering Canc Ctr, Dept Med, Leukemia Serv, New York, NY 10021 USA

[5] NYU, Dept Pathol, Howard Hughes Med Inst, New York, NY 10016 USA

[6] NYU, Inst Canc, New York, NY 10016 USA

[7] NYU, Sch Med, Helen & Martin S Kimmel Stem Cell Ctr, New York, NY 10016 USA

[8] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10021 USA

[9] Univ Oviedo, Hosp Cent Asturias, Mol Oncol Lab, E-33080 Oviedo, Spain

[10] Inst Univ Oncol Principado Asturias, Oviedo, Spain

[11] Univ Oviedo, Hosp Cent Asturias, Dept Hematol, E-33080 Oviedo, Spain

[12] H Lee Moffitt Canc Ctr & Res Inst, Dept Blood & Marrow Transplantat, Tampa, FL USA

[13] Montefiore Med Ctr N, Dept Oncol, Bronx, NY USA

[14] Weill Cornell Med Coll, Dept Med, Div Hematol Oncol, New York, NY USA

[15] Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium

[16] Katholieke Univ Leuven Hosp, Dept Hematol, Louvain, Belgium

[17] Flemish Interuniv Inst Biotechnol VIB, Dept Mol & Dev Genet, Louvain, Belgium

[18] Columbia Univ, Dept Pathol, Med Ctr, New York, NY 10032 USA

[19] Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10032 USA

来源：

LEUKEMIA | 2011年 / 25卷 / 01期

基金：

美国国家卫生研究院;

关键词：

PHF6; mutations; AML; ACUTE LYMPHOBLASTIC-LEUKEMIA; FORSSMAN-LEHMANN-SYNDROME; ACTIVATING FLT3 MUTATIONS; GENE-EXPRESSION; T-ALL; FUSION; TET2; LINEAGE; GENOME; COMMON;

D O I：

10.1038/leu.2010.247

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Loss of function mutations and deletions encompassing the plant homeodomain finger 6 (PHF6) gene are present in about 20% of T-cell acute lymphoblastic leukemias (ALLs). Here, we report the identification of recurrent mutations in PHF6 in 10/353 adult acute myeloid leukemias (AMLs). Genetic lesions in PHF6 found in AMLs are frameshift and nonsense mutations distributed through the gene or point mutations involving the second plant homeodomain (PHD)-like domain of the protein. As in the case of T-ALL, where PHF6 alterations are found almost exclusively in males, mutations in PHF6 were seven times more prevalent in males than in females with AML. Overall, these results identify PHF6 as a tumor suppressor gene mutated in AML and extend the role of this X-linked tumor suppressor gene in the pathogenesis of hematologic tumors. Leukemia (2011) 25, 130-134; doi: 10.1038/leu.2010.247; published online 29 October 2010

引用

页码：130 / 134

页数：5

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