PHF6 mutations in adult acute myeloid leukemia

P. Van Vlierberghe; J. Patel; O. Abdel-Wahab; C. Lobry; C. V. Hedvat; M. Balbin; C. Nicolas; A. R. Payer; H. F. Fernandez; M. S. Tallman; E. Paietta; A. Melnick; P. Vandenberghe; F. Speleman; I. Aifantis; J. Cools; R. Levine; A. Ferrando

doi:10.1038/leu.2010.247

PHF6 mutations in adult acute myeloid leukemia

P. Van Vlierberghe, J. Patel, O. Abdel-Wahab, C. Lobry, C. V. Hedvat, M. Balbin, C. Nicolas, A. R. Payer, H. F. Fernandez, M. S. Tallman, E. Paietta, A. Melnick, P. Vandenberghe, F. Speleman, I. Aifantis, J. Cools, R. Levine, A. Ferrando

Oncology

Research output: Contribution to journal › Article › peer-review

133 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	130-134
Number of pages	5
Journal	Leukemia
Volume	25
Issue number	1
DOIs	https://doi.org/10.1038/leu.2010.247
State	Published - Jan 2011

Keywords

AML
PHF6
mutations

ASJC Scopus subject areas

Hematology
Oncology
Cancer Research

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/leu.2010.247

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Van Vlierberghe, P., Patel, J., Abdel-Wahab, O., Lobry, C., Hedvat, C. V., Balbin, M., Nicolas, C., Payer, A. R., Fernandez, H. F., Tallman, M. S., Paietta, E., Melnick, A., Vandenberghe, P., Speleman, F., Aifantis, I., Cools, J., Levine, R., & Ferrando, A. (2011). PHF6 mutations in adult acute myeloid leukemia. Leukemia, 25(1), 130-134. https://doi.org/10.1038/leu.2010.247

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title = "PHF6 mutations in adult acute myeloid leukemia",

abstract = "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.",

keywords = "AML, PHF6, mutations",

author = "{Van Vlierberghe}, P. and J. Patel and O. Abdel-Wahab and C. Lobry and Hedvat, {C. V.} and M. Balbin and C. Nicolas and Payer, {A. R.} and Fernandez, {H. F.} and Tallman, {M. S.} and E. Paietta and A. Melnick and P. Vandenberghe and F. Speleman and I. Aifantis and J. Cools and R. Levine and A. Ferrando",

note = "Funding Information: This study was supported by the Fund for Scientific Research (FWO) Flanders (postdoctoral grants to PVV and project grants G.0198.08 and G.0869.10N to FS); the GOA-UGent (Grant no. 12051203); the IWT-Vlaanderen (SBO Grant no. 060848); the Children Cancer Fund Ghent (FS); the Belgian Program of Interuniversity Poles of Attraction; the Belgian Foundation Against Cancer; the ECOG and MSKCC tumor banks; a Physical Sciences-Oncology Center grant from the NCI (RLL); the National Institutes of Health (R01CA120196 and R01CA129382 to AF); the Rally Across America Foundation (AF); the Swim Across America Foundation (AF) and the Golfers Against Cancer Foundation (AF). RLL is the Geoffrey Beene Junior Chair and an Early Career Award Recipient of the Howard Hughes Medical Institute. AF is a Leukemia and Lymphoma Society Scholar. We appreciate the assistance of Adriana Heguy with DNA resequencing.",

year = "2011",

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doi = "10.1038/leu.2010.247",

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T1 - PHF6 mutations in adult acute myeloid leukemia

AU - Van Vlierberghe, P.

AU - Patel, J.

AU - Abdel-Wahab, O.

AU - Lobry, C.

AU - Hedvat, C. V.

AU - Balbin, M.

AU - Nicolas, C.

AU - Payer, A. R.

AU - Fernandez, H. F.

AU - Tallman, M. S.

AU - Paietta, E.

AU - Melnick, A.

AU - Vandenberghe, P.

AU - Speleman, F.

AU - Aifantis, I.

AU - Cools, J.

AU - Levine, R.

AU - Ferrando, A.

N1 - Funding Information: This study was supported by the Fund for Scientific Research (FWO) Flanders (postdoctoral grants to PVV and project grants G.0198.08 and G.0869.10N to FS); the GOA-UGent (Grant no. 12051203); the IWT-Vlaanderen (SBO Grant no. 060848); the Children Cancer Fund Ghent (FS); the Belgian Program of Interuniversity Poles of Attraction; the Belgian Foundation Against Cancer; the ECOG and MSKCC tumor banks; a Physical Sciences-Oncology Center grant from the NCI (RLL); the National Institutes of Health (R01CA120196 and R01CA129382 to AF); the Rally Across America Foundation (AF); the Swim Across America Foundation (AF) and the Golfers Against Cancer Foundation (AF). RLL is the Geoffrey Beene Junior Chair and an Early Career Award Recipient of the Howard Hughes Medical Institute. AF is a Leukemia and Lymphoma Society Scholar. We appreciate the assistance of Adriana Heguy with DNA resequencing.

PY - 2011/1

Y1 - 2011/1

N2 - 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.

AB - 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.

KW - AML

KW - PHF6

KW - mutations

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DO - 10.1038/leu.2010.247

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AN - SCOPUS:78651299314

SN - 0887-6924

VL - 25

SP - 130

EP - 134

JO - Leukemia

JF - Leukemia

IS - 1

ER -

PHF6 mutations in adult acute myeloid leukemia

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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