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PHF6 mutations in T-cell acute lymphoblastic leukemia

(2010) NATURE GENETICS. 42(4). p.338-U95
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Abstract
Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer(1,2). T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males(3). In this study, we report the identification of inactivating mutations and deletions in the X-linked plant homeodomain finger 6 (PHF6) gene in 16% of pediatric and 38% of adult primary T-ALL samples. Notably, PHF6 mutations are almost exclusively found in T-ALL samples from male subjects. Mutational loss of PHF6 is importantly associated with leukemias driven by aberrant expression of the homeobox transcription factor oncogenes TLX1 and TLX3. Overall, these results identify PHF6 as a new X-linked tumor suppressor in T-ALL and point to a strong genetic interaction between PHF6 loss and aberrant expression of TLX transcription factors in the pathogenesis of this disease.
Keywords
LINKED GENE, CHROMOSOME, FORSSMAN-LEHMANN-SYNDROME, GENE-EXPRESSION, X-INACTIVATION PROFILE, FEMALES, PROTEIN

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Chicago
Van Vlierberghe, Pieter, Teresa Palomero, Hossein Khiabanian, Joni Van der Meulen, Mireia Castillo, Nadine Van Roy, Barbara De Moerloose, et al. 2010. “PHF6 Mutations in T-cell Acute Lymphoblastic Leukemia.” Nature Genetics 42 (4): 338–U95.
APA
Van Vlierberghe, P., Palomero, T., Khiabanian, H., Van der Meulen, J., Castillo, M., Van Roy, N., De Moerloose, B., et al. (2010). PHF6 mutations in T-cell acute lymphoblastic leukemia. NATURE GENETICS, 42(4), 338–U95.
Vancouver
1.
Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, et al. PHF6 mutations in T-cell acute lymphoblastic leukemia. NATURE GENETICS. 2010;42(4):338–U95.
MLA
Van Vlierberghe, Pieter, Teresa Palomero, Hossein Khiabanian, et al. “PHF6 Mutations in T-cell Acute Lymphoblastic Leukemia.” NATURE GENETICS 42.4 (2010): 338–U95. Print.
@article{1164738,
  abstract     = {Tumor suppressor genes on the X chromosome may skew the gender distribution of specific types of cancer(1,2). T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with an increased incidence in males(3). In this study, we report the identification of inactivating mutations and deletions in the X-linked plant homeodomain finger 6 (PHF6) gene in 16\% of pediatric and 38\% of adult primary T-ALL samples. Notably, PHF6 mutations are almost exclusively found in T-ALL samples from male subjects. Mutational loss of PHF6 is importantly associated with leukemias driven by aberrant expression of the homeobox transcription factor oncogenes TLX1 and TLX3. Overall, these results identify PHF6 as a new X-linked tumor suppressor in T-ALL and point to a strong genetic interaction between PHF6 loss and aberrant expression of TLX transcription factors in the pathogenesis of this disease.},
  author       = {Van Vlierberghe, Pieter and Palomero, Teresa and Khiabanian, Hossein and Van der Meulen, Joni and Castillo, Mireia and Van Roy, Nadine and De Moerloose, Barbara and Philipp{\'e}, Jan and Gonzalez-Garcia, Sara and Toribio, Maria L and Taghon, Tom and Zuurbier, Linda and Cauwelier, Barbara and Harrison, Christine J and Schwab, Claire and Pisecker, Markus and Strehl, Sabine and Langerak, Anton W and Gecz, Jozef and Sonneveld, Edwin and Pieters, Rob and Paietta, Elisabeth and Rowe, Jacob M and Wiernik, Peter H and Benoit, Yves and Soulier, Jean and Poppe, Bruce and Yao, Xiaopan and Cordon-Cardo, Carlos and Meijerink, Jules and Rabadan, Raul and Speleman, Franki and Ferrando, Adolfo},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  keyword      = {LINKED GENE,CHROMOSOME,FORSSMAN-LEHMANN-SYNDROME,GENE-EXPRESSION,X-INACTIVATION PROFILE,FEMALES,PROTEIN},
  language     = {eng},
  number       = {4},
  pages        = {338--U95},
  title        = {PHF6 mutations in T-cell acute lymphoblastic leukemia},
  url          = {http://dx.doi.org/10.1038/ng.542},
  volume       = {42},
  year         = {2010},
}

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