The X chromosome gene PHF6 is frequently mutated in a certain type of leukemia according to a study published online this week in Nature Genetics. The work identifies PHF6 as a new X-linked gene involved in the development of T-cell acute lymphoblastic leukemia (T-ALL).
T-ALL is an aggressive type of blood cancer that is three times more common in males than females. It results from the uncontrolled growth of T-cells ― a type of white blood cell that is a part of the body's immune system. Overall, leukemia affects approximately 300,000 people worldwide, with about 10% of those cases classified as acute lymphoblastic leukemia (ALL), and 30% of ALL cases classified as T-ALL.
Adolfo Ferrando and colleagues sequenced genes on the X chromosome of tumour samples from 12 males with T-ALL and identified three tumour-specific mutations in the PHF6 gene. The authors also analyzed X-chromosome genes in tumours from another 246 T-ALL patients and found deletions covering the PHF6 gene in 3% of samples. Finally, the authors looked at PHF6 in an additional panel of 131 T-ALL patients and found mutations in 38% of adult and 16% of child T-ALL samples. No mutations in PHF6 were found in 62 cases of B-cell ALL, the other type of ALL.