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Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

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PHF6 mutations in T-cell acute lymphoblastic leukemia.

Pieter Van Vlierberghe¹, Teresa Palomero, Hossein Khiabanian

¹Institute for Cancer Genetics, Columbia University Medical Center, New York, New York, USA.

Nature Genetics

|March 16, 2010

Summary

Mutations in the X-linked PHF6 gene, a tumor suppressor, are linked to T-cell acute lymphoblastic leukemia (T-ALL), particularly in males. Loss of PHF6 interacts with TLX oncogenes in T-ALL development.

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Area of Science:

Genetics
Oncology
Molecular Biology

Background:

X-linked tumor suppressor genes may influence cancer sex distribution.
T-cell acute lymphoblastic leukemia (T-ALL) shows a higher incidence in males.

Purpose of the Study:

To investigate the role of the X-linked gene PHF6 in T-ALL.
To determine the association between PHF6 mutations and T-ALL pathogenesis.

Main Methods:

Analysis of inactivating mutations and deletions in the PHF6 gene in T-ALL samples.
Correlation of PHF6 mutational status with patient demographics and oncogene expression.

Main Results:

Inactivating PHF6 mutations were identified in 16% of pediatric and 38% of adult T-ALL samples.
PHF6 mutations were predominantly found in male T-ALL patients.
Loss of PHF6 was associated with T-ALL driven by TLX1 and TLX3 oncogenes.

Conclusions:

PHF6 is identified as a novel X-linked tumor suppressor in T-ALL.
A significant genetic interaction between PHF6 loss and TLX transcription factors in T-ALL pathogenesis is suggested.