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An X chromosome gene, WTX, is commonly inactivated in Wilms tumor

Miguel N Rivera1, Woo Jae Kim, Julie Wells

  • 1Massachusetts General Hospital Cancer Center, Harvard Medical Center, Boston, MA 02114, USA.

Science (New York, N.Y.)
|January 6, 2007
PubMed

Insights

Researchers discovered a new gene, WTX, on the X chromosome that is inactivated in about one-third of Wilms tumors, a pediatric kidney cancer. This finding offers new insights into the genetic basis of this disease.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Wilms tumor is a common pediatric kidney cancer.
  • WT1 tumor-suppressor gene inactivation occurs in 5-10% of Wilms tumors.
  • The genetic landscape of Wilms tumor requires further elucidation.

Purpose of the Study:

  • To identify novel genes involved in Wilms tumor development.
  • To investigate the role of X-chromosome alterations in Wilms tumor pathogenesis.
  • To characterize a newly identified gene, WTX, and its function.

Main Methods:

  • High-resolution screening for DNA copy-number alterations in Wilms tumor samples.
  • Somatic deletion analysis targeting X-chromosome genes.
  • Mutation analysis of the identified WTX gene.
  • Comparative analysis with WT1 gene mutations and expression patterns.

Main Results:

  • A novel gene, WTX, on the X chromosome was identified.
  • WTX is inactivated by somatic deletions in approximately one-third (15 of 51) of Wilms tumors.
  • WTX inactivation was mutually exclusive with WT1 mutations.
  • WTX and WT1 share similar restricted expression patterns in normal renal precursors.
  • WTX inactivation occurs via a monoallelic "single-hit" event.

Conclusions:

  • WTX is a novel tumor-suppressor gene implicated in Wilms tumorigenesis.
  • WTX functions as a tumor suppressor, potentially cooperating with or acting in parallel to WT1.
  • The monoallelic inactivation mechanism of WTX provides a new model for X-linked tumor suppressor genes.

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