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PTEN deficiency is a common defect in juvenile myelomonocytic leukemia

Yunying Lucy Liu1, Robert P Castleberry, Peter D Emanuel

  • 1Winthrop P. Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, 4301 West Markham Street, slot #623, Little Rock, AR 72205-7199, USA.

Leukemia Research
|November 18, 2008
PubMed

Insights

Juvenile myelomonocytic leukemia (JMML) often involves PTEN protein deficiency, linked to gene promoter hypermethylation. This deficiency may contribute to the leukemia

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Juvenile myelomonocytic leukemia (JMML) is characterized by GM-CSF hypersensitivity.
  • Ras signaling hyperactivity is implicated in JMML pathogenesis.
  • PTEN (phosphatase and tensin homolog) acts as a tumor suppressor by negatively regulating growth signaling pathways.

Purpose of the Study:

  • To investigate the role of PTEN protein deficiency in JMML.
  • To determine the prevalence of PTEN alterations in JMML patients.
  • To explore the correlation between PTEN deficiency and hyperactive signaling pathways.

Main Methods:

  • Screening of 34 JMML patients.
  • Assessment of PTEN protein and mRNA levels.
  • Analysis of PTEN gene promoter methylation status.
  • Evaluation of Akt and MAPK signaling pathway activation.

Main Results:

  • Decreased PTEN protein observed in 67% of JMML patients.
  • Significantly lower PTEN mRNA levels in patients versus controls (p<0.01).
  • PTEN promoter hypermethylation found in 77% of patients.
  • Constitutive-hyperactive Akt (55%) and MAPK (73%) signaling.

Conclusions:

  • PTEN deficiency is a common finding in JMML.
  • PTEN deficiency is partly attributed to PTEN gene promoter hypermethylation.
  • PTEN deficiency may contribute to JMML pathogenesis by impairing negative growth signals against Ras hyperactivity.

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