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Hedgehog pathway activity in pediatric embryonal rhabdomyosarcoma and undifferentiated sarcoma: a report from the

Joseph G Pressey1, James R Anderson, David K Crossman

  • 1Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. jpressey@uab.edu

Pediatric Blood & Cancer
|May 28, 2011
PubMed
Abstract

Insights

Aberrant hedgehog (Hh) signaling is active in some pediatric rhabdomyosarcoma (RMS) and undifferentiated sarcoma (US) tumors. This pathway may be a new therapeutic target for these cancers.

Area of Science:

  • Oncology
  • Molecular Biology
  • Cancer Genetics

Background:

  • Aberrant activation of the hedgehog (Hh) signaling pathway is implicated in numerous pediatric and adult malignancies.
  • Inactivation of the Hh regulator PTCH causes Gorlin syndrome, a cancer predisposition syndrome.
  • Hh pathway targets GLI1 and PTCH have shown initial evidence of expression in rhabdomyosarcoma (RMS) tumors.

Purpose of the Study:

  • To investigate the role of Hh pathway signaling in pediatric RMS and undifferentiated sarcoma (US) tumors.
  • To measure the expression of Hh pathway targets GLI1 and PTCH in these pediatric tumors.

Main Methods:

  • RNA extraction from archival human tumor specimens from pediatric patients.
  • Quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) to measure GLI1 and PTCH expression.
  • Microarray analysis to assess downstream Hh target gene expression.

Main Results:

  • GLI1 and/or PTCH expression was detected in significant subsets of embryonal RMS (ERMS) and US tumors, but rarely in alveolar RMS.
  • No PTCH or SMO mutations were found in ERMS tumors with high GLI1 expression.
  • Microarray analysis revealed overexpression of downstream Hh targets in ERMS tumors with high or intermediate GLI1 expression.

Conclusions:

  • Findings support a role for Hh pathway activation in the development of a subset of ERMS and US tumors.
  • Hedgehog signaling represents a potential novel therapeutic target for these specific pediatric sarcomas.

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