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Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients

Eric Pasmant1, Julien Masliah-Planchon, Pascale Lévy

  • 1Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France. eric.pasmant@gmail.com

Molecular Medicine (Cambridge, Mass.)
|September 17, 2010
PubMed

Insights

Patients with NF1 microdeletion have higher risks for tumors. This study found specific gene expression changes, particularly RNF135 and CENTA2 downregulation, linked to increased malignancy risk in these patients.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Neurofibromatosis type 1 (NF1) microdeletion is associated with earlier onset of neurofibromas and a higher risk of malignant peripheral nerve sheath tumors (MPNSTs).
  • The increased malignancy risk may stem from the inactivation of additional tumor suppressor genes within the commonly deleted 1.4-Mb region alongside NF1.

Purpose of the Study:

  • To investigate the expression levels of genes and microRNAs within the 1.4-Mb NF1 microdeletion region in various neurofibroma types and MPNSTs.
  • To identify specific genes potentially contributing to the elevated malignancy risk in NF1 microdeletion patients.

Main Methods:

  • Real-time quantitative reverse-transcription polymerase chain reaction (RT-PCR) was employed.
  • Gene expression was analyzed in human dermal neurofibromas, plexiform neurofibromas, MPNSTs, and MPNST cell lines.

Main Results:

  • Five genes (OMG, SUZ12, ATAD5, EVI2A, C17orf79) showed significant upregulation in specific tumor types (plexiform neurofibromas and MPNSTs).
  • Two genes, RNF135 and CENTA2, were significantly downregulated in tumor Schwann cells from MPNSTs and MPNST cell lines.

Conclusions:

  • The study implicates several genes within the NF1 microdeletion region in the pathogenesis of MPNSTs.
  • RNF135 and CENTA2 downregulation are particularly highlighted as potential contributors to the increased malignancy risk observed in NF1-microdeleted patients.

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