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Aberrant genes promoter methylation in neural crest-derived tumors

Annamaria la Torre1, Lucia Anna Muscarella, Paola Parrella

  • 1Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy.

The International Journal of Biological Markers
|November 6, 2012
PubMed

Insights

Aberrant DNA methylation of cancer genes is common in solid tumors. RASSF1A methylation distinguishes tumors from normal tissue, while MCAM methylation is elevated in lung carcinoids, indicating potential biomarkers.

Area of Science:

  • Oncology
  • Epigenetics
  • Molecular Biology

Background:

  • Aberrant methylation of CpG islands disrupts the epigenetic landscape, leading to the inactivation of cancer-related genes in solid tumors.
  • Understanding these epigenetic alterations is crucial for identifying novel cancer biomarkers and therapeutic targets.

Purpose of the Study:

  • To analyze the promoter methylation status of six cancer-specific methylated genes in neural crest-derived tumors.
  • To evaluate the potential of these genes as biomarkers for distinguishing between normal and tumor tissues, particularly in specific cancer types.

Main Methods:

  • Quantitative methylation-specific real-time PCR (QMSP) was employed to assess the promoter methylation status of six genes (MCAM, SSBP2, NISCH, B4GALT1, KIF1A, and RASSF1A).
  • The analysis was performed on 38 neural crest-derived tumors.

Main Results:

  • RASSF1A promoter methylation successfully distinguished between normal and tumor samples in cutaneous melanomas, lung carcinoids, and small bowel carcinoids.
  • Significantly higher MCAM methylation levels were observed in lung carcinoid tumors (p=0.001).

Conclusions:

  • RASSF1A methylation serves as a reliable biomarker for differentiating tumor from normal tissue across several cancer types.
  • MCAM methylation may represent a valuable molecular biomarker specifically for lung carcinoid tumors, warranting further investigation.

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