Genetic and epigenetic analysis of non-small cell lung cancer with NotI-microarrays

Alexey A. Dmitriev, Vladimir I. Kashuba, Klas Haraldson, Vera N. Senchenko, Tatiana V. Pavlova, Anna V. Kudryavtseva, Ekaterina A. Anedchenko, George S. Krasnov, Irina V. Pronina, Vitalij I. Loginov, Tatiana T. Kondratieva, Tatiana P. Kazubskaya, Eleonora A. Braga, Surya P. Yenamandra, Ilya Ignatjev, Ingemar Ernberg, George Klein, Michael I. Lerman, Eugene R. Zabarovsky

Research output: Contribution to journalArticlepeer-review

71 Scopus citations

Abstract

This study aimed to clarify genetic and epigenetic alterations that occur during lung carcinogenesis and to design perspective sets of newly identified biomarkers. The original method includes chromosome 3 specific NotI-microarrays containing 180 NotI clones associated with genes for hybridization with 40 paired normal/tumor DNA samples of primary lung tumors: 28 squamous cell carcinomas (SCC) and 12 adenocarcinomas (ADC). The NotI-microarray data were confirmed by qPC R and bisulfite sequencing analyses. Forty-four genes showed methylation and/or deletions in more than 15% of non-small cell lung cancer (NSC LC) samples. In general, SCC samples were more frequently methylated/ deleted than ADC. Moreover, the SCC alterations were observed already at stage I of tumor development, whereas in ADC many genes showed tumor progression specific methylation/deletions. Among genes frequently methylated/ deleted in NSC LC, only a few were already known tumor suppressor genes: RBSP3 (CTDSPL), VHL and THRB. The RPL32, LOC285205, FGD5 and other genes were previously not shown to be involved in lung carcinogenesis. Ten methylated genes, i.e., IQSEC1, RBSP3, ITGA9, FOXP1, LRRN1, GNAI2, VHL, FGD5, ALDH1L1 and BCL6 were tested for expression by qPC R and were found downregulated in the majority of cases. Three genes (RBSP3, FBLN2 and ITGA9) demonstrated strong cell growth inhibition activity. A comprehensive statistical analysis suggested the set of 19 gene markers, ANKRD28, BHLHE40, CGGBP1, RBSP3, EPHB1, FGD5, FOXP1, GORASP1/TTC21, IQSEC1, ITGA9, LOC285375, LRRC3B, LRRN1, MITF, NKIRAS1/RPL15, TRH, UBE2E2, VHL, WNT7A, to allow early detection, tumor progression, metastases and to discriminate between SCC and ADC with sensitivity and specificity of 80-100%.

Original languageEnglish
Pages (from-to)502-513
Number of pages12
JournalEpigenetics
Volume7
Issue number5
DOIs
StatePublished - May 2012
Externally publishedYes

Keywords

  • Biomarkers
  • Epigenetics
  • Lung cancer
  • Methylation
  • Methylation specific microarrays
  • NotI-microarrays
  • RT-qPCR
  • Tumor-suppressor gene

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