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Cellular Oncology

, Volume 39, Issue 6, pp 573–582 | Cite as

WT1, MSH6, GATA5 and PAX5 as epigenetic oral squamous cell carcinoma biomarkers - a short report

  • Ilda Patrícia Ribeiro
  • Francisco Caramelo
  • Francisco Marques
  • Ana Domingues
  • Margarida Mesquita
  • Leonor Barroso
  • Hugo Prazeres
  • Maria José Julião
  • Isabel Poiares Baptista
  • Artur Ferreira
  • Joana Barbosa Melo
  • Isabel Marques Carreira
REPORT

Abstract

Purpose

Oral squamous cell carcinoma (OSCC) is a frequently occurring aggressive malignancy with a heterogeneous clinical behavior. Based on the paucity of specific early diagnostic and prognostic biomarkers, which hampers the appropriate treatment and, ultimately the development of novel targeted therapies, we aimed at identifying such biomarkers through a genetic and epigenetic analysis of these tumors.

Methods

93 primary OSCCs were subjected to DNA copy number alteration (CNA) and methylation status analyses using methylation-specific multiplex ligation-dependent probe amplification (MS-MPLA). The genetic and epigenetic OSCC profiles obtained were associated with the patients’ clinic-pathological features.

Results

We found that WT1 gene promoter methylation is a predictor of a better prognosis and that MSH6 and GATA5 gene promoter methylation serve as predictors of a worse prognosis. GATA5 gene promoter methylation was found to be significantly associated with a shorter survival rate. In addition, we found that PAX5 gene promoter methylation was significantly associated with tongue tumors. To the best of our knowledge, this is the first study that highlights this specific set of genes as epigenetic diagnostic and prognostic biomarkers in OSCC.

Conclusions

Our data highlight the importance of epigenetically assessing OSCCs to identify key genes that may serve as diagnostic and prognostic biomarkers and, potentially, as candidate therapeutic targets.

Keywords

DNA methylation Copy number gains and losses Predictors of prognosis Oral squamous cell carcinoma 

Notes

Acknowledgments

Ribeiro I.P. is a recipient of a PhD fellowship (SFRH/BD/52290/2013) from the Portuguese Foundation for Science and Technology. This work was in part supported by CIMAGO (Center of Investigation on Environment Genetics and Oncobiology - Faculty of Medicine, University of Coimbra) and by the Portuguese Foundation for Science and Technology (grant: UID/NEU/04539/2013).

Compliance with ethical standards

Conflict of interest

The authors have no conflict of interest to disclose.

Supplementary material

13402_2016_293_MOESM1_ESM.doc (77 kb)
ESM 1 Supplementary Table 1 (DOC 77 kb)

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Copyright information

© International Society for Cellular Oncology 2016

Authors and Affiliations

  • Ilda Patrícia Ribeiro
    • 1
    • 2
  • Francisco Caramelo
    • 3
  • Francisco Marques
    • 2
    • 4
    • 5
  • Ana Domingues
    • 1
  • Margarida Mesquita
    • 6
  • Leonor Barroso
    • 6
  • Hugo Prazeres
    • 7
  • Maria José Julião
    • 8
  • Isabel Poiares Baptista
    • 2
    • 4
  • Artur Ferreira
    • 6
  • Joana Barbosa Melo
    • 1
    • 2
  • Isabel Marques Carreira
    • 1
    • 2
  1. 1.Cytogenetics and Genomics Laboratory, Faculty of MedicineUniversity of CoimbraCoimbraPortugal
  2. 2.CIMAGO - Center of Investigation on Environment Genetics and Oncobiology - Faculty of MedicineUniversity of CoimbraCoimbraPortugal
  3. 3.Laboratory of Biostatistics and Medical Informatics, IBILI - Faculty of MedicineUniversity of CoimbraCoimbraPortugal
  4. 4.Department of Dentistry, Faculty of MedicineUniversity of CoimbraCoimbraPortugal
  5. 5.Stomatology UnitCoimbra Hospital and University Centre (CHUC)CoimbraPortugal
  6. 6.Maxillofacial Surgery Department, Coimbra Hospital and University Centre (CHUC)CoimbraPortugal
  7. 7.Molecular Pathology LaboratoryPortuguese Institute of Oncology of Coimbra FGCoimbraPortugal
  8. 8.Department of PathologyCoimbra Hospital and University Centre (CHUC)CoimbraPortugal

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