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Annals of Surgical Oncology

, Volume 19, Supplement 3, pp 528–538 | Cite as

Association of FANCC and PTCH1 with the Development of Early Dysplastic Lesions of the Head and Neck

  • Amlan Ghosh
  • Susmita Ghosh
  • Guru Prasad Maiti
  • Sudeshna Mukherjee
  • Nupur Mukherjee
  • Jayanta Chakraborty
  • Anup Roy
  • Susanta Roychoudhury
  • C. K. Panda
Translational Research and Biomarkers

Abstract

Background

Alteration of chromosome 9q22.3 region is an early and frequent event in head and neck squamous cell carcinoma (HNSCC). The aim of this study was to understand the association of candidate tumor suppressor genes PHF2, FANCC, PTCH1, and XPA located in this region in the development of HNSCC.

Methods

The alterations (deletion, promoter methylation, mutation, expression) of these genes were analyzed in 65 dysplastic head and neck lesions and 84 primary HNSCC samples. Clinicopathologic correlations were made with alterations of the genes.

Results

Overall alterations (deletion, promoter methylation) of FANCC and PTCH1 were high in mild dysplasia and comparable in subsequent stages of tumor progression. However, PHF2 alteration was low in mild dysplasia, but increased in moderate and severe dysplasias. Alterations (deletion, promoter methylation) of FANCC and PTCH1 showed association with each other. Two novel mutations in GLI binding sites of PTCH1 promoter and a novel microsatellite marker hmPTCH1 with four alleles at immediate upstream of the gene were identified. In a case-control study, the (CGG)7 allele of hmPTCH1 was found to be susceptible for HNSCC development. Concordance was seen in the expression (RNA, protein) of these genes with their molecular alterations.

Conclusions

Alterations of FANCC and PTCH1 could be used as molecular marker for early diagnosis and prognosis of HNSCC.

Keywords

Basal Cell Carcinoma Fanconi Anemia Dysplastic Lesion Mild Dysplasia Neck Lesion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgment

We thank the director of Chittaranjan National Cancer Institute, Kolkata, India. Financial support for this work was provided by grants from DST (SR/SO/BB-22/2003 dt. 02.11.04) and DBT (BT/PR/5524/Med/14/649/2004 of dt. 29.11.2005), Government of India, to C.K.P. and S.R.; CSIR-JRF/NET fellowship grant (2-56/2002(I) EU.II) to A.G.; and UGC-NET fellowship grant (F.2-3/2000 (SA-I)) to S.G.

Conflicts of interest

The authors declare that they have no conflict of interests.

Supplementary material

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Copyright information

© Society of Surgical Oncology 2011

Authors and Affiliations

  • Amlan Ghosh
    • 1
  • Susmita Ghosh
    • 1
  • Guru Prasad Maiti
    • 1
  • Sudeshna Mukherjee
    • 1
  • Nupur Mukherjee
    • 1
  • Jayanta Chakraborty
    • 2
  • Anup Roy
    • 3
  • Susanta Roychoudhury
    • 4
  • C. K. Panda
    • 1
  1. 1.Department of Oncogene RegulationChittaranjan National Cancer InstituteKolkataIndia
  2. 2.Cancer Center and Welfare HomeKolkataIndia
  3. 3.Department of PathologyMedical College and HospitalKolkataIndia
  4. 4.Human Genetics and Genomic DivisionIndian Institute of Chemical BiologyKolkataIndia

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