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Pathology oncology research : POR
Apr, 2015;21 (2): 413-21.

Mutational Status of CDKN2A and TP53 Genes in Laryngeal Squamous Cell Carcinoma.

Teodora A Todorova, Stanislav H Jordanov, Gergana S Stancheva, Ivan J Chalakov, Mincho B Melnicharov, Kuncho V Kunev, Vanio I Mitev, Radka P Kaneva, Teodora E Goranova
Author Information
  1. Teodora A Todorova: Molecular Medicine Center, Medical University-Sofia, 2 Zdrave street, Sofia, 1431, Bulgaria.
PMID: 25149524 DOI: 10.1007/s12253-014-9836-0

Abstract

Laryngeal squamous cell carcinoma (LSCC) is the second most common tumour of the head and neck. It is characterized by frequent aberrations in two cell-cycle regulators--CDKN2A and TP53. However, LSCC has been often studied as a part of the group of head and neck cancers and not as an individual entity. In the current study we aimed to examine mutation status of CDKN2A and TP53 genes in 108 LSCC patients. DNA was extracted from fresh-frozen tumour tissues; exons 1-3 of CDKN2A and exons 5-8 of TP53 were screened for mutations by direct sequencing. Genetic aberrations in CDKN2A were found in 16 (14.2%) and those in TP53--in 56/108 (51.9%) tumours. Seven mutations (two insertions, three deletions, one missense and one silent) detected in CDKN2A were not described previously. Also, we found seven novel deletions and a novel indel in TP53. No significant associations with clinical features were found. However, TP53 mutations were predominantly observed in smokers with advanced stage tumours. Screening for genetic aberrations in a defined group of LSCC contributes to the knowledge about laryngeal carcinogenesis. Further investigations are required to confirm the observed trends in associations with clinical features.

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MeSH Term

Carcinoma, Squamous Cell
Cyclin-Dependent Kinase Inhibitor p16
DNA, Neoplasm
Female
Genes, Neoplasm
Head and Neck Neoplasms
Humans
Laryngeal Neoplasms
Male
Middle Aged
Mutation
Prognosis
Sequence Analysis, DNA
Tumor Suppressor Protein p53

Chemicals

Cyclin-Dependent Kinase Inhibitor p16
DNA, Neoplasm
TP53 protein, human
Tumor Suppressor Protein p53
Journal Article Research Support, Non-U.S. Gov't

Word Cloud

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