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Original Contribution Initial Experience with Determination of hTERC and MYCC Amplification in Cervical Intraepithelial Neoplasia and Cervical Carcinoma in the Czech Republic Lucie Moukova, 1 Vladimira Vranova, 2 Iva Slamova, 3 Miroslava Kissova 3 and Petr Kuglik 4 1. Gynaecological Oncologist, Department of Gynaecological Oncology, Masaryk Memorial Cancer Institute; 2. Clinical Cytogeneticist; 3. Cytogeneticist; 4. Associate Professor and Medical Geneticist, Laboratory of Molecular Cytogenetics, Faculty of Science, Institute of Experimental Biology, Masaryk University, Brno, Czech Republic Abstract Tumours are frequently characterised by series of cytogenetic abnormalities. Amplifications of the human telomerase gene hTERC (3q26) and myelocytomatosis-C proto-oncogene MYCC (8q24) have been associated with cervical intraepithelial neoplasia (CIN) and carcinoma of the uterine cervix. The results of genetic analysis allow to select patients at high risk of progression from CIN to carcinoma. Our group conducted a study in which the chromosomal abnormalities found in the cytology specimens of 26 patients with either cervical cancer or CIN were analysed using the recently developed triple-colour human papillomavirus-fluorescence in situ hybridisation (HPV-FISH) assay. HPV infection was proven in 22 (85 %) patients. Amplification of MYCC and hTERC was found in 11 (42 %) and 16 (62 %) patients, respectively. Based on these results, the patients were divided into high-risk, medium-risk and low-risk groups. The study confirmed that the HPV-FISH assay can be used as an effective diagnostic procedure to identify patients carrying high-risk HPV infection and chromosomal aberrations associated with the development of malignancy. Patients in the high-risk group would require more frequent folllow-up and aggressive therapy. Keywords Cervical cancer, cervical intraepithelial neoplasia, hTERC, MYCC, gene amplification, fluorescence in situ hybridisation, genetic abnormalities Disclosure: The authors have no conflicts of interest to declare. Acknowledgements: The pilot project described in this article was supported by the following programmes of the Czech Ministry of Health: research grant IGA MZ NT11089-4/2010 and FUNDIN MZ0MOU2005. Received: 9 December 2011 Accepted: 6 January 2012 Citation: European Oncology & Haematology, 2012;8(2):92–6 Correspondence: Lucie Moukova, Masaryk Memorial Cancer Institute, Department of Gynaecological Oncology, Zluty kopec 7, 656 53 Brno, Czech Republic. E: moukova@mou.cz Carcinoma of the uterine cervix is the second most common form of cancer in women worldwide. In the Czech Republic, it has an incidence of 19/100 000 women and a mortality rate of 7/100,000 women. 1 There are two main types of cervical cancer, squamous cell carcinoma and adenocarcinoma, as well as a variety of much less common types (endometroid adenocarcinoma, clear cell adenocarcinoma, serous adenocarcinoma, mesonephris adenocarcinoma, adenosquamous carcinoma, adenoid cystis carcinoma, small cell carcinoma and metastatic tumours). Among the two main types, squamous cell carcinoma (see Figure 1) is more common than adenocarcinoma by a ratio of approximately 85:15. Several pre-malignant stages, known as cervical intraepithelial neoplasia (CIN) or cervical dysplasia, are related to the development of invasive carcinoma. These stages can be distinguished and graded histologically. Changes in less than one-third of epithelial cells indicate mild dysplasia (CIN I). Defects in cell maturation and nucleocytoplasmic ratio changes with frequent mitosis in two-thirds of epithelial cells are characteristic of moderate-to-marked dysplasia (CIN II). Defects in cell maturation with frequent atypical mitosis across the entire epithelium indicate severe dysplasia/carcinoma 92 in situ (CIN III). The ratio of pre-malignant squamocellular cancer to glandular neoplasia is about 60–80:1. Risk factors for the development of cervical cancer include a high number of sexual partners, multiparity, young age at first pregnancy, smoking, ethnicity, sexual intercourse before the age of 16, immunodeficiency, coincidence of sexually transmitted diseases, and other factors such as vitamin C and folate deficiency. 2,3 The genetic basis of progression from CIN I to CIN II/III and on to invasive carcinoma is poorly understood. Although infection with high-risk human papillomavirus (HPV) is recognised as an essential initiating event in cervical tumourigenesis, 4 this alone is not sufficient to explain the progression to invasive cancer. A number of cell regulators are involved in the process. Certain chromosomal aberrations have been associated with the progression of CIN to carcinoma, especially the amplification of the human telomerase gene hTERC (3q26) and the myelocytomatosis-C proto-oncogene MYCC (8q24); 5,6 hTERC is involved in the maintenance of chromosomes by providing telomerase stability and regulating telomerase length; MYCC is a transcription factor that participates in cell proliferation and differentiation. 7 © TOUCH BRIEFINGS 2012