Molecular cytogenetics in diagnostics of genetic abnormalities in cervical carcinoma

Authors: Petr Kuglík 1,2;  Anna Laštůvková 1,2;  Vladimíra Vallová 1,2;  Kateřina Kašíková 1,2;  Lucie Mouková 3
Authors‘ workplace: Ústav experimentální biologie, Přírodovědecká fakulta, Masarykova Univerzita, Brno, vedoucí pracoviště prof. RNDr. Jan Šmarda, CSc. 1;  Oddělení lékařské genetiky, Fakultní nemocnice, Brno, primářka prim. MUDr. Renata Gaillyová, Ph. D. 2;  Oddělení gynekologické onkologie, Masarykův onkologický ústav, Brno, primář MUDr. Josef Chovanec, Ph. D. 3
Published in: Prakt Gyn 2013; 17(1): 53-57
Category: Oncogynecology: Original Article


The oncogynecological guideline of cervical cancer treatment is mainly based on conventional histopathological prognostic factors. According to available studies, it seems that genetic defects and specific chromosomal aberrations can cause gene expression deregulation and so play an important role in the origin and the development of cervical intraepithelial neoplasia and influence the progression to cervical cancer. Especially the amplification of the human telomerase gene hTERC (3q26) and protooncogene MYCC (8q24) are associated with the progression. This study reviews the recent knowledge of the chromosomal aberration role in cervical carcinoma development and describes the multicolor HPV-FISH technique as molecular cytogenetic technique that allows common identification of HPV infected cells and amplification of the hTERC a MYCC genes in premalignant cervical dysplasia and cervical cancer cytology specimens. The test results enable to determine which samples carry high risk HPV infection and chromosomal aberrations with potential to progression in invasive cervical carcinoma. Detection of these new genetic markers can contribute to individualized targeted treatment and clarify follow-up.

Key words:
diagnostics of genetic abnormalities – cervical carcinoma/cancer – cervical intraepithelial neoplasia –molecular cytogenetics – human telomerase gene hTERC (3q26) – protooncogene MYCC (8q24)


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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine

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