Iva Slámová

Initial Experience with Determination of hTERC and MYCC Amplification in Cervical Intraepithelial Neoplasia and Cervical Carcinoma in the Czech Republic

Tumors are frequently characterized by series of cytogenetic abnormalities. Amplifications of hTERC (3q26) and MYCC (8q24) genes have been associated with cervical intraepithelial neoplasia (CIN) and carcinoma of uterine cervix. The results of genetic analysis could select patients with high risk of progression from CIN to carcinoma. In this study, chromosomal abnormalities in cytology specimens of cervical carcinoma or CIN of 26 patients were analyzed using new developed triple-colour HPV-FISH assay. HPV infection was proven in 85 % (22/26) of patients. Amplification of hTERC and MYCC gene was found in 46 % (12/26) and 62 % (16/26) of patients, respectively. Based on these results we were able to divide patients into high-risk, medium-risk and low-risk group. We confirmed that HPV-FISH assay can be used as an effective diagnostic procedure to identify patients carrying highly risking HPV infection and chromosomal aberrations associated with this malignancy. Patients of the high-risk group would benefit from intensive dispensarisation and aggressive therapy in the future. Tumors are frequently characterized by series of cytogenetic abnormalities. Amplifications of hTERC (3q26) and MYCC (8q24) genes have been associated with cervical intraepithelial neoplasia (CIN) and carcinoma of uterine cervix. The results of genetic analysis could select patients with high risk of progression from CIN to carcinoma. In this study, chromosomal abnormalities in cytology specimens of cervical carcinoma or CIN of 26 patients were analyzed using new developed triple-colour HPV-FISH assay. HPV infection was proven in 85 % (22/26) of patients. Amplification of hTERC and MYCC gene was found in 46 % (12/26) and 62 % (16/26) of patients, respectively. Based on these results we were able to divide patients into high-risk, medium-risk and low-risk group. We confirmed that HPV-FISH assay can be used as an effective diagnostic procedure to identify patients carrying highly risking HPV infection and chromosomal aberrations associated with this malignancy. Patients of the high-risk group would benefit from intensive dispensarisation and aggressive therapy in the future.

Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

We report an infant with a unique combination of 22q11 deletion syndrome and 14q terminal deletion syndrome. The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome. G-banding and fluorescence in situ hybridization analyses revealed a karyotype 45,XY,der(14)t(14;22)(q32.3;q11.2),-22.ish del(14)(q32.33)(D14S1420-),del(22)(q11.2q11.2)(N25-). Subsequent analyses disclosed a translocation between chromosomes 14 and 22 in the proband’s mother with a deleted 14q telomere. Using comparative genome hybridization on oligonucleotide-based microarray (array-CGH), the deletion at 22q11.21 in the size of ∼4.25 Mb was revealed in the proband as well as the deletion of the telomeric area at 14q32.33qter (∼3.24 Mb) in the proband and his mother. However, both the proband and his mother showed mild symptoms (microcephaly, thin lips, carp-shaped mouth) typical for patients with the described terminal 14q deletion syndrome.