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Glandular odontogenic cyst (sialo-odontogenic cyst) ( GOC) is an uncommon developmental odontogenic cyst. Its clinical significance lies in its tendency to recur, and histopathological features which mimic those of mucoepidermoid carcinoma ( MC). Molecular methods such as fluorescence in situ hybridisation ( FISH) have the potential to identify genetic abnormalities that are specific to MC and thus avoid this diagnostic pitfall. This report describes three cystic lesions of the jaws with a differential diagnosis of GOC and MC. One occurred in the mandibular premolar area of a 49-year-old woman and was diagnosed as GOC. The second developed in the maxilla of a man aged 39 in association with an impacted second premolar tooth. This was initially diagnosed as dentigerous cyst, but after recurrence 6 years later, the diagnosis was revised to GOC. The third occurred in the left retromolar area of a 30-year-old woman 5 years after the extraction of the left mandibular third molar; a diagnosis of GOC was favoured after two incisional biopsies, but a third showed unequivocal, invasive MC which had infiltrated nerves and bone. Morphologically, the only distinguishing feature was the so-called epithelial sphere, whorl or plaque-like thickening, which was identified in both GOC but not in the MC. FISH confirmed the above diagnoses by demonstrating a MAML2 rearrangement in the MC, but in neither of the GOC. While histopathology may reliably distinguish between GOC and MC, the presence of the specific MAML2 rearrangement in the latter clinches the diagnosis. [ABSTRACT FROM AUTHOR]

To gain insight into the mitochondrial gene pool diversity of European populations, we studied mitochondrial DNA (mtDNA) variability in 207 subjects from western and eastern areas of Slovakia. Sequencing of two hypervariable segments, HVS I and HVS II, in combination with screening of coding region haplogroup-specific RFLP-markers, revealed that the majority of Slovak mtDNAs belong to the common West Eurasian mitochondrial haplogroups (HV, J, T, U, N1, W, and X). However, a few sub-Saharan African (L2a) mtDNAs were detected in a population from eastern part of Slovakia. In addition, about 3% of mtDNAs from eastern Slovakia encompass Roma-specific lineages. By means of complete mtDNA sequencing we demonstrate here that the Roma-specific M-lineages observed in gene pools of different Slavonic populations (Slovaks, Poles and Russians), belong to Indian-specific haplogroups M5a1 and M35. Moreover, we show that haplogroup J lineages found in gene pools of the Roma and some Slavonic populations (Czechs and Slovaks) belong to new subhaplogroup J1a, which is defined by coding region mutation at position 8460. [ABSTRACT FROM AUTHOR]

Aims: Salivary duct carcinoma is a highly malignant salivary gland tumour with aggressive clinical behaviour, characterized by histological resemblance to invasive ductal carcinoma of the breast. Amplification of HER-2/neu oncogene and over-expression of its gene product have both prognostic and therapeutic implications in breast cancer. Recent report on salivary duct carcinomas for HER-2/neu using immunohistochemistry (IHC) has shown over-expression in most cases. However, correlation between IHC and molecular genetic analysis of HER-2/neu in salivary duct carcinoma has not yet been performed. Methods and results: We have now evaluated 11 cases of salivary duct carcinomas for HER-2/neu status using IHC and fluorescent in-situ hybridization (FISH). To our knowledge, this is the first molecular genetic analysis of HER-2/neu in salivary duct carcinoma. Conclusions: In immunohistochemistry, over-expression of HER-2/neu protein was identified as distinct membrane staining in most carcinoma cells in all our salivary duct carcinoma cases, while only four cases revealed an amplification of HER-2/neu gene by means of FISH analysis. Both amplified and non-amplified salivary duct carcinomas with strong immunohistochemical staining for HER-2/neu protein were associated with poor clinical outcome for the patients. Apparently, HER-2/neu protein over-expression could also be controlled by mechanisms other than gene amplification. In the group of salivary gland tumours other than salivary duct carcinoma, strong over-expression was detected only in three cases of carcinoma ex pleomorphic adenoma. Thus, over-expression of HER-2/neu protein is also a useful marker of malignant transformation in pleomorphic adenomas. [ABSTRACT FROM AUTHOR]

Analysis of Y chromosome Y-STRs has proven to be a useful tool in the field of population genetics, especially in the case of closely related populations. We collected DNA samples from 169 males of Czech origin, 80 males of Slovakian origin, and 142 males dwelling Northern Poland. We performed Y-STR analysis of 12 loci in the samples collected (PowerPlex Y system from Promega) and compared the Y chromosome haplotype frequencies between the populations investigated. Also, we used Y-STR data available from the literature for comparison purposes. We observed significant differences between Y chromosome pools of Czechs and Slovaks compared to other Slavic and European populations. At the same time we were able to point to a specific group of Y-STR haplotypes belonging to an R1a haplogroup that seems to be shared by Slavic populations dwelling in Central Europe. The observed Y chromosome diversity may be explained by taking into consideration archeological and historical data regarding early Slav migrations., (Copyright 2010 Wiley-Liss, Inc.)