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Mitochondrial genotype in vulvar carcinoma - cuckoo in the nest

Aleksandra Klemba12, Magdalena Kowalewska3, Wojciech Kukwa4, Katarzyna Tonska1, Aleksandra Szybinska5, Malgorzata Mossakowska5, Anna Scinska4, Paweł Golik16, Kamil Koper1, Jakub Radziszewski7, Andrzej Kukwa4, Anna M Czarnecka12* and Ewa Bartnik16

Author Affiliations

1 Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, ul. Pawinskiego 5A, 02-106, Warsaw, Poland

2 Laboratory of Molecular Oncology, Department of Oncology, Military Institute of the Health Services, ul. Szaserow 128, 04-141 Warsaw, Poland

3 Maria Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology, Department of Molecular Biology, 5 Roentgena, 02-781 Warsaw, Poland

4 Department of Otolaryngology, Czerniakowski Hospital, Medical University of Warsaw, 19/25 Stepinska Street, 00-739 Warsaw, Poland

5 International Institute of Molecular and Cell Biology in Warsaw, 4 Ks. Trojdena Street 02-109 Warsaw, Poland

6 Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 5A Pawinskiego, 02-106 Warsaw, Poland

7 Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Department of Brachytherapy, 5. Roentgena, 02-781 Warsaw, Poland

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Journal of Biomedical Science 2010, 17:73  doi:10.1186/1423-0127-17-73

Published: 8 September 2010

Abstract

Vulvar squamous cell carcinoma (VSCC) is a rare female genital neoplasm. Although numerous molecular changes have been reported in VSCC, biomarkers of clinical relevance are still lacking. On the other hand, there is emerging evidence on the use of mtDNA as a diagnostic tool in oncology. In order to investigate mtDNA status in VSCC patients, haplogroup distribution analysis and D-loop sequencing were performed. The results were compared with available data for the general Polish population, cancer free-centenarians as well as patients with endometrial and head and neck cancer. The obtained data were also compared with the current status of mitochondrial databases. Significant differences in haplogroup distribution between VSCC cohort, general Polish population and cancer-free centenarians cohort were found. Moreover, a correlation between the VSCC patients haplogroup and HPV status was observed. Finally, a specific pattern of mtDNA polymorphisms was found in VSCC. Our results suggest that the mitochondrial genetic background may influence the risk of VSCC occurrence as well as susceptibility to HPV infection.