Aleksandra Klemba1,2, Magdalena Kowalewska3, Wojciech Kukwa4, Katarzyna Tonska1, Aleksandra Szybinska5, Malgorzata Mossakowska5, Anna Scinska4, Paweł Golik1,6, Kamil Koper1, Jakub Radziszewski7, Andrzej Kukwa4, Anna M Czarnecka1,2*, Ewa Bartnik1,6 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. | Klemba et al. Journal of Biomedical Science 2010 17 73 http content 17 1 73 The cost of publication in Journal of Biomedical Science Is borne by the National Science Council Taiwan JOURNAL OF BIOMEDICAL SCIENCE RESEARCH Open Access Mitochondrial genotype in vulvar carcinoma -cuckoo in the nest A Iolzc2 nrlKT1 IClomhiH1 2 K isinH 2 IcintD ICn A 2 lo A clz23 A nif ior l i ki ilz A 24 kAi 3r 7 n3 Tnncl Tỉ1 A C 7 Hine 1 3 5 AiekSallUla Klembd Mdgddlend Kovvdlevvskd Wojciech Kukvvd lonskd AlckSdllUld szybinskd l l2Innr 73i 3 MincoL VA cIn5 Ann2 Cnincl 34 DeitA of CAnlilz1 6 kAmil ICnnor1 HLi ih D HTiczotA cIzi7 A nHrToi ICi ilz A 24 Mdiyuizdld iviossdkowskd Al II Id scinskd rdwei Golik Kdmil Koper Jdkub Rddziszewski Andrzej KUkWd Annd M Czdrneckd1 2 Ewd Bdrtnlk1 6 Abstract Vulvdr squdmous cell cdrcinomd VSCC is d rdre femdie genitdl neopldsm. Although numerous moleculdr chdnges hdve been reported in VSCC biomdrkers of clinicdl relevdnce dre still ldcking. On the other hdnd there is emerging evidence on the use of mtDNA ds d didgnostic tool in oncology. In order to investigdte mtDNA stdtus in VSCC pdtients hdplogroup distribution dndlysis dnd D-loop sequencing were performed. The results were compdred with dvdildble ddtd for the general Polish populdtion cdncer free-centendridns ds well ds pdtients with endometridl dnd hedd dnd neck cdncer. The obtdined ddtd were dlso compdred with the current stdtus of mitochondridl ddtdbdses. Significdnt differences in hdplogroup distribution between VSCC cohort general Polish populdtion dnd cdncer-free centendridns cohort were found. Moreover d correldtion between the VSCC pdtients hdplogroup dnd HPV stdtus wds observed. Findlly d specific pdttern of mtDNA polymorphisms wds found in VSCC. Our results suggest thdt the mitochondridl genetic bdckground mdy influence the risk of VSCC occurrence ds well ds susceptibility to HPV infection. Introduction Vulvar squamous cell carcinoma VSCC is a rare .