Lege Artis Medicinae

[OVARIAN CHORIOCARCINOMA - A MOLECULAR PATHOLOGIC APPROACH TO DIFFERENTIAL DIAGNOSIS]

ERÉNYI Éva, SZIGETVÁRI Iván, ANDRIKOVICS Hajnalka, TORDAI Attila, URBÁN Márta, SIMON Károly

FEBRUARY 21, 2006

Lege Artis Medicinae - 2006;16(02)

[INTRODUCTION - Gestational and non-gestational choriocarcinoma, the two types of choriocarcinoma with distinct aetiologies, cannot be differentiated by conventional histological or immunohistochemical methods. In certain cases the verification of the origin of the tumour by molecular biological techniques is essential for prognostic and therapeutic reasons. CASE REPORT - A 22-year-old woman presenting with acute abdominal pain was examined and operated on. During surgery a tumour was found in the right ovary. “Pure” choriocarcinoma was histologically diagnosed and gestational origin was supposed based on the distinct clinical features and histological picture. This was subsequently confirmed by molecular genetic testing. Parallel VNTR (variable number of tandem repeats) analysis by PCR of DNA from the tumour tissue and the patient's peripheral blood was performed. The pattern showed the presence of an allele presumed to be of paternal origin. (Blood sample from the father was not available.) One regimen of Vepesid, Cisplatina and Bleomycin was applied, and more than three years after the diagnosis the patient is free of disease. CONCLUSION - Multidisciplinary cooperation led to an accurate diagnosis and successful treatment. Non-radical surgery with the preservation of fertility followed by proper early chemotherapy provided excellent results.]

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[The pathogenesis of inflammatory bowel disease is only partly understood; various environmental and host factors (e.g., genetic, epithelial, immune and non-immune) are involved. It is a multifactorial polygenic disease probably with genetic heterogeneity; some genes confer susceptibility to IBD in general, while others specifically increase the risk of ulcerative colitis or Crohn's disease or affect location (localized or extensive) and/or behaviour (e.g., mild, severe, aggressive). This review presents recent advances in the genetics of inflammatory bowel disease including chromosome segments newly recognized to be involved in inflammatory bowel disease as well as the role of NOD2/CARD15, SLC22A4/A5 and DLG5. The increasing genetic information provides, for the time being, a better understanding of the pathogenesis of the disease thus setting a basis for potential targets for therapeutic intervention. In the future, however, genetics may also help in refining the diagnosis or predicting disease course.]

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[Nobel prize for medicine and physiology in 2005. - The Helicobacter pylori-story in Hungary]

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