Cytogenetic and Molecular Analysis of Female Genital Tract Tumours

Cancer of the female genital tract is the third most common group of malignancies in women, exceeded in frequency only by cancer of the breast and digestive tract. Most of the cancers are of the ovaries and uterus, but tumors also occur in the fallopian tubes, vulva, and vagina. In recent decades, genetic analysis of tumor cells has shed considerable light on the mechanisms of tumorigenesis and is increasingly relied upon to provide prognostic and diagnostic information about cancer diseases.

Cancers of the female genital tract are among the least well characterized in this regard, however. The general purpose of our research is to understand the pathogenesis of cancer in cytogenetic and molecular terms so as to improve the classification and diagnosis of cancerous diseases, opening up the possibility of finding specific medical treatments that counteract exactly those molecular rearrangements that render the cells neoplastic.
The following tumors or subprojects are the focus of our scientific attention and will remain so for the coming years.

• Endometrial carcinomas
• Endometrial stromal sarcomas
• Carcinosarcomas of the uterus and ovaries
• Ovarian carcinomas
• Tumors of the vulva

The starting point for all tasks/investigations is the karyotypic findings in the various tumors. As underlined in the title of the proposal, our investigations begin with the identification of a chromosomal aberration and then continue with its detailed characterization at a higher level of resolution, from chromosome to DNA (in search of specific mutations and/or epigenetic changes) and RNA (in search of fusion genes, truncated transcripts, and/or differentially expressed genes). Finding the pathogenetically essential aberration (be it a mutation, fusion gene or something else) in different types of cancer and even in individual neoplasms is key to more specific therapies along the principle of "personalized medicine". Ideally, each patient should be treated individually, and to identify the pathogenetic mechanism active in each tumor is a prerequisite for eventually arriving at tailor-made treatments.

The interest behind the project started more than 30 years ago (1994). The project started to be fully ongoing around 1998.

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