A Novel der(16)t(3;16)(p25;q24) in a Patient with Ovarian Cancer

Abstract

. Background: Non-random simple chromosomal aberrations in various malignancies provide important insights into the molecular pathogenesis of human cancer. Although extensive data exist on recurring chromosomal abnormalities in hematological cancer, data on individual solid tumor types remain limited. Here we present the case of a patient with ovarian cancer with a specific chromosomal abnormality. Case Report: Cytogenetic analysis utilized a Gbanding technique, which was performed with direct culture of the surgically removed cancer cells from a 23-year-old woman with grade II ovarian serous cystadenocarcinoma. The patient had no family history of ovarian cancer. Results: We report a novel der(16)t(3;16)(p25;q24) accompanied by terminal deletion of 3p25 as the simple chromosomal aberration in this case. Conclusion: To the best of our knowledge, no such translocation has been previously reported. The present study supports the possible role of both del(3)(p25) and the translocation t(3;16)(p25;q24) in ovarian cancer; nevertheless, the significance of these chromosomal changes in the development of ovarian cancer remains unknown. The significance of this finding and its role in the pathogenesis of ovarian cancer requires further clarification. Cytogenetic work-up has the potential of providing improved diagnostic and prognostic tools. Cytogenetic data also provide key background information for the recognition and identification of genes involved in cancer and their subsequent application in therapeutic development (1). The mechanisms underlying chromosomal aberrations in tumor cells are still obscure. Variable recurrent simple chromosomal aberrations have been reported for different types of cancer, including leukemia, lymphoma, and solid tumor. These single chromosomal changes might be primary events implicated in the initiation of the neoplastic process (2). Ovarian cancer is the leading cause of death in women with gynecological malignancies. The genetic mechanisms underlying the initiation and progression of ovarian cancer have not been well defined. More than 400 ovarian carcinomas with karyotypically characterized chromosomal abnormalities have been reported. Most of these are characterized by highly complex karyotypes with polyploidy and variable structural chromosomal changes (3). However, some non-random structural chromosomal aberrations have been found in ovarian cancer with common chromosomal breakpoints. The most prevalent structural rearrangements are deletions and unbalanced translocations primarily involving 1p, 1q, 3p, 3q, 6q, 7p, 10q, 11p, and 19q (2, 4-9). Here, we report an unbalanced der(16)t(3;16)(p25;q24) as the simple chromosomal aberration in a patient with ovarian serous cystadenocarcinoma. To the best of our knowledge, no such translocation has been previously reported.