Chromosome aberrations [dup(1q)] in endometrial cancer: Gene analysis of 54 surgical specimens in Turkey

Objective: We aimed to evaluate the frequency of chromosomal aberrations and mutations in the k-ras or Her-2/neu genes in surgical specimens of endometrial carcinoma and their association with clinicopathological findings. Materials and methods: Fifty-four patients who were treated for endometrial cancer between April 2010 and May 2011 at the Kocaeli University Obstetrics and Gynecology Department, Kocaeli, Turkey were enrolled in a prospective study. Clinical and histopathological findings were recorded. Genetic analysis, which included the detection of chromosomal deletions and duplications, as well as k-ras and Her-2/neu mutations, was performed on endometrial samples from surgical specimens. Results: In 70% of cases, tumor size was >2 cm or covered the entire uterine cavity, affecting mostly corpus (76%) and invading less than half of the myometrium (80%). Forty-six cases (86%) had endometrioid-type carcinoma, and early stage (Stage I, 65%) and higher grade (Grade II-III 66%) tumors were predominant. Lymph node and lymphovascular involvement was positive in 11% and 28% of the patients, respectively. Chromosomal aberrations (deletion or duplication) and Her-2/neu and k-ras mutations were encountered in 44%, 15%, and 13% of surgical specimens, respectively. The most common chromosomal aberration was dup(1q) (n = 16). Oncogenic mutations in Her-2/neu or k-ras had no association with the severity of endometrial cancer, but the presence of chromosomal aberrations, as a whole or dup(1q) alone, were associated with higher tumor size, deeper myometrial invasion, advanced stage or grade, lymphovascular invasion, and lymph node involvement (p < 0.05 for all). Conclusion: Chromosomal aberrations, particularly dup(1q), are related to advanced disease in endometrial cancer. Genetic analysis of cancer tissues may provide important insights in determining disease prognosis. Copyright (C) 2016, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC.