Abstract
Abstract Carcinosarcoma (CS) of the uterus or the ovary, known as malignant mixed Muellerian tumor, is a biphasic neoplasm composed of malignant epithelial (carcinoma) and mesenchymal (sarcoma) elements. CS is a rare disease (two per 100,000 women) and exhibits unfavorable outcomes (5-year survival rates: uterus and ovary; 31 and 7.5%, respectively). CS has been considered as an aggressive form of high-grade endometrioid adenocarcinoma (EC), therefore, the treatment regimen for CS follows to that for EC. Nevertheless, the fact that CS shows substantially poorer prognosis than EC implies a need to identify therapeutic targets for CS. Toward this aim, we have been performing targeted resequencing with a panel of 521 genes (including 30 introns), which were previously implicated as critical not only for uterine, ovarian or sarcomatus oncogenesis but also for molecular targets in therapeutics and the panel covers 2.161 Mbp with 38,105 probes on Agilent's SureSelect. Genomic DNA was extracted from matched tumor and normal pairs derived from more than 70 cases of uterine and ovarian CS patients and then used to construct pooled libraries, which were subsequently subjected to sequencing analysis with an Illumina HiSeq sequencer. Consensus clustering with genomic changes such as mutational spectrum and number of somatic SNVs revealed several subtypes that correlate with histopathology and patient outcomes. Moreover, potentially actionable mutations or copy number aberrations were identified in a number of genes including PIK3CA, MTOR, KRAS and CCNE1. This study would provide deep insights into the development of novel diagnostic and personalized treatment for CS patients. Citation Format: Seiichi Mori, Osamu Gotoh, Sayuri Amino, Megumi Nakai, Yutaka Takazawa, Yuko Sugiyama, Tetsuo Noda. Targeted sequencing analyses of uterine and ovarian carcinosarcoma. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 70. doi:10.1158/1538-7445.AM2015-70
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