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Disparate genomic characteristics of concurrent endometrial adenocarcinoma and ovarian granulosa cell tumor,revealed by targeted next-generation sequencing |
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| Authors: | Youn Jin Choi Jungyoon Ho Ahwon Lee Soo Young Hur Hyeon-Chun Park Jong Sup Park Yeun-Jun Chung Sug Hyung Lee |
| Affiliation: | 1. Departments of Gynecology and Obstetrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea;2. Departments of Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea;3. Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea;4. Departments of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea;5. Departments of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea;6. Cancer Evolution Research Center, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea |
| Abstract: | Concurrence of both endometrial adenocarcinoma and ovarian adult granulosa cell tumor (aGCT) is believed to be related to high estrogen milieu, but genomic alterations of the concurrent endometrial adenocarcinoma and aGCT are not known. For this, we analyzed an uterine endometrial adenocarcinoma and an ovarian aGCT in a same patient by a targeted next generation sequencing (NGS). We found a germline mutation in STK11 (p.L113fs). The endometrial adenocarcinoma harbored FGFR2 and TP53 mutations and the aGCT harbored a FOXL2 (p.C134?W) mutation. These germline and somatic mutations have been reported in non-concurrent tumors. These two tumors harbored 20 CNAs but only one CNA was exactly overlapped in the tumors. Our findings indicate that the concurrent endometrial adenocarcinoma and aGCT in this patient might not be genetically related to each other at germline or somatic level and suggest that such concurrence might be originated from non-genetic backgrounds including stimulated estrogen milieu. |
| Keywords: | Concurrent cancers Endometrial adenocarcinoma Mutation Ovarian adult granulosa cell tumor Targeted next-generation sequencing |
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