302PD - Targeted sequencing of a specific gene panel detects a high frequency of ARID1A and PIK3CA mutations in endometrioid and clear cell ovarian cancer

Date 17 December 2016
Event ESMO Asia 2016 Congress
Session Gynaecological cancers
Topics Ovarian Cancer
Translational Research
Presenter TZE-KIONG Er
Citation Annals of Oncology (2016) 27 (suppl_9): ix94-ix103. 10.1093/annonc/mdw585
Authors T. Er1, Y. Su2, C. Wu3, C. Chen4, E. Tsai2
  • 1Department Of Laboratory Medicine, Asia University Hospital, Asia University, 41354 - Taichung/TW
  • 2Department Of Obstetrics And Gynecology, Chung-Ho Memorial Hospital,Kaohsiung Medical University Hospital, 807 - Kaohsiung/TW
  • 3Department Of Pathology, Chung-Ho Memorial Hospital,Kaohsiung Medical University Hospital, 807 - Kaohsiung/TW
  • 4Institute Of Medical Science And Technology, National Sun Yat-sen University, Kaohsiung, Taiwan, 80424 - Kaohsiung/TW



Epithelial ovarian cancer is the fifth leading cause of cancer death among women with significant morbidity and mortality. Studies showed that many genetic factors play an important role in the development of epithelial ovarian cancer. The aim of this study was to assess the mutational profile in epithelial ovarian cancer using formalin-fixed, paraffin-embedded (FFPE) tumors from a Taiwanese population by performing targeted sequencing of 9 cancer-associated genes.


Targeted sequencing was performed in 32 formalin-fixed, paraffin-embedded (FFPE) tumor specimens, consisting of matched paired samples from 16 epithelial ovarian cancer patients. A custom panel was designed to target 9 cancer genes. Genetic alterations in the 9 cancer-associated genes were detected using a deep sequencing (>1000X) approach. All the deleterious mutations were then reconfirmed using Sanger sequencing.


ARID1A, PIK3CA, and KRAS were most frequently mutated genes. Most remarkably, ARID1A mutations and PIK3CA mutations, which accounted for 56.3% and 50% of tumors, respectively. Other genes including MLH1 (6.3%) and CREBBP (6.3%) were identified in our population. Notably, we identified coexistent ARID1A- PIK3CA mutations (43.8%) and ARID1A-KRAS mutations (12.5%), respectively, in tumors.


In summary, our study shows the feasibility of performing targeted sequencing using formalin-fixed, paraffin-embedded samples. Further studies are needed to elucidate the mechanism of chromatin remodeling and PI3K/AKT pathway to its critical role of tumor development and progression in ovarian malignancy and to investigate new cancer therapy targeting.

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All authors have declared no conflicts of interest.