Article Text

Download PDFPDF

618 Genetic profile by whole exome sequencing of borderline ovarian tumors: series of 32 patients
  1. D Atallah1,
  2. I El Feghaly2,
  3. E Choueiry3,
  4. N Jalkh4,
  5. A Khaddage5,
  6. M Akiki6,
  7. H Kourie7,
  8. N El Kassis1,
  9. G Chahine7 and
  10. M Moubarak1
  1. 1Hôtel-Dieu de France University Hospital, Saint Joseph University , Obstetrics and Gynecology , Beirut , Lebanon
  2. 2Hôtel-Dieu de France, Saint Joseph University , Beirut , Lebanon
  3. 3Lebanese American University , Human Genetics , Beirut , Lebanon
  4. 4Saint Joseph University, Medical Genetics Unit, Beirut , Lebanon
  5. 5Hôtel-Dieu de France University Hospital, Saint Joseph University , Pathology, Beirut , Lebanon
  6. 6Hôtel-Dieu de France University Hospital , Pathology, Beirut , Lebanon
  7. 7Hôtel-Dieu de France University Hospital, Saint Joseph University , Oncology , Beirut , Lebanon


Introduction/Background*Borderline ovarian tumors are defined as non-invasive epithelial ovarian tumors which can have an intraperitoneal extension. Molecular studies have shown a correlation between the patient‘s response to chemotherapeutic treatments adjunct to surgery and the tumor’s genetic profile, especially related to the KRAS and BRAF genes. This study aims to assess the molecular profile of

BOTs in the Lebanese population by Whole Exome Sequencing (WES) and correlate the results with patients‘ clinical profiles.

Methodology 33 tumors belonging to 32 Lebanese patients presenting with BOTs, diagnosed at Hôtel Dieu de

France were included A total of 234 genes involved in different germinal and somatic types of cancer were analyzed using Next Generation Sequencing in the 33 included tumors. Genetic variants detected in more than 5% of the reads, with a sequencing depth ≥ 50x, were selected.

Result(s)*Among 33 tumors, 18 were serous, 12 mucinous and 3 sero-mucinous. Molecular analysis of tumors allowed us to detect mutations in genes involved in the MAP Kinase (MAPK) cascade and in the DNA repair mechanism. Our initial analysis revealed an association between defects in DNA Double-Strand Break repair and occurrence of mucinous BOT, in 75% of cases. Mutations affecting MAPK signaling pathway were detected in 46.9% of BOT.

Conclusion*Here we report the molecular profile of BOT in the Lebanese population. This is the first study associating the DNA repair pathway to BOT. The inclusion of further patients is essential to validate our hypothesis and to better delineate the mechanisms of the disease, thus allowing the implementation of targeted therapeutic approaches.

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.