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454 Genetic profile by whole exam sequencing of a patient’s borderline tumor and its relapse: a case report
  1. D Atallah1,
  2. I El Feghaly2,
  3. E Choueiry3,
  4. N Jalkh4,
  5. C Mehawej3,
  6. H Kourie5,
  7. A Khaddage6,
  8. M Akiki7,
  9. N El Kassis1,
  10. G Chahine5 and
  11. M Moubarak8
  1. 1Hôtel-Dieu de France University Hospital, Obstetrics and Gynecology , Beirut , Lebanon
  2. 2Hôtel-Dieu de France University Hospital , Beirut , Lebanon
  3. 3Lebanese American University, Human Genetics , Beirut , Lebanon
  4. 4Saint Joseph University , Unité de Génétique Médicale , Lebanon
  5. 5Hôtel-Dieu de France University Hospital, Saint Joseph University , Oncology, Beirut , Lebanon
  6. 6Hôtel-Dieu de France University Hospital, Saint Joseph University, Pathology, Beirut , Lebanon
  7. 7Hôtel-Dieu de France University Hospital , Pathology, Beirut , Lebanon
  8. 8Hôtel-Dieu de France University Hospital, Saint Joseph University , Obstetrics and Gynecology , Beirut , Lebanon


Introduction/Background*Borderline ovarian tumors (BOT) are low malignant potential lesions with a good prognosis that represent around 15% of all epithelial tumors of the ovary. In addition to that, 30% of patients with

BOT are less than 40 years old which makes the preservation of fertility a key point in management.

Molecular studies in ovarian cancer have shown a correlation between the genetic profile of the tumor and the patient‘s prognosis

Methodology We report the case of a 25-year-old patient, G0P0A0, diagnosed with a mucinous borderline right ovarian tumor back in 2005. In 2009, during a routine control ultrasound, another ovarian cyst was identified on the right side. She was operated again of a cystectomy and peritoneal staging and histopathology confirmed the mucinous nature of the tumor. FIGO stage was IA in both cases. The two blocs of tumors underwent a full exome sequencing technique in order to identify possible key mutations.

Result(s)*Both tumors had variations of EGFR, FGFR3, BRCA1, STK11, NTKR1 and PIK3CA genes. However, the first tumor also had a KRAS mutation that wasn’t found in the second lesion four years later. KRAS variants have been shown to be present in low grade ovarian cancer and well-differentiated tumors.

Conclusion*Borderline tumors often recurs in form of borderline tumor but the genetic profile should not be the same as the primary tumor, as shown in our case report. Loss of KRAS could explain the recurrence of the disease. Seeing that the molecular profile of the tumor is in constant change, a continuity in the spectrum normal-benign-borderline-malignant could be hypothesized.

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