Peritoneal Serous Borderline Tumour with Ultra-Mutated NGS Profile Including POLE E, BRAF, RB1, HER2 and P53 Mutations : A Case Report.

Abstract

Background: Serous borderline tumors of the peritoneum are rare low-grade epithelial proliferation with a tubal-type differentiation occurring in the pelvis or abdomen without underlying tissue invasion that resemble to ovarian serous borderline tumors but by definition without ovrian or tubal involvement. To date, the mutation status in molecular biology of these tumours remains largely unknown.Case presentation: Here we describe the case of a borderline peritoneal serous tumour which occurred in a 48 year old patient in whom an analysis of the mutation status by NGS technique identified a ultra-mutated profile including POLE E, BRAF, RB1, HER2 and p53 mutations.Conclusions: To the best of our knowledge, this particular mutation status has never been described in this type of tumour. It could represent an early event with transient mutations, most of them will not fixate on the genome.

Serous borderline tumour of the peritoneum- A rare entity

“…SBTs also show POLE E (DNA polymerase epsilon catalytic subunit E) mutation and ultra mutated profile. 2 KRAS/BRAF mutations are also seen in a large proportion of peritoneal SBTs. 5 As peritoneal SBTs have lower response rates to conventional treatment, targeted therapy with BRAF inhibitors could serve as an alternative effective treatment.…”

“…5 As peritoneal SBTs have lower response rates to conventional treatment, targeted therapy with BRAF inhibitors could serve as an alternative effective treatment. 2 Since SBTs of peritoneum have a relatively good prognosis, debulking of lesions with conservation of the uterus and ovaries in young females is recommended. 3 A few cases of successful pregnancies after conservative therapy have been noted.…”

“…Serous borderline tumor (SBT) of the peritoneum is a rare low grade proliferative serous epithelial tumor, fundamentally arising in the peritoneum, 1 without underlying tissue invasion. 2 In SBT of the peritoneum, bilateral ovaries and fallopian tubes are macroscopically and microscopically normal. Ovary may show minimal ovarian cortical involvement less than 5 × 5 mm 2 .…”

“…Ovary may show minimal ovarian cortical involvement less than 5 × 5 mm 2 . 2 Prior to the establishment of the term "SBT peritoneum", various other nomenclatures were utilized to describe this entity, such as primary papillary peritoneal neoplasia, atypical endosalpingiosis and peritoneal serous micropapillomatosis of low malignant potential. 3 Serous borderline tumor is an incidental finding most of the time during laparoscopic procedures done for other clinical indications.…”