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Hereditary ovarian cancer – case report

Leszek Jarosław Gmyrek, Dorota Nowakowska

Affiliacja i adres do korespondencji
GIN ONKOL 2007, 5 (4), p. 236-242
Streszczenie

Hereditary causative factors are present in about 10% of ovarian cancer cases, mainly BRCA1 and BRCA2 mutations. Mean age of women developing hereditary ovarian cancer is about 10 years lower (42-45 years) than that of women with sporadic ovarian cancer (54 years). In both groups prognosis is similar. Most common histological type is serous adenocarcinoma. The paper presents a case of a 44-year-old woman, in the care of genetic outpatient clinic because of BRCA1 mutation. For the first time, the patient presented at the Centre of Oncology in Warsaw, Poland, in 2002, with results of biopsy of a breast lesion. Due to a positive family history, the patient entered of the Program of supervision of families burdened by high, genetically determined risk of malignant tumours, conducted by the Genetic Outpatient Clinic of the Institute. The patient was subjected to a regular follow-up at 6-months’ intervals. Five years after her first visit, in October 2007, transvaginal sonography revealed a small cystic lesion with endophytic excrescences in the left ovary, 3 cm in diameter, with concomitant increase of the Ca 125 level. Control study in December 2007 confirmed the presence of a cystic-solid tumour of the left ovary. The patient was qualified for surgical treatment. Surgery consisted in hysterectomy, adnexectomy, omentectomy, retroperitoneal lymphadenectomy and peritoneal biopsy. Microscopic studies of surgical specimens revealed urothelial adenocarcinoma G3. The patient was referred for paclitaxel- and carboplatin-based chemotherapy.

Słowa kluczowe
hereditary ovarian cancer, BRCA1, BRCA2, prophylaxis, diagnosis, therapy