Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.

BACKGROUND: Since more than two decades Risk-reducing salpingo-oophorectomy (RRSO) is recommended and widely accepted by BRCA1/2 carriers as a method reducing ovarian cancer risk and improving survival rate. After RRSO, there remains a risk of breast cancer and peritoneal cancer. The characteristics of these neoplasms are not well known. In this study, we determined the selected parameters such as age at cancer diagnosis, time from RRSO to the diagnosis of cancer, and significance of BRCA1 mutation type in patients diagnosed with breast or peritoneal cancer during postoperative follow-up. METHODS: The material comprised of 195 BRCA1 carriers who performed RRSO between years 1999-2012. In this period, 16 patients developed cancer (6-primary breast cancer, 3-contralateral breast cancer, 5-relapse of breast cancer, 2-peritoneal cancer). They were subject of the further analysis. RESULTS: During the follow-up period mean age of patients after RRSO at the time of cancer diagnosis was 53.19. The mean age of patients diagnosed with primary breast cancer was 50, contralateral breast cancer - 58.67, recurrence of breast cancer - 51 and peritoneal cancer 60. The mean time periods from RRSO to the diagnosis of primary, contralateral, recurrence breast cancer were 53, 58.67 and 25,4 months respectively and of peritoneal cancer 46 months. BRCA1 c.5266dupC mutation carriers demonstrated significantly shorter time of cancer development compared to patients carrying c.181T > G and c.4035delA mutations. Peritoneal cancer was only observed in two c.181T > G BRCA1 mutation carriers. CONCLUSIONS: The mean age of cancer diagnosis and the mean time periods from RRSO to the diagnosis of cancer are similar to those observed by other researchers. The carriers of c.181T > G and c.5266dupC BRCA1 mutation should be the subject further studies in context of breast and peritoneal cancer risk or time of cancer development after RRSO, respectively.

Prophylactic salpingo-oophorectomy in BRCA1 mutation carriers and postoperative incidence of peritoneal and breast cancers.

BACKGROUND: There are no effective methods of diagnosis of early-stage ovarian cancer. Conservative care over patients at high risk of ovarian and breast cancers is ineffective. Prophylactic surgery is considered the best prophylaxis among BRCA1/BRCA2 carriers. METHODS: One hundred ninety-five patients, carriers of one of three most common mutations of the BRCA1 gene (Am J Hum Genet: 66: (6)1963-1968, 2000) in the Polish population (5382insC, 4153delA and C61G), who undergone prophylactic salpingo-oophorectomy. The study group consisted of consecutive mutation carriers living in Poland, in the West Pomeranian province. Histopathological examination of the surgical material failed to reveal presence of malignancy. RESULTS: During follow-up we diagnosed two peritoneal cancers and 14 breast cancers. Diagnosis of breast cancer before prophylactic surgery increased the risk of peritoneal cancer almost three times. Time from diagnosis of breast cancer to prophylactic surgery increased the risk of peritoneal cancer after prophylactic surgery. This was strongly expressed (HR = 5.0; p = 0.030) in cases of over five-year-long delay in prophylactic surgery. Diagnosis of breast cancer before prophylactic surgery correlated with the risk of death (p = 0.00010). Presence of 5382insC mutation decreased and C61G mutation increased the risk of peritoneal cancer (p = 0.049 vs. p = 0.013). CONCLUSIONS: Occurrence of primary peritoneal cancer after prophylactic surgery is similar to that reported in international literature. Primary breast cancer occurred less often than in international literature. We suspect that the risk of development of breast cancer among BRCA1 carriers undergoing prophylactic surgery can differ in a population. The next goal should be to study the molecular basis for the risk of development of malignancies in any population. Carriers of BRCA1 gene diagnosed with breast cancer should undergo prophylactic surgery within five years from the diagnosis of breast cancer.

[Characteristics of selected clinical features in BRCA1 mutation carriers affected with breast cancer undergoing preventive female genital tract surgeries]. / Charakterystyka wybranych aspektów klinicznych u kobiet, nosicielek mutacji genu BRCA1 poddanych operacjom profilaktycznym narzadu plciowego leczonych uprzednio z powodu raka piersi.

AIM: Evaluation of patient age and time of the prophylactic surgery as well as incidence of genital cancers and precancerous states observed in histopathology of the postoperative material from BRCA1 gene mutation carriers previously treated for breast cancer. MATERIAL AND METHODS: 206 carriers of one of the three most common BRCA1 gene mutations (5382insC, C61G and 4153delA) in the Polish population, who were offered the option of prophylactic salpingo-oophorectomy The study group comprised 85 patients with the diagnosis of breast cancer before gynecological preventive surgery The study group was further divided into two subgroups for more detailed assessment of the tested variables. The first subgroup included 67 patients with breast cancer (unilateral or bilateral synchronous). The second subgroup included 18 patients with bilateral metachronous (the second diagnosis of breast cancer was at least 12 months after the first breast cancer diagnosis). The control group consisted of 121 patients with no cancerous lesions before preventive gynecologic surgery The patients undergoing prophylactic treatment had no prior symptoms in female sexual organ and no changes in the diagnostic tests. RESULTS: The patients with a history of breast cancer underwent genetic testing and preventive surgery of the genital tract at a significantly later age than controls (respectively p = 0.0003, p = 0.0006). The patients with bilateral metachronous breast cancer underwent preventive surgery significantly earlier (p = 0.03). There was a trend indicating a 2.5 times higher risk of developing ovarian cancer among BRCA1 mutation carriers who had already been diagnosed and treated for breast cancer when compared to women without breast cancer diagnosis. The incidence of other genital cancers and precancerous states in BRCA1 gene mutation carriers with history of breast cancer was not statistically significant as compared to controls. Data on the clinical stage, morphological grade, histological type, age and type of pathology and the type of BRCA1 gene mutation did not show a statistically significant difference between the groups. CONCLUSIONS: Each patient diagnosed with breast cancer should be strongly recommended a genetic test to reduce adverse consequences resulting from postponing the test and, if applicable, the preventive operation until later in life. Preventive surgery should be considered especially in BRCA1 gene mutation carriers previously treated for breast cancer because of the increased risk of ovarian cancer

[Diagnostic hysteroscopy after D&C in women with perimenopausal bleeding]. / Histeroskopia diagnostyczna po przebytym zabiegu wylyzeczkowania macicy u kobiet z krwawieniami okresu okolomenopauzalnego.

OBJECTIVES: Comparative estimation of D&C and hysteroscopy as a method of receiving material to histological estimation in perimenopausal women. MATERIALS AND METHODS: In 74 women (age 46-70) during the last year before this study, D&C was performed. There were neither material nor pathologic changes in hystological estimation. Now we made hysteroscopy and again took the material to histological research. RESULTS: 29 endometrial polyps, 14 submucosus myomas, 2 endometrial hyperplasias and 2 endometrial cancers were detected. CONCLUSIONS: 1. Hysteroscopy with direct biopsy has superiority over curettage in detecting all types of intrauterine pathology, in particular focal changes. 2. Hysteroscopy should determine a method of choice for women with recurrent bleedings from the uterus, which pathological changes were not detected with curettage.

[Transvaginal ultrasonography in the diagnosis of endometrial and uterine cavity changes in perimenopausal women]. / Ultrasonografia dopochwowa w diagnostyce zmian patologicznych endometrium i jamy macicy u kobiet w okresie okolomenopauzalnym.

DESIGN: The purpose of the study was to estimate the diagnostic value of ultrasonic endometrium thickness measurement and estimation of ultrasonic endometrium qualitative features in detecting pathological changes in women in perimenopausal period. MATERIALS AND METHODS: The group of the patients consist of 242 patients in age 45-86 years, with abnormal uterine bleeding or incorrect ultrasonographic image of endometrium. In all cases transvaginal ultrasonography (TVS) and hysteroscopy were performed. RESULTS: The average thickness of endometrium in carcinoma (CA), hyperplasia (H) and polyps (P) group (properly 8.96 and 6.09 and 5.02 mm) showed essential differences in comparison with a group without changes in endometrium (3.38 mm). In group CA and H the greatest cumulation of abnormal features of ultrasonic image was ascertained. CONCLUSIONS: Ultrasonic measurement of endometrial thickness is a sensitive index in detecting cancer and pathological endometrial hyperplasia. The combination measurement of endometrial thickness and estimation of qualitative features of endometrial and uterine cavity TVS image improves results of detecting all of types of intrauterine pathology.