[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

[Features of pubescence in patients with pure gonadal dysgenesis in the course of a hormonally active tumor--case report]. / Cechy dojrzewania plciowego u pacjentek z czysta dysgenezja gonad w przebiegu hormonalnie czynnego guza--opis przypadków.

Germ cell tumors are the most frequent ovarian neoplasms among girls and young women under the age of 25. Female patients with gonadal dysgenesis are at higher risk of germ cell tumors. Two cases of women with pure gonadal dysgenesis were described. A hormonally active tumor secreting estrogens, caused the development of sexual features and genital tract bleeding what imitated premature puberty. It needs to be emphasized that the presence of sexual features does not exclude dysgenesis - a pathology that is connected with an increased risk of gonadal tumors--and that the ultrasound evaluation, during which the presence of follicles in gonads is evaluated, is essential.

Evaluation of serum levels of sCD30L ligand in patients with ovarian cancer in terms of selected clinico-pathological factors.

AIM OF THE STUDY: The CD30L ligand is a membrane-associated glycoprotein expressed by activated CD4(+)Th cells, macrophages, dendritic cells, and B lymphocytes. It binds to the CD30 receptor carried on activated and helper Th cells, inducing the immune response and apoptosis. The aim of this retrospective study was to determine the level of sCD30L in the serum of patients at diagnosis of ovarian cancer and at relapse and to assess the potential association of this ligand with selected clinico-pathologic factors. MATERIAL AND METHODS: We studied 69 patients with ovarian cancer allocated to two groups: A - ovarian cancer at diagnosis, B - relapse of ovarian cancer and active growth of the tumor. RESULTS: We found high levels of sCD30L in ovarian cancer patients. Levels at relapse (21.48 ng/ml) were significantly higher than at diagnosis (11.81 ng/ml). Poor response to first-line chemotherapy was accompanied by higher levels of sCD30L and by several other findings: resistance to platinum analogs was common, neoadjuvant chemotherapy was needed, relapse and death during two-year follow-up were frequent. CONCLUSIONS: Our present study might initially suggest that elevated concentration of sCD30L can be an important finding prognosticating a poor prognosis and is associated with platinum resistant and refractory cases of ovarian cancer. However, studies are needed on larger groups of patients.

[Pregnancy in a patient with resistant ovary syndrome--a case report]. / Ciaza u pacjentki z zespolem niewrazliwego pecherzyka.

Resistant ovary syndrome (ROS) and premature ovarian failure (POF) represent two forms of hypergonadotropic hypogonadism. Principal symptoms include primary or secondary amenorrhea (before the age of 40 years), low levels of estradiol and elevated FSH (above 40IU/ml) in serum. The main difference is the presence of follicles in ROS which is tantamount to the possibility of pregnancy. We present the case of pregnancy in a 31-year-old patient who was initially diagnosed with POF, which was the basis of the final diagnosis of ROS.

[Isolated fallopian tube torsion in a teenager--a case report]. / Izolowany skret jajowodu u nastolatki--opis przypadku.

Adnexal torsion belongs to the group of urgent cases in gynecology Early diagnosis and management can prevent the loss of an ovary and the Fallopian tube. The case of the 14.5-year-old girl was described by the authors. The symptoms were moderate and caused diagnostics problems. During clinical assessment current literature knowledge, differentiation and treatment of the adnexa were taken into account.

Leptin levels in serum depending on Body Mass Index in patients with endometrial hyperplasia and cancer.

UNLABELLED: Leptin levels in serum depending on Body Mass Index (BMI) in patients with endometrial hyperplasia and cancer. OBJECTIVES: Concentrations of leptin, a hormone secreted by white adipose tissue, correlate strongly with body mass. Leptin interacts with several other hormones, modifies the activities of some enzymes and proinflammatory cytokines, participates in hematopoiesis, thermogenesis, and angiogenesis, and is involved in the control of carbohydrate and lipid metabolism. This study was undertaken to determine whether serum concentrations of leptin in obese patients with endometrial hyperplasia and cancer deviate from values in patients with normal endometrium. STUDY DESIGN: We enrolled 86 obese postmenopausal women, including 40 with endometrial cancer and hyperplasia and 46 with normal endometrium. Depending on BMI, three subgroups were formed: I<30; II = 30-40; III > 40. Leptin concentrations were measured with immunoenzymatic test kits from IBL. Statistical comparison was done with the chi square (chi(2)) test and Statistica software package. RESULTS: Mean serum concentration of leptin in endometrial cancer and hyperplasia was 16737.1 pg/ml as opposed to 9048.7 pg/ml in patients without endometrial pathology (p<0.0001). Significantly, higher concentrations of leptin were noted in every BMI subgroup of patients with endometrial pathology in comparison to controls (p<0.005). CONCLUSIONS: Leptin appears to participate in proliferative processes of the endometrium. Obesity is an important risk factor in endometrial cancer.

Body composition, dehydroepiandrosterone sulfate and leptin concentrations in girls approaching menarche.

UNLABELLED: There is strong evidence that the initiation of adrenarche and gonadarche during puberty in girls depends on body mass in general and body fat in particular. The aim of this study was to analyze changes in body composition, i.e. body fat (BF), fat percentage (BF%), and lean tissue mass (LM) in girls during pre-menarcheal stages of development, including the earliest stage lacking clinical manifestations of changes in primary, secondary, and tertiary sexual characteristics. Puberty was assessed according to clinical and ultrasonographic staging of sex features developed by us. Concentrations of leptin and DHEA-S were compared and related to changes in body composition. SUBJECTS AND METHODS: The study was carried out on 65 healthy girls aged 8 years and older who were followed every 3 months over a 5-year period. Age, height, weight, and BMI were recorded. Body composition (BF, BF%, LM) was determined with an infrared method. Tertiary sexual features were staged according to Tanner. Vaginal secretion was assessed according to Peter et al. Transabdominal ultrasound of the uterus and ovaries was performed with the bladder unvoided. Groups were formed according to developmental stage: E0A = pre-estrogenization (no ultrasonographic or clinical evidence of estrogenization); E0B pre-estrogenization with 'luminosity' of mucus in cervical canal; E1 = onset of estrogenization; E = full estrogenization; M = menarche +/- 3 months. Concentrations of DHEA-S and leptin were determined by radioimmunoassay. RESULTS: BF in prepubertal girls averaged 16%. At menarche, BF was 23.9%. Body weight at menarche was 50.6 kg and the LM/BF ratio was 3.0. High leptin concentrations were found in E0B and M groups. Leptin concentrations were lowest during full estrogenization (E). Positive correlations of leptin with BF and LM were found in girls during developmental stages preceding menarche. Mean concentration of DHEA-S started at 1,091.6 microg/l during E0A stage, dropped significantly on passing to E0B (p <0.05), and increased by menarche. DHEA-S levels were found to correlate with BF, LM, and leptin in E0A, E0B, and E1 groups. Correlation coefficients were highest (DHEA-S/BF r = 0.61; DHEA-S/LM r = 0.54; DHEA-S/LEP r = 0.57) in the E0A group, i.e. about 5 months before the appearance of 'luminosity' of cervical mucus, considered to be the first ultrasonographic sign of puberty. Apparently, leptin stimulates somatic maturation during this stage of gonadarche which terminates with menarche. The action of DHEA-S is exerted during the early stages of female puberty.

Assessment of selected cytokines, proteins, and growth factors in the peritoneal fluid of patients with ovarian cancer and benign gynecological conditions.

OBJECTIVES: The ovarian tumor microenvironment, ie, the peritoneal fluid, is an intriguing research subject. The goal of this study was to assess the behavior of selected cytokines and growth factors within the peritoneal fluid in pathologies associated with ascites and to assess the relationship between the levels of these substances and select prognostic factors of ovarian cancer. METHODS: A total of 74 patients were enrolled in the study, including 36 patients with ovarian cancer and 38 patients with benign gynecological conditions. Peritoneal fluid collected during surgical procedures was used to assess the levels of interleukin (IL)-6, IL-8, stem cell factor (SCF), dickkopf-1, growth differentiation factor-15 (GDF-15), tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), osteoprotegerin (OPG), osteopontin, osteonectin, and human epididymis protein 4. The median levels of these factors were compared between the two groups, and the levels of selected factors were assessed in the ovarian cancer group with regard to the clinical stage of cancer, tumor differentiation, presence of peritoneal spread and positive peritoneal fluid cytology results. The diagnostic value of the analyzed proteins within the peritoneal fluid was also assessed. RESULTS: Differences were observed between the patients with ovarian cancer and the patients with benign gynecological conditions associated with ascites with regard to the levels of IL-6, IL-8, GDF-15, SCF, osteopontin, osteonectin, and OPG. There were no differences in dickkopf-1, TRAIL, and human epididymis protein 4 levels between the two study groups. Cancer stage affected only the mean SCF and OPG levels, with lower SCF values and higher OPG values in advanced cancers compared to less-advanced cancers. Tumor differentiation was associated with significantly lower SCF values in the group of poorly differentiated tumors. A significant reduction in SCF values and a significant increase in OPG and IL-6 values were also observed within cancer cell-positive peritoneal fluid. Peritoneal spread was associated with higher levels of TRAIL, osteonectin, and IL-6 in ovarian cancer patients. CONCLUSION: On the basis of the conducted studies, it appears that of the studied factors, GDF-15, SCF, and OPG deserve special attention in the context of future research on the tumor microenvironment. With regard to diagnostics, attention should be given primarily to GDF-15, IL-6, and osteonectin.

Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations.

The study aimed to determine whether hereditary ovarian cancers that are not caused by BRCA1/BRCA2 constitutional mutations are associated with a predisposition to cystadenoma. The study consisted of two parts. Part one concerned the incidence of ovarian cystadenoma in females from families with hereditary ovarian cancer unassociated with BRCA1 mutations. The study group included 62 female patients from 29 families, without any previously diagnosed malignancy, with no proven constitutional mutation of the BRCA1 gene. The first control group was composed of 62 female patients from 53 families, without any previously diagnosed malignancy, with an identified constitutional mutation of the BRCA1 gene. The second control group comprised 124 female patients for whom the only reason for the examination was a prophylactic check-up. All studied women were subjected to intravaginal ultra- sonographic investigations. In 8 patients with benign and/or borderline ovarian cystadenoma, a complete sequencing of coding fragments of the BRCA2 gene from the peripheral blood DNA was performed. Part two of this study concerned the incidence and pattern of malignant tumors in the families of female patients with ovarian cystadenoma. The final study group included 117 patients who had 726 I0 relatives (359 females and 367 males). We concluded that cystadenoma is likely to be a characteristic feature of the subgroup of families with hereditary ovarian cancers unassociated with BRCA1/BRCA2 constitutional mutations.

[Leptin levels during estrogenization phases in pubertal girls]. / Zmiany stezen leptyny u dziewczat w okresie pokwitania w róznych fazach estrogenizacji.

OBJECTIVE: We searched for associations between leptin levels, basic body composition, primary, secondary and tertiary sex features during pre-menarche without signs of estrogenization, estrogenic crisis and full estrogenization. MATERIAL AND METHODS: The study group consisted of 45 healthy girls over the age of 8 years. Height, body mass, BMI, basic body composition and plasma concentration of leptin were determined every three months. In addition, ultrasound of the ovaries, uterus and breasts was done. RESULTS: The highest levels of leptin were observed in girls without signs of estrogenization. The ratio of leptin/fat (ng/ml/kg) was higher in pubertal girls, particularly those without signs of estrogenization, than in adult women. CONCLUSIONS: The estrogenic crisis was accompanied by a reduction in body mass, followed by the pubertal acceleration of growth and increase in fatty, lean and total body mass. The correspondence of tertiary sex features with pre-menarche, estrogenic crisis and full estrogenization phases did not exceed 55%. Enlargement of the uterine body was followed by a dynamic growth of ovaries. Individual variation in ovarian size was significant. Changes in leptin levels occurring during estrogenization point to the importance of this protein in metabolic signaling.

[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.

[Parovarian cysts--not always benign]. / Torbiele przyjajnikowe--nie zawsze lagodne.

OBJECTIVES: The purpose of this study was to determinate the frequency, clinical aspects and management of epithelial parovarian neoplasms among patients hospitalised in our department. MATERIALS AND METHODS: This work has a retrospective character. The research material composed of patients treated in our clinic in the years 1992-2001 because of adnexal mass. In clinical analysis of 13 cases with epithelial parovarian neoplasms we took account of age, symptoms, ultrasound investigations, CA 125 levels, family history, operative treatment, histopathological examinations and follow up. RESULTS: Among 1110 patients operated for of adnexal mass 19.21% constituted parovarian cysts, and 2.6% (13 cases) of them were epithelial neoplasms (11 benign cystadenomas and 2 borderline malignancy neoplasms in FIGO I). The mean age of patient was 42.1. The clinical presentation was lower abdominal pain. CA 125 had the normal range in all patients. In ultrasound investigation parovarian cysts was suspected only in 2 cases when both normal ovaries were apparent. All patients were operated and extension of surgical procedures depended firs of all on age. Two patients with borderline tumors were operated in 1998 and have lived ever since without signs of disease. CONCLUSION: Parovarian cysts are not always benign and broad ligament region may be the point of issue for neoplasms of different histopathological types.

[Congenital agenesis of vagina and cervix]. / Wrodzony brak pochwy i szyjki macicy.

A case of vaginal and cervical agenesis was presented. The mode of therapeutic procedure consisting of several stages was shown. Menstruation to abdominal cavity was stopped, using pharmacological agent. At the first step diagnostic laparoscopy was performed and artificial vagina was formed. During the second operation a junction of uterus with vagina was carried out. At present, the patient menstruates through vagina. The normal sexual function was achieved.

[Biophysical parameters of early puberty in girls]. / Profil biofizyczny dziewczat oraz ocena pierwszo-, drugo-i trzeciorzedowych cech plciowych we wczesnej fazie dojrzewania.

OBJECTIVE: The appearance of breast development in girls characterizes an early period of puberty. Ultrasonographic examinations of the uterus and ovaries make possible the estimation of first pubertal changes in sexual organs. DESIGN: The aim of this work was to study the clinical and ultrasonographical features of early puberty in girls. MATERIAL AND METHODS: 33 healthy girls were observed quarterly in the course of prepuberty. Body mass, height, body mass index (BMI), quantity of adipose tissue were investigated. Stage of puberty was established according to Tanner. The uterus and ovaries were studied ultrasonographically, and the volume of the uterine body, length of the cervix and ovarian volume and size of ovarian follicles were scrutinised. RESULTS: Statistical differences were observed in weight, height, quantity of adipose tissue and the volume of body and that of the uterus, in length of the cervix between prepuberty and early puberty periods. Luminastity of mucus in the cervical canal in half of girls in the breast stage M1 was obtained. CONCLUSION: Ultrasonographic investigations of internal sexual organs with estimation of clinical sexual features are helpful in examination of early stage of puberty.

[Granulosa cell tumor in different periods of women's life]. / Ziarniszczak w róznych okresach zycia kobiety.

UNLABELLED: Ovarian granulosa cell tumor is uncommon malignancies. By virtue of histopathological examination we distinguish two subtype of GCT: adult type granulosa cell tumor typically in older women and juvenile granulosa cell tumor recognized primarily in children and young adults. GCTs behave unpredictably. Depending on histological type patients suffer recurrences in different time after treatment, even many years from diagnosis. OBJECTIVES: The aim of our study is clinical analysis of patients with AGCT and JGCT, especially the problem of choice of treatment, time to occurring recurrences and new possibility in long term follow up. MATERIAL AND METHODS: We analyzed 22 patients treated in Department of Gynecological Surgery and Oncology of Adults and Adolescent Pomeranian Academy of Medicine and then observed in our outpatient clinic. RESULTS: Among analyzed 22 patients 18 had adult type of granulosa cell tumor, mean age of these women was 47 years (32-72). Juvenile type of granulosa cell tumor were recognized in 4 patients and they were from 4 to 7 years old. All young girls were underwent sparing surgery, one of them was treated with radiotherapy. In histopathological examination of 4 years old girl atypia and a lot of mitosis was observed and she was treated with chemotherapy. Unfortunately after 18 months from diagnosis she died due to very dynamic recurrence. Remained 3 girls live without evidence of disease and the longest time of follow up is 36 years. 16 women with AGCT were underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy and omentectomy, 2 were performed conservative surgery because they wish to preserve their fertility. 16 patients were treated with radiotherapy as an adjuvant treatment, two additionally with GnRH analogues. Recurrences in patients with AGCT were recognized in 5 cases. Mean time to recurrence from diagnosis were 11.7 years. In two patients it happened after 21 and 22 years. Despite of aggressive chemotherapy four of these patients died during one year. Remained 13 women with adult granulosa cell tumours live without evidence of disease and the longest time of observation is 9 years. In histopathological examination of all patients who died were describe cellular atypia and high mitotic rates. During long time follow up our patients were performed second-look laparoscopies, tested of estradiol levels and 5 of them also inhibin B levels which always correlated with actual condition. CONCLUSION: Granulosa cell tumor is ovarian neoplasm of different behaviour. Patients with this diagnosis should be monitoring for many years. Inhibin is valuable examination in long term follow up.

[Effectiveness of combined treatment in patient with advanced ovarian carcinoma]. / Efekty skojarzonego leczenia zaawansowanego raka jajnika.

OBJECTIVE: The objectives of this study was to evaluate chemotherapy, GnRH analogues and radiotherapy as adjuvant treatment in advanced epithelial ovarian carcinoma. MATERIALS AND METHODS: It was a retrospective analysis. 69 patients with stage III and IV epithelial ovarian carcinoma after maximal debulking surgery received adjuvant chemotherapy with cyclophosphamide and cisplatin or carboplatin (6-9 course). Additionally some of them were treated with radiotherapy or/and GnRH agonists. In relation to treatment patients were divided into 4 groups: I--received chemotherapy + GnRH agonist + radiotherapy, II--chemotherapy + GnRH agonist, III--chemotherapy + radiotherapy and IV--chemotherapy. Statistical analysis was based on nonparametric U-Mann-Whitney test. Survival analysis performed with Kaplan-Meyer method. RESULTS: We found statistical differences in overall survival, 5-years survival and overall complete response rate between the group treated with only chemotherapy and groups the also received radiotherapy or/and GnRH analogues. CONCLUSION: Combination treatment in advanced epithelial ovarian cancer seems to be a reasonable way of therapeutic management. Radiotherapy and GnRH agonists with chemotherapy are effective consolidation therapy for stage III and IV ovarian cancer.

[Germinal cell tumors in young and adolescent girls]. / Nowotwory germinalne u dziewczat i mlodych kobiet.

OBJECTIVE: Germ cell tumours are the most common ovarian tumours in childhood and adolescence. This diverse group of tumours derives from germ cells. DESIGN: The aim of this work is presentation of germ cell tumours in the material from our clinic with characteristic clinical features, the scope of operation and effects of many years of observation. MATERIALS AND METHODS: We treated 109 girls with germ cell tumours of the ovary: 13 had malignant tumours: there were 7 patients with dysgerminomas, 2 with endodermal sinus tumour of the ovary, 3 with immature teratomas, 1 with carcinoma embryonale. Gonadoblastomas was diagnosed 4 patients and mature teratomas in 92 patients. RESULTS: 11 patient had gonadal dysgenesia with abnormal karyotype. These girls had no follicle apparatus in gonads and had elevated levels of gonadotropins. Gonadoblastoma is almost always found in patients with gonadal dysgenesis. Gonadoblastoma often produces estradiol or testosterone. There can be problems with diagnosis of the syndrome, because developmental features imitate the onset of normal puberty. Most patients with dysgerminoma have stage I of disease and surgery is sufficient. It must be suggested that patients of stage I who wish to preserve childbearing function may be treated with unilateral salpingoophorectomy and adjuvant chemotherapy. Monitoring of the treatment is connected with measurement of biochemical markers. Some of these markers are useful for monitoring of response to therapy. When levels of markers are low second look laparoscopic operation should be performed. Cytological smears and biopsy specimens from the remaining ovary, peritoneum and subdiaphragmatic area should be obtained laparoscopically. CONCLUSIONS: The sift ultrasonographic investigations can be helpful in the early diagnosis of germ cell tumours of the ovary in girls. Absence of follicle apparatus in the gonads requires determination of levels of gonadotropins and karyotype. Fertility sparing operative treatment is preferred when karyotype is normal.

Clinical characteristics of hereditary ovarian cancer (HOC) in Poland.

BACKGROUND: Hereditary ovarian cancer (HOC), as any genetic disease, may display clinical characteristics that depends on population. AIM OF THE STUDY: The aim of the study was to describe clinical characteristics of HOC in Polish population basing on analysis of the following features: age at onset, clinical staging, morphological grading and prevalence of serous adenocarcinoma. MATERIAL AND METHOD: The cases were selected basing on analysis of pedigree/clinical features and molecular studies of founder mutations of BRCA1 gene in Poland. RESULTS: The patient's age at diagnosis was ca 49-52 and was similar in all groups. The exception was the subgroup without mutations in group II (breast and ovarian cancers found in families) with mean age at diagnosis ca 46 years (n = 9). In patients with HOC without mutation of BRCA1 gene, lower FIGO stage and lower morphological grade were detected more frequently. The majority of HOC showed histopathological pattern of serous adenocarcinoma. CONCLUSIONS: Clinical features of HOC in Poland and in other countries are similar. 2. Introduction of DNA tests to the clinical and pedigree diagnostic criteria allows detection of subgroups of HOC with different clinical features.

[Characteristics of selected features of hereditary ovarian cancer in carriers of constitutional BRCA1 gene mutation]. / Charakterystyka wybranych cech klinicznych dziedzicznych raków jajnika u nosicielek mutacji konstytucyjnej genu BRCA1.

BACKGROUND: Hereditary ovarian cancer in BRCA1 constitutional mutation carriers shows a characteristic clinical pattern. AIM OF THE STUDY: Evaluation of the type of mutation, age of onset, clinical stage (FIGO) and morphological grade (G) of ovarian cancers in BRCA1 mutation carriers. MATERIAL AND METHOD: We analyzed 16 cases of hereditary ovarian cancers from 14 families. The cases were included into studied group as a result of evaluation of pedigree criteria and molecular-genetic analyses detecting constitutional mutation--5382insC, C61G, 4153delA--founder mutations dominating the Polish population. The following features were compared between studied and control group: C1--age of onset of ovarian cancer in 5-year intervals (below 35, 40, 45, 50 and 55 years of age); C2--clinical staging (FIGO) I/II or III/IV: C3--grading (G1-G3). The data were analyzed statistically. RESULTS: Age of onset < 50, OR--2.52 is highly characteristic for BRCA1 mutation carries. Similarly the staging III/IV is more often observed in studied group--OR 2.71. The most characteristic of studied group is high morphological grading--OR 12.38. CONCLUSIONS: 1. Features of HOC in studied material and in other populations are similar 2. High morphological grading is the most characteristic for HOC in BRCA1 carriers.

HE4 tumor marker concentration in neoplastic peritoneal effusion and in peritoneal fluid associated with benign gynecological diseases.

BACKGROUND: The aim of our study was to evaluate the behaviour of the human epididymis protein 4 (HE4) in the peritoneal fluid encountered in various female genital diseases. METHODS: We enrolled 139 patients, 40 with ovarian cancer (group I), 82 with benign diseases (group II), and 17 with other malignant neoplasms (group III). The HE4 tumor marker concentrations were determined in serum, in the peritoneal effusion and ovarian cyst/ tumor fluids, CA125 in the serum only. We compared the groups, examined correlations and determined corresponding ROC curves. We evaluated the relationship between the HE4 marker concentration in the peritoneal effusion in the group I, depending on the selected prognostic parameters. RESULTS: The HE4 median value between the study groups did not differ statistically significantly and were as follows: in group I 3322 pmol/L, in the group II 2150 pmol/L and in the group III 627 pmol/L (p = 0.206376 for the groups I and II, p = 0.05929 for the groups I and III and p = 0.0797 for the groups II and III. In group I there were no differences found in the HE4 concentrations in the peritoneal fluid, depending on the stage, grade, the presence of neoplastic cells and the peritoneal dissemination. CONCLUSIONS: The HE4 marker concentrations in the peritoneal fluid are highly irrespective of the pathology observed in the female sexual organ. Therefore, it seems that its determinations in the peritoneal fluid are completely useless in terms of diagnostics. More research is needed on the role of the HE4 marker, especially the place of its formation and possible use in the targeted therapy.