The analysis of the therapeutic decisions in a patient with gigantic ovarian leiomyoma.

Complicated or unusual cases appear in clinical practice. It's important to know how to react when we face clinical difficulty. The more unusual the case, the longer or more demanding the decision-making process is.

Variant Identification in BARD1, PRDM9, RCC1, and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools.

Unlabelled: Several ovarian cancer susceptibility genes have been discovered, but more are likely to exist. In this study, we aimed to analyze knowledge-based selected genes, that is, BARD1, PRDM9, RCC1, and RECQL, in which pathogenic germline variants have been reported in patients with breast and/or ovarian cancer. As deep sequencing of DNA samples remains costly, targeted next-generation sequencing of DNA pools was utilized to screen the exons of BARD1, PRDM9, RCC1, and RECQL in approximately 400 Polish ovarian cancer cases.

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Constitutional loss-of-function pathogenic variants in the tumor suppressor genes and are widely associated with an elevated risk of ovarian cancer (OC). As only ~15% of OC individuals carry the pathogenic variants, the identification of other potential OC-susceptibility genes is of great clinical importance. Here, we established the prevalence and spectrum of the germline pathogenic variants in the and 23 other cancer-related genes in a large Polish population of 333 unselected OC cases.

Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms.

BARD1 is the main binding partner of BRCA1 and is required for its stability and tumor-suppressor functions. In breast cancer and other epithelial cell carcinomas, alternatively spliced isoforms of BARD1 are highly upregulated and correlated with poor outcome. Recent data indicate that germline mutations of BARD1 may predispose to breast and/or ovarian cancer.

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

Only approximately 50% of all familial breast cancers can be explained by known genetic factors, including mutations in BRCA1 and BRCA2. One of the most extensively studied candidates for breast and/or ovarian cancer susceptibility is BARD1. Although it was suggested that large mutations may contribute substantially to the deleterious variants of BARD1, no systematic study of the large mutations in BARD1 has been performed.

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.

The importance of proper mutational analysis of BRCA1/2 in individuals at risk for hereditary breast and ovarian cancer syndrome is widely accepted. Standard genetic screening includes targeted analysis of recurrent, population-specific mutations. The purpose of the study was to establish the frequency of germline BRCA1/2 mutations in a group of 134 unrelated patients with primary ovarian cancer.

Loss of heterozygosity at BRCA1/2 loci in hereditary and sporadic ovarian cancers.

Loss of heterozygosity at BRCA1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q.

High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland.

Background: We estimated the prevalence of BRCA1/2 germline mutations in consecutive ovarian cancers and correlated the mutation status with clinicopathological features.

Methods: 151 consecutive primary ovarian cancer patients were screened for BRCA1/2 germline mutations.

Results: We identified BRCA1/2 germline mutations in 21 (13.

[Prognostic significance of Sphase fraction in ovarian cancer patients].

Introduction: The established of prognostics factors in ovarian cancer patients can be used to predict the outcome of the disease, and gives possibilities to identified the group of patients who must be treated more aggressive. Some authors believe that (SPF) is prognostic factor in ovarian cancer.

Aim Of The Study: Evaluation of prognostic significance of S phase fraction in ovarian cancer patients determined by flow cytometric (FC) analysis.

[DNA ploidy and results of first line chemotherapy in ovarian cancer patients].

Aim Of The Study: The prognostic significance of DNA ploidy in ovarian cancer patients determined by flow cytometric analysis, in correlation with effectiveness of first line chemotherapy.

Material And Methods: DNA ploidy by FC was investigated in group of 102 ovarian cancer patients from fresh frozen samples (4 patients was excluded from the study).

Results: Positive answer for first line treatment we notified in 64(62,75%) cases, lack of answer 34 (37,25%) patients.

HER2 Amplification Has no Prognostic Value in Sporadic and Hereditary Ovarian Tumours.

Whereas HER2 amplification is a well-known phenomenon in breast tumours, its frequency and clinical importance in ovarian cancer have not been established. The aim of the study was to compare the frequency of HER2 amplification in hereditary (BRCA-positive) and sporadic (BRCA-negative) ovarian tumours and to estimate the association of this gene alteration on clinical outcome in ovarian cancer patients. We analysed HER2 amplification in 53 ovarian tumours: 20 from mutation carriers (18 in BRCA1 and 2 in BRCA2 gene) and 33 from non-carriers.

Prognostic impact of BRCA1 pathogenic and BRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma.

Background: The clinical relevance of BRCA1/2 alterations in ovarian carcinoma patients is debatable. Our aim was to determine factors influencing the risk of recurrence and death in ovarian carcinoma patients with BRCA pathogenic and unclassified variant mutations.

Methods: A consecutive series of 205 women with primary ovarian carcinoma were screened for mutations in BRCA1 and BRCA2 genes using a conformational sensitive gel electrophoresis and direct sequencing.

[Comparative analysis of patients with multiple pregnancy hospitalized at the Gynecology and Obstetrics Department of the Medical University of Gdansk in 1981-1990 and 1991-2000].

Objective: The purpose of this study was to present twinning rates and to compare patients with multiple pregnancy delivered at Gynaecology and Obstetrics Department of Medical University of Gdansk in 1981-1990 and 1991-2000.

Material And Methods: A retrospective study of 523 twin births was performed. The analysis concerned: maternal age, place of living, education, parity, using of assisted reproductive techniques.

[Recurrence of endometrial cancer after surgical treatment].

Objectives: The purpose of the research was to analyze the frequency and location of endometrial cancer recurrence in a group of women who underwent surgery due to neoplasm and frequency of relaparotomy because of the neoplasm recurrence.

Materials And Methods: 292 women underwent operation in Dept. of Gynecology at Medical University of Gdansk due to endometrial cancer in clinical stage IA-IV by FIGO 1988 in the years of 1981-1996.

Prevalence and clinical correlations of BRCA1/BRCA2 unclassified variant carriers among unselected primary ovarian cancer cases - preliminary report.

The objective of this study was to determine the prevalence of BRCA1 and BRCA2 gene mutations in unselected ovarian cancer patients, and to analyse clinical and pathological features of ovarian cancer unclassified variant mutation carriers in comparison with BRCA1 pathogenic mutation carriers and sporadic cases. A consecutive sample of 205 women with primary ovarian cancer was screened for mutations in the BRCA1 and BRCA2 genes using a direct test for small deletions and insertions, conformational sensitive gel electrophoresis and direct sequencing. Data regarding medical and familial history were collected using questionnaires.

[Stent implantation for aortic recoarctation--a case report].

A case of a 17-year-old boy with a history of aortic coarctation, treated with surgery at the age of 10 years, is presented. Due to recoarctation, the patient underwent successful CP stent implantation.

[Cancer antigen CA 125 in ovarian cancer].

Aim: To estimate the diagnostic and prognostic value, pathological and clinical correlation of cancer antigen 125 (CA125) in ovarian cancer (OC). Retrospective analysis was done of 350 patients who were operated for OC in years 1990-2001 in Gynecology Clinic MU of Gdansk. We analyzed those before primary operation (PO) and second look laparotomy (SLL).

[Hereditary ovarian cancer as a separate clinical entity].

Family history of ovarian cancer has been regarded as the most important risk factor in developing this type of tumor. Recent identification of cloning of specific tumor suppressor genes responsible for hereditary ovarian cancer syndromes, resulted in the surge of enthusiasm and optimism regarding the practical application of genetic information. Many investigators believe that natural history of hereditary ovarian may significantly differ from sporadic cases.

P21WAF1, P27KIP1, TP53 and C-MYC analysis in 204 ovarian carcinomas treated with platinum-based regimens.

Background: The prognostic and predictive value of cell cycle regulatory proteins in ovarian cancer has not been established. We evaluated the clinical and biological significance of P21(WAF1), P27(KIP1), C-MYC, TP53 and Ki67 expressions in ovarian cancer patients.

Materials And Methods: Immunohistochemical analysis was performed on 204 ovarian carcinomas of International Federation of Gynecology and Obstetrics (FIGO) stage IIB to IV treated with platinum-based chemotherapy.

[Evaluation of surgical complications connected with intraperitoneal chemotherapy in ovarian cancer].

Objectives: From a theoretical viewpoint, the use of intraperitoneal therapy (i.p.) in patients with ovarian cancer (a malignancy, which remains mainly confined to the peritoneal cavity) is logical.

[Gastrointestinal surgery in patients with ovarian cancer].

Objectives: The objectives were to assess indications as well as outcome and morbidity of gastrointestinal surgery in patients with ovarian cancer.

Methods: The study included 74 patients with primary ovarian cancer who had debulking surgery (bowel surgery) from 1987 to 2001.

Results: In our group postoperative residual tumor was--R0 in 15 cases (20.

[New techniques with biodegradable Valtrac-Bar rings for intestinal anastomosis management of advanced cancer].

Aim: In the study we tried to demonstrate usefulness of the biofragmentable Valtrac-Bar rings in treatment of intestinal obstruction caused by advanced ovarian carcinoma.

Materials And Methods: Intestinal anastomosis with biofragmentable Valtrac-Bar rings were performed in 26 patients with advanced ovarian cancer with symptoms of intestinal obstruction. In nine patients manifestation of acute or subacute intestinal obstruction symptoms, cachexia and ascites necessitated the use of Valtrac rings during primary surgical operation.

[Evaluation of the effectiveness of second-line intraperitoneal chemotherapy for patients with ovarian cancer].

Objectives: From a theoretical viewpoint, intraperitoneal therapy in patients with ovarian cancer, a malignancy, which remains mainly confined to the peritoneal cavity is logical. Intraperitoneal catheters have moved to the forefront as a delivery system in cancer treatment.

Design: The authors sought to evaluate effects of intraperitoneal chemotherapy (IPC) as a second line therapy for ovarian cancer patients.

Evaluation of clinical significance of TP53, BCL-2, BAX and MEK1 expression in 229 ovarian carcinomas treated with platinum-based regimen.

In cell line studies, BCL-2, BAX, as well as novel MEK1 protein levels have strong influence on ovarian cancer response to cisplatin-based chemotherapy. However, such associations have not been demonstrated clinically. We evaluated prognostic/predictive significance of these proteins with regard to TP53 status.