BackgroundPALB2 protein was recently identified as a partner of BRCA1 and BRCA2 which determines their proper function in DNA repair.MethodsInitially, the entire coding sequence of the PALB2 gene with exon/intron boundaries was evaluated by the PCR-SSCP and direct sequencing methods on 70 ovarian carcinomas. Sequence variants of interest were further studied on enlarged groups of ovarian carcinomas (total 339 non-consecutive ovarian carcinomas), blood samples from 334 consecutive sporadic and 648 consecutive familial breast cancer patients, and 1310 healthy controls from central Poland.ResultsTen types of sequence variants were detected, and among them four novel polymorphisms: c.2996+58T>C in intron 9; c.505C>A (p.L169I), c.618T>G (p.L206L), both in exon 4; and c.2135C>T (A712V) in exon 5 of the PALB2 gene. Another two polymorphisms, c.212-58A>C and c.2014G>C (E672Q) were always detected together, both in cancer (7.5% of patients) and control samples (4.9% of controls, p = 0.2). A novel germline truncating mutation, c.509_510delGA (p.R170fs) was found in exon 4: in 2 of 339 (0.6%) unrelated ovarian cancer patients, in 4 of 648 (0.6%) unrelated familial breast cancer patients, and in 1 of 1310 controls (0.08%, p = 0.1, p = 0.044, respectively). One ovarian cancer patient with the PALB2 mutation had also a germline nonsense mutation of the BRCA2 gene.ConclusionsThe c.509_510delGA is a novel PALB2 mutation that increases the risk of familial breast cancer. Occurrence of the same PALB2 alteration in seven unrelated women suggests that c.509_510delGA (p.R170fs) is a recurrent mutation for Polish population.
The 3-year disease-free survival was similar in both groups. Total laparoscopic radical hysterectomy may be an option in early cervical cancer; however, the intraperitoneal spread in 2 patients compels a search for possible risk factors in patients managed by laparoscopy.
BackgroundThe surgical treatment of patients with advanced-stage ovarian cancer is based on maximal cytoreduction with widening the debulking on the extra-ovarian tissues and infiltrated organs. The purpose of the study was to assess the outcome after optimal cytoreduction with partial bowel resection and to find the risk factors of relapse. Another goal was the quantitative and qualitative assessment of intra- and postoperative complications in the studied group.MethodsThe analysis of debulking procedures with intestinal resection and postoperative period in 33 ovarian cancer patients, The International Federation of Gynecology and Obstetrics (FIGO) stages III and IV, was performed.ResultsThe optimal cytoreduction defined as less than 1.0 cm residual disease was achieved in all patients including the following: 26 patients (78.8 %) with no macroscopic residual disease, 4 patients (12.1 %) with the largest residual tumor less than 0.5, and 3 patients (9.1 %) with 0.5 cm to less than 1.0 cm residual disease. The rectosigmoid resection was the most common surgical procedure (n = 27). The risk of relapse was significantly higher in subjects who had the macroscopic residual tumor left during the primary operation (57.1 vs. 11.5 %, P = 0.035). A primary bowel tumor size was another predictor of relapse. The maximum tumor diameter was significantly larger (14.9 ± 6.7 cm vs. 10.3 ± 4.7 cm, P = 0.047) in patients who developed the relapse.ConclusionsAs presented in the article, our outcomes and other authors’ observations indicate that debulking surgery with bowel resection in patients with advanced ovarian cancer brings good results. Complications connected with bowel surgery are to be accepted. The interesting thing is that a primary bowel tumor size was a predictor of relapse.
The objective of the current study was to compare the results of surgical treatment in endometrial cancer with the use of laparoscopy and the traditional approach of laparotomy. Our goal was to evaluate and compare the morbidity, recurrence rate, and disease-free survival in both groups. This article is a retrospective study. A chart review of 45 patients treated by laparoscopy between 1994 and 2002 and 136 patients treated by laparotomy between 2001 and 2002 was performed. Disease-free survival in both groups was evaluated with the Kaplan-Meier method and was compared using the log-rank test. The rate of recidive was 6% in the laparoscopy group and 13% in the laparotomy group. There was no statistically significant difference in disease-free survival and recidive rate between the laparoscopy and laparotomy groups. Laparoscopic management in endometrial cancer does not worsen the prognosis, and the disease-free survival is similar to that resulting from the traditional approach. The benefits of minimal invasive surgery are quicker postoperative recovery, shorter hospital stay, and no wound complications.
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