Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients.

OBJECTIVE: The purpose of this study was to describe the incidence of the three Ashkenazi Jewish founder genetic BRCA 1 and 2 mutations among an unselected, consecutive group of Ashkenazi Jewish ovarian cancer patients. MATERIALS AND METHODS: From 7/30/96 to 4/12/99, 92 Ashkenazi Jewish patients with histologically confirmed epithelial ovarian cancer had surgery. All of these patients had DNA extracted from 5-microm sections of their paraffin-embedded surgical specimen tissue blocks using the Qiagen QIAamp tissue extraction kit. A multiplex (triplex) polymerase chain reaction was performed to amplify fragments for the 185delAG, 5382insC, and 6174delT mutations. The products were hybridized with normal and mutant probes for each of the three mutations. All clinical data were collected retrospectively and statistical significance was evaluated using the chi(2) test or a two-tailed Fisher's exact test, depending on the sample size. RESULTS: There were 23 patients positive for one of the three founder BRCA mutations. Fourteen patients were positive for the 185delAG mutation, 2 patients were positive for the 5382insC mutation, and 7 patients were positive for the 6174 delT mutation (61, 9, and 30%, respectively). This represented a 25% incidence (95% CI: 16-34%) of one of the three founder BRCA mutations among our 92 Ashkenazi Jewish ovarian cancer patients. None of the patients was positive for more than one mutation. There was no statistically significant difference in parity, histology, grade, or stage between the BRCA founder mutation positive and negative patients. The difference between the percentage of mutation carriers among patients with one affected first-degree relative (13/22 or 59%) compared to those without at least one affected first-degree relative (10/70 or 14%) was highly significant (P = 0.001). CONCLUSIONS: Ashkenazi Jewish ovarian cancer patients represent a group with a high likelihood of being carriers of BRCA 1 and 2 genetic mutations, regardless of family history. As a result, all ovarian cancer patients who are of Ashkenazi Jewish descent should be counseled regarding BRCA 1 and 2 genetic screening, as well as the potential implications of these results for the patient as well as her relatives in terms of prognosis, screening, chemoprevention, and consideration of prophylactic surgical procedures.

Laparoscopic lymphadenectomy for gynecologic malignancies.

OBJECTIVE: The purpose of our study was to detail our 5-year experience with laparoscopic lymphadenectomy for gynecologic malignancies. METHODS: From 11/5/92 to 3/9/98, we performed laparoscopic lymphadenectomies on 94 patients with various gynecologic malignancies. Pelvic, paraaortic, and combinations of both pelvic and paraaortic lymphadenectomies were performed depending on the primary site of disease and indication for lymph node dissection. Data were prospectively collected on all patients. RESULTS: From 11/5/92 to 3/9/98 we performed 94 laparoscopic lymphadenectomies for gynecologic malignancies. The distribution included 64 patients with cervical cancer, 14 with ovarian cancer, 12 with endometrial cancer, 2 with fallopian tube cancer, 1 with a uterine malignant mixed mesodermal tumor, and 1 with a metastatic neuroendocrine tumor. Fifty-five patients had only pelvic lymph node dissections, 9 patients had paraaortic dissections only, and 30 had both pelvic and paraaortic dissections performed. Among 30 patients having laparoscopic lymphadenectomy only, the mean hospital stay was 3.6 days. Included in this group were 19 patients who received postoperative neoadjuvant chemotherapy for cervical cancer as inpatients prior to ambulatory radiation therapy. The mean length of stay for this group was 4.6 days versus 1.7 days for the 11 patients who did not receive postoperative chemotherapy (P = 0.0025). The mean number of pelvic nodes was 11.9 (range 0-57), with a mean of 4. 5 between 11/5/92 and 12/31/95 and a mean of 19.1 from 1/1/96 to 3/9/98. The mean number of paraaortic nodes obtained was 3.7 (range 0-14), with a mean of 3.4 from 11/5/92 to 12/31/95 and a mean of 4.1 from 1/1/96 to 3/9/98. A total of 3 patients required conversions to laparotomy. One was for a vascular injury to the vena cava, 1 for a large tumor extending to both sidewalls, and the third for removal of densely matted lymph nodes. CONCLUSIONS: Laparoscopic lymphadenectomy is a technically feasible procedure for patients with gynecologic malignancies requiring lymph node dissections, with an acceptable safety profile and nodal yield. The number of nodes obtained increased in direct proportion to operator experience. In addition, patients may benefit from a decrease in hospital stay compared to conventional lymphadenectomy via laparotomy.

Pyomyoma after uterine instrumentation. A case report.

BACKGROUND: Since 1945, only 10 cases of pyomyoma have been described in the literature. Four were related to pregnancy but none to elective abortion or uterine instrumentation. CASE: A 32-year-old woman was admitted to the hospital with a history of lower abdominal pain, nausea, vomiting and low grade fever with a past medical history significant for uterine leiomyomata and a second-trimester elective abortion 10 weeks prior to admission. Pelvic sonography demonstrated an enlarged uterus with a mass consisting of cystic and solid components. Uterine curettage revealed blood clots and scanty endometrial tissue. After no improvement following antibiotic therapy and nondiagnostic uterine curettage, an exploratory laparotomy was performed. It revealed peritonitis with multiple pyomyomas draining purulent material. CONCLUSION: Although rarely reported, pyomyoma should be considered in the setting of a recent history of uterine instrumentation, signs of infection and a uterine myoma.

Laparoscopic surgery in patients with a ventriculoperitoneal shunt. A case report.

BACKGROUND: Ventriculoperitoneal shunts have afforded many patients the opportunity to expect a normal lifespan. Since laparotomy is more likely to be associated with adhesion formation, potentially reducing the functional capacity of ventriculoperitoneal shunts, laparoscopy may be a preferable surgical alternative. CASE: A 64-year-old woman presented with a pelvic mass requiring surgical evaluation to rule out ovarian cancer. She had a ventriculoperitoneal shunt. Diagnostic laparoscopy was performed without complication. However, due to the significant adhesions from previous surgery, the mass could not be safely evaluated, and the procedure was completed by laparotomy. CONCLUSION: This is the first report of laparoscopy for a pelvic mass in an adult with a ventriculoperitoneal shunt. Laparoscopy is preferable to laparotomy for the replacement or repair of ventriculoperitoneal shunts. Also, laparoscopy should be considered for other problems requiring surgical intervention.

Cutaneous metastases from squamous cell carcinoma of the vulva. A case report and review of the literature.

Cancer of the vulva, the fourth most common malignancy of the female genital tract, accounts for approximately 4% of all gynecologic malignancies. Only one prior case of a cutaneous metastasis from a vulvar cancer has been previously reported and involved a FIGO Stage III (T2N1M0) lesion. We report a patient with Stage II (T2N0M0) vulvar carcinoma who developed cutaneous metastases. This case demonstrates the ability of vulvar carcinoma to disseminate hematogenously, despite complete surgical resection with negative skin margins, and negative lymph nodes. In addition, this case emphasizes the importance of careful and close follow-up of all patients with vulvar carcinoma.