Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube / 부인종양

OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene panel. METHODS: Twenty-six patients diagnosed with either PC or FTC between January 2013 and December 2016 were recruited consecutively. Germline DNA was sequenced using a 6-gene next generation sequencing (NGS) panel following genetic counseling. Surgico-medical information was obtained from hospital records. Genetic variations were detected using the panel and were cross-validated by Sanger direct sequencing. RESULTS: Germline BRCA1/2 mutations were identified in 6 patients (23.1%). Four were detected in patients with PC and 2 were in FTC patients. No mutations were detected in TP53, PTEN, CDH1, or PALB2. We identified 11 variant of uncertain significance (VUS) in 9 patients; 2 in BRCA1, 3 in BRCA2, 2 in TP53, and 4 in CDH1. We also detected a CDH1 c.2164+16->A VUS in 3 patients. CONCLUSION: The prevalence of germline BRCA1/2 mutations in patients with PC or FTC is comparable to that of BRCA1/2 mutations in epithelial ovarian cancer patients.

A case of primary tubal cancer evaluated with laparoscopy / 대한산부인과학회지

Malignant neoplasm of the fallopian tube is the rarest of the gynecologic cancers. Vaginal bleeding, vaginal discharge, and pelvic pain are the most common symptoms. Because of these non-specific symptoms, the diagnosis of this least common neoplasm is rarely made before laparotomy. The tumor is typically unilateral and has histologic subtypes, endometrioid and serous adenocarcinoma being the most common subtypes. Surgery, clearly the mainstay of treatment, is also the first approach to diagnosis. The procedure of choice is total abdominal hysterectomy with bilateral salpingo-oopho-rectomy. We had experienced one patient with primary tubal cancer, successfully evaluated with laparoscopy. And then we intend to report the case of the above patient and have a brief discussion about that.

Clinicopathologic Study on the Primary Malignant Tumors of The Fallopian Tube / 대한산부인과학회잡지

Objective The aim of this study was to evaluate the clinicopathologic findings of eight patients with primary cancer of fallopian tube diagnosed and treated in the department of Obstetrics and Gynecology, University of Ulsan, Asan Medical Center for nine years. Methods Demographic characteristics, symptoms, signs, stage, tumor grade, mode of therapy and survival of patients were reviewed retrospectively. Results The patients with primary cancer of fallopian tube constituted 0.4% of all gynecologic malignancies encountered during this period. The age of patients ranged 42 to 70 years(mean+/- S.D.; 53.9+/-9.9) and half of patients were postmenopausal and two patients were nulliparous. Patients were treated by simple or radical hysterectomy and bilateral salpingoophorectomy with or without omentectomy and five patients received postoperative chemotherapy. The FIGO surgical stages of the patients were I(4 cases), II(2 cases), III(1 case) and IV(1 case). There were 3 cases of adenocarcinoma, 3 cases of malignant mixed Mullerian tumor, 1 case of undifferentiated carcinoma and 1 case of serous cystic tumor of low malignancy potential. Serum CA 125 values were followed during treatment and decreased during clinical remission and increased at the time of tumor progression. The mean follow-up duration was 24.3(+28.3) months and 7 patients were alive free of disease and one patients with stage Ic died of the disease. Conclusion Primary fallopian tube cancer is an extremely rare malignancy of the female genitalia and preoperative diagnosis of this disease is difficult. Cytoreductive surgery and postoperative combination chemotherapy seem to be effective treatment and CA 125 value could reflect the disease status during the treatment and follow-up of patients.

Synchronous Adenocarcinoma of Vermiform Appendix and Fallopian Tube: A case report

The adenocarcinoma of appendix and fallopian tube are both very rare. The incidence rate for fallopian tube is less than 1% of all genital malignancies. Fallopian tubes have been very rarely associated with synchronous tumorigenesis, and to the authors knowledge, the combination of mucinous adenocarcinoma of appendix has never been previously reported. The authors experienced a extremely rare case of synchronous adenocarcinoma of appendix and fallopian tube in 56 years old female patient who has suffered for 10days from RLQ abdominal pain. Pathologic examination of the resected specimen revealed a synchronous mucinous type adenocarcinoma of vermiform appendix and fallopian tube.