To investigate the effect of neoadjuvant chemotherapy in patients with advanced vulvar cancer and to provide references for clinical treatment.Clinical and pathological data of 12 patients with advanced vulvar carcinoma were collected. The response and operability rates, adverse effects, and prognosis of neoadjuvant chemotherapy were retrospectively analyzed.The mean patient age was 45.8 (range 26–69) years. Among 12 patients, 9 underwent treatment with bleomycin and cisplatin with or without vincristine. The overall response rate was 67%. Five patients (56%) experienced grade 1 or 2 bone marrow suppression or gastrointestinal reactions. Seven patients (78%) underwent radical surgery. The mean overall survival time was 34.1 (range 3–69) months, the mean progression free survival time was 26 (range 3–69) months, and the 1-year survival rate was 83%. The other 3 patients received combined paclitaxel and cisplatin treatment. The overall response rate was 67%. All 3 patients (100%) experienced grade 2 hair loss or anemia and 2 of them (67%) underwent radical vulvectomy. The mean overall survival time was 11.7 (range 5–15) months, the mean progression free survival time was 7.7 (range 3–15) months and the 1-year survival rate was 100%. Time to overall survival and progression free survival were not significantly different between the 2 groups (P = .46 and P = .39).Owing to their high overall response rate and tolerable adverse effects, either bleomycin–cisplatin-based or paclitaxel-based neoadjuvant chemotherapy regimen can be considered a therapeutic option for advanced vulvar cancer.

Rationale:The breast cancer susceptibility gene (BRCA) is an important tumor suppressor gene and tumor susceptibility gene. Germ line BRCA1/2 mutations significantly increase the risk of breast cancer and other cancers in women.Patient concerns:A 48-year-old woman was diagnosed with breast cancer at the age of 42 and subsequently diagnosed with ovarian cancer at the age of 48. Her sister had a history of breast cancer and her mother died from ovarian cancer.Diagnoses:The patient has a family history of tumors. BRCA1/2 mutations was proved in this family members.Interventions:Sanger sequencing was used to evaluate the BRCA1/2 gene status of the patient and her sister to identify the genetic mutation sites.Outcomes:They had the same genetic mutation, namely, the c.3487_3488insA (p.Thr1163AsnfsX2) mutation in the BRCA1 gene, which is a novel mutation.Lessons:This novel mutation may be a new pathogenic mutation of the BRCA1 gene. Its relationship to breast and ovarian cancers needs to be further verified in more patient cases. Moreover, mutant protein functions in both cell and animal models are also needed.