RESUMO
BACKGROUND: SMARCA4 is gene whose protein product participates in chromatin remodeling. Somatic mutations in this gene are associated with non-small cell lung cancer and malignant rhabdoid tumors, and both germline and somatic mutations are seen with small cell carcinoma of the ovary, hypercalcemic type. To date, there are no data identifying an association with more common epithelial carcinomas of the ovary. CASE: The patient is a 57-year-old female without any significant family history of cancer, diagnosed with high-grade serous carcinoma of the ovary. Per guideline, she underwent genetic testing, and was found to have a deleterious germline SMARCA4 mutation. She was treated with standard chemotherapy and an optimal tumor reduction, with a complete response to treatment. CONCLUSION: The etiology of this patient's high-grade serous carcinoma is unknown. If the SMARCA4 gene plays a role in serous ovarian carcinoma it is with variable expressivity. Further investigation into the role of SMARCA4 as a susceptibility gene for epithelial ovarian cancer is warranted.
RESUMO
OBJECTIVE: With the introduction of multimodality therapy for cervical cancer, many women will be long-term survivors in need of comprehensive surveillance care. Our goals were to evaluate patterns of obesity and smoking in a cohort of cervical cancer survivors and to assess the potential influence of these comorbidities on subsequent follow-up. METHODS: We reviewed the records of patients treated for invasive cervical cancer at our institution from 2000 to 2003 who had no evidence of disease for 3 or more years. Demographic and clinical data were collected, including smoking history and anthropometric measurements. Body mass index (BMI) was categorized according to World Health Organization criteria. Logistic regression and Wilcoxon rank sum analyses were performed. RESULTS: Two hundred ninety-eight women had complete follow-up data at 3 years. The median age at diagnosis was 43.5 years (range, 17.6-87.1 years). At diagnosis, 31.9% had a normal BMI, 28.2% were overweight, and 34.6% were obese compared with 31.7%, 21.1%, and 30.2% at 3 years, respectively. Of the 51 women whose BMI categorization changed, 33 (64.7%) had weight gain, and 18 (35.3%) had weight loss. By paired analyses, increase in BMI was significant over the 3-year interval (P < 0.001). Seventy patients actively smoked at diagnosis. Compared with nonsmokers, current smokers had a greater odds of referral to the pain service (odds ratio [OR], 6.56; confidence interval [CI], 6.26-16.43; P < 0.001), physical therapy (OR, 4.74; CI, 1.29-17.36; P = 0.02), and gastroenterology (OR, 2.25; CI, 1.14-4.24; P = 0.02). CONCLUSIONS: Obesity and smoking are significant comorbidities that may complicate care in cervical cancer survivors. Interventions aimed at modifying these risk factors should be routinely undertaken in this population.
