The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.

Various guidelines recommend that women with triple-negative breast cancer should be tested for BRCA1 mutations, but the prevalence of mutations may vary with ethnic group and with geographic region, and the optimal cutoff age for testing has not been established. We estimated the frequencies of BRCA1 and BRCA2 (BRCA) mutations among 190 women with triple-negative breast cancer, unselected for family history, diagnosed at age 50 or less at a single hospital in Mexico City. Patients were screened for 115 recurrent BRCA mutations, which have been reported previously in women of Hispanic origin, including a common large rearrangement Mexican founder mutation (BRCA1 ex9-12del). A BRCA mutation was detected in 44 of 190 patients with triple-negative breast cancer (23 %). Forty-three mutations were found in BRCA1 and one mutation was found in BRCA2. Seven different mutations accounted for 39 patients (89 % of the total mutations). The Mexican founder mutation (BRCA1 ex9-12del) was found 18 times and accounted for 41 % of all mutations detected. There is a high prevalence of BRCA1 mutations among young triple-negative breast cancer patients in Mexico. Women with triple-negative breast cancer in Mexico should be screened for mutations in BRCA1.

Overweight and obesity as poor prognostic factors in locally advanced breast cancer patients.

Obesity and overweight are established risk factors for the development of breast cancer. They are also associated with poor prognosis for higher risk of disease recurrence and lower overall survival (OS). The aim of this study was to evaluate the influence of overweight and obesity in OS in patients with locally advanced breast cancer (LABC) treated with neoadjuvant chemotherapy. This is a retrospective analysis that included 819 patients diagnosed with LABC between January 2004 and December 2008. The patients were treated with neoadjuvant chemotherapy (NAT) based on anthracyclines, taxanes, or both, followed by surgery. For comparison, patients were divided into the normal weight (NW) group or the overweight/obesity (OW/OB) group. The prevalence of overweight/obesity was 74 %. General characteristics of the patients, including age, tumor size, clinical stage, nuclear grade, hormone receptors, and HER2 expression, were similar between both groups. At a median follow-up of 28 months, we found a statistically significant difference in OS between the two groups, achieving a 91.5 % in NW patients versus 85.9 % in the OW/OB group (P = 0.050). Cox multivariate analysis demonstrated that obesity was an independent factor for poor prognosis, with a hazard ratio of 1.79 (95 % CI (Confidence Interval) 1.09-2.96; P = 0.022). This is the first Mexican study that confirms the role of OW/OB as a risk factor for poor outcome among patients with LABC. Obesity in our country is a public health problem and requires strong preventive intervention strategies for its control, especially among patients diagnosed with breast cancer.

[Exploration of the anterior segment by optical coherence tomography-3]. / Exploración del segmento anterior mediante tomografía óptica de coherencia 3.

PURPOSE: To show the utility of optical coherence tomography (OCT) for studying the anterior segment and to explain its potential advantages as compared to ultrasonic biomicroscopy (UBM). MATERIALS AND METHODS: We have described the findings in 5 patients with different pathologies of the anterior segment, all of whom were studied with UBM and OCT-3 adjusted for the anterior segment. There were 2 cases of an acute attack of closed angle glaucoma, 1 case of rubeosis iridis, 1 case of penetrating ocular trauma and 1 case of a primary stromal iris cyst. RESULTS: OCT was found to be as useful as UBM in detecting angle closure in patients affected by an acute attack of glaucoma. In addition, OCT was more comfortable for the patient and faster than UBM in obtaining images, with the exploration mean time using OCT being less than five minutes while that with UBM was over ten minutes. OCT has also been demonstrated to be a safe and valuable non-contact examination in other iris pathologies such as rubeosis iridis, for checking the permeability of iridotomies and even for studying iris masses such as primary stromal iris cysts. In these entities OCT may reach a higher resolution than ultrasonic biomicroscopy. CONCLUSION: OCT-3, with an adjustable focus, can obtain images from the scleral angle, as well as from other ocular structures like the iris, thus assisting in the diagnosis of numerous pathologies.

Secretory carcinoma of the breast containing the ETV6-NTRK3 fusion gene in a male: case report and review of the literature.

BACKGROUND: Secretory carcinoma (SC) of the breast is a rare and indolent tumor. Although originally described in children, it is now known to occur in adults of both sexes. Recently, the tumor was associated with the ETV6-NTRK3 gene translocation. CASE PRESENTATION: A 52-year-old male was diagnosed with secretory breast carcinoma and underwent a modified radical mastectomy. At 18 months the tumor recurred at the chest wall and the patient developed lung metastases. He was treated concurrently with radiation and chemotherapy without response. His tumor showed the ETV6-NTRK3 translocation as demonstrated by fluorescent in situ hybridization (FISH). CONCLUSION: SC is a rare slow-growing tumor best treated surgically. There are insufficient data to support the use of adjuvant radiation or chemotherapy. Its association with the ETV6-NTRK3 fusion gene gives some clues for the better understanding of this neoplasm and eventually, the development of specific therapies.

Adjuvant high-dose chemotherapy supported by peripheral blood stem cell transplantation for high-risk cervical carcinoma.

Cervical carcinoma is a common disease for which the prognosis has not been substantially improved with standard locoregional treatments. Three stage IB patients with untreated cervical carcinoma were treated with high-dose chemotherapy and refrigerated peripheral blood stem cell support using the ICE program (Ifosfamide 10 g/m2 plus mesna at 100% of the ifosfamide dose; Carboplatin at 1.5 g/m2 and Etoposide 2.1 g/m2). Patients received the treatment in an adjuvant setting after radical hysterectomy with pelvic lymph-node dissection and postoperative cisplatin-based standard-dose chemotherapy. All patients underwent postoperative radiotherapy. The treatment was well-tolerated, all patients had rapid hematologic recovery, and the most frequent complications were grade 3 mucositis and neutropenic fever. The three patients are disease-free at 58, 60, and 63 months of follow-up. Our results show that adjuvant high-dose chemotherapy could be effective to reduce the likelihood of relapse in high-risk patients. High-dose chemotherapy deserves a formal evaluation in high-risk cervical cancer.

Misoprostol prophylaxis for high-dose chemotherapy-induced mucositis: a randomized double-blind study.

From April 1993 to September 1993, 15 patients with lymphoid or solid neoplasms underwent 16 non-cryopreserved peripheral stem cell transplantation courses using the ICE (ifosfamide, carboplatin, etoposide) program. They were randomized in a double-blind clinical trial to received oral misoprostol or placebo for mucositis prophylaxis. The active drug or placebo administration began jointly with chemotherapy at day -4 and was continued until day 16. The mucositis incidence and severity was significantly higher in patients who received misoprostol. We found no differences regarding myelosuppression, infections or other chemotherapy complications. Our results do not support the use of oral misoprostol as administered in this study, for high-dose chemotherapy-induced mucositis prophylaxis.