Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Breast cancer is the most prevalent malignancy in women in Western countries, currently accounting for one third of all female cancers. Familial aggregation is thought to account for 5-10 % of all BC cases, and germline mutations in BRCA1 and BRCA2 account for less of the half of these inherited cases. In Lebanon, breast cancer represents the principal death-causing malignancy among women, with 50 % of the cases diagnosed before the age of 50 years.In order to study BRCA1/2 mutation spectra in the Lebanese population, 72 unrelated patients with a reported family history of breast and/or ovarian cancers or with an early onset breast cancer were tested. Fluorescent direct sequencing of the entire coding region and intronic sequences flanking each exon was performed.A total of 38 BRCA1 and 40 BRCA2 sequence variants were found. Seventeen of them were novel. Seven confirmed deleterious mutations were identified in 9 subjects providing a frequency of mutations of 12.5 %. Fifteen variants were considered of unknown clinical significance according to BIC and UMD-BRCA1/BRCA2 databases.In conclusion, this study represents the first evaluation of the deleterious and unclassified genetic variants in the BRCA1/2 genes found in a Lebanese population with a relatively high risk of breast cancer.

Value of magnetic resonance imaging for the diagnosis of ovarian tumors: a review.

This article reviews the value of magnetic resonance imaging (MRI) for the diagnosis of ovarian tumors especially when ultrasonography is indeterminate. Although ultrasonography is the first imaging technique used to investigate suspected pelvic masses, it has a limited capacity for tissue characterization. In addition to morphological characteristics, many tissue parameters such as T1, T2, perfusion, and diffusion contribute to signal intensity, so MRI is able to identify various types of tissue contained in pelvic masses. Magnetic resonance imaging helps to locate large solid masses and to distinguish benign from malignant ovarian tumors, with an overall accuracy of 88% to 93% for the diagnosis of malignancy. The aims of this review are 3-fold. First, we review state-of-the-art and usual MRI techniques and published findings. Second, we recall the MR features most useful for assessing the main ovarian tumors. Finally, we discuss the relevance of various features for distinguishing between benign, borderline, and invasive ovarian tumors.

Value of dynamic enhanced magnetic resonance imaging for distinguishing between ovarian fibroma and subserous uterine leiomyoma.

PURPOSE: The purpose of this study was to assess the accuracy of magnetic resonance imaging (MRI), particularly, dynamic MRI, in distinguishing ovarian fibromas from subserous uterine leiomyomas. MATERIAL AND METHODS: Fifteen ovarian fibromas and 15 subserous uterine leiomyomas were retrospectively reviewed. All MR examinations included dynamic contrast-enhanced (DCE) sequences. Morphological criteria (size, T1 and T2 signals, ovarian tissue, associated uterine leiomyoma, and pelvic fluid), arterial vessels, time-intensity curves (maximal enhancement and signal intensity at 30, 60, and 90 seconds), and signal intensity on delayed T1-weighted images were compared between the 2 groups. RESULTS: No significant difference in morphological criteria was noted between the 2 types of masses. Visualization of arterial vessels was more frequent in uterine leiomyomas than in ovarian fibromas (P= 0.002). The DCE MR enhancement rate was higher for uterine leiomyomas than for ovarian fibromas in terms of both maximal enhancement (P < 0.001) and enhancement rate at 30 (P = 0.009), 60 (P = 0.007), and 90 seconds (P = 0.0009). On delayed T1 postcontrast sequence, no statistical difference exists between signal intensity of ovarian fibromas and uterine leiomyomas. CONCLUSION: Our findings suggest that DCE MRI can distinguish ovarian fibromas from uterine leiomyomas and should be used if sonography fails to show the origin of a pelvic mass.

MR imaging compared with intraoperative frozen-section examination for the diagnosis of adnexal tumors; correlation with final histology.

The aim was to compare the accuracy of magnetic resonance imaging (MRI) and intraoperative consultation (IC) for the diagnosis of adnexal masses, with reference to final histology. MRI was performed in 136 women with sonographically indeterminate adnexal masses. IC included macroscopic and frozen-section examination. Macroscopic examination and MRI determined size, nature, and presence of vegetations or solid portions within masses. All masses were characterized as benign or malignant according to previously published MR imaging and histopathologic criteria. Sensitivities, specificities, and predictive values for the diagnosis of malignancy of MRI and IC were assessed. Histology revealed 168 adnexal masses (99 benign, 23 borderline and 46 invasive). Frozen sections were examined in 151 cases. Among the 151 adnexal masses studied by both MRI and IC, respective sensitivities, specificities, positive and predictive values of both methods for the diagnosis of malignancy were 89.7% and 84.5%, 91.4% and 100%, 86.7% and 100%, and 93.4% and 91.3%. Sensitivities of MR imaging and frozen section for the diagnosis of serous versus mucinous borderline tumors were 33.3% and 93.3%, and 62.5% and 12.5%, respectively. MRI is less accurate than IC for characterizing adnexal masses. However, MRI may increase the relevance of IC for borderline mucinous tumors.