Anastasi Emanuela, Granato Teresa, Coppa Anna, Manganaro Lucia, Giannini Giuseppe, Comploj Sara, Frati Luigi, Midulla Cecilia
Department of Molecular Medicine, Sapienza University, Rome 00161, Italy; E-Mails:
Int J Mol Sci. 2011 Jan 18;12(1):627-32. doi: 10.3390/ijms12010627.
Neoplasms of the ovary present an increasing challenge to the physician. Neoplastic ovarian cysts can resemble endometriomas in ultrasound imaging and need to be carefully considered in the differential diagnosis. We report the case of a woman with a strong family history of hereditary breast and ovarian cancer, who presented with a pelvic mass. The young girl refused oncogenetic counseling and genetic testing, even though she had a 50% a priori probability of being a BRCA1 mutation carrier. Pelvic magnetic resonance imaging (MRI) and a comparative analysis of the serum concentration of HE-4 and CA125 biomarkers provided accuracy and sensitivity in the diagnosis of a benign ovarian pathology. Based on this experience, we propose that the sensitivity of a screening program based on a HE4 and CA125 assay and MRI in high risk patients with mutations in the BRCA1 and BRCA2 genes may be considered a useful pre-operative tool for the differential diagnosis of pelvic masses.
卵巢肿瘤给医生带来了越来越大的挑战。卵巢肿瘤性囊肿在超声成像中可能类似于子宫内膜瘤，在鉴别诊断中需要仔细考虑。我们报告了一例有遗传性乳腺癌和卵巢癌家族史的女性病例，该女性出现盆腔肿块。尽管这个年轻女孩有50%的先验概率是BRCA1突变携带者，但她拒绝了肿瘤遗传咨询和基因检测。盆腔磁共振成像（MRI）以及血清HE-4和CA125生物标志物浓度的对比分析为诊断良性卵巢病变提供了准确性和敏感性。基于这一经验，我们建议，对于具有BRCA1和BRCA2基因突变的高危患者，基于HE4和CA125检测以及MRI的筛查方案的敏感性可被视为一种用于盆腔肿块鉴别诊断的有用术前工具。
