Department of Pathology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands.
Cancer Cytopathol. 2013 Oct;121(10):561-7. doi: 10.1002/cncy.21308. Epub 2013 May 29.
The diagnosis of breast lesions is usually confirmed by fine-needle aspiration cytology (FNAC) or histological biopsy. Although there is increasing literature regarding the advantages and limitations of both modalities, there is no literature regarding the accuracy of these modalities for diagnosing breast lesions in high-risk patients, who usually have lesions detected by screening. The objective of the current study was to evaluate diagnostic performance indices of FNAC in breast cancer susceptibility gene (BRCA) mutation carriers.
BRCA1/BRCA2 mutation carriers who underwent FNAC were selected from the database of the Rotterdam Family Cancer Clinic. FNAC accuracy parameters were calculated by taking the outcome of a subsequent histological diagnosis or clinical follow-up as reference standard.
In total, 320 FNACs were obtained, and FNAC examination was followed by histological examination in 150 patients. The rate of insufficient material was 25.6%. Sensitivity was 92.3%, specificity 96.3%. The false-positive rate was 3.7%, the false-negative rate was 7.7%, and accuracy was 94.7%. A substantial proportion of patients (35%) with malignant FNAC results underwent histological biopsy upfront surgical resection. Small lesion size (≤ 1 cm) and nonpalpability of the breast lesion were associated with decreased FNAC accuracy. In 113 patients who had a benign FNAC outcome without histological follow-up, no malignancies were detected during clinical or radiologic surveillance (median follow-up 84 months).
There is a role for FNAC in diagnosing breast lesions of BRCA1/BRCA2 mutation carriers, ie, to confirm a radiological (probably) benign lesion. However, despite the high overall sensitivity of FNAC, the authors recommend histological biopsy as the preferred diagnostic method for high-risk patients who have small or nonpalpable lesions.
乳腺病变的诊断通常通过细针抽吸细胞学检查（FNAC）或组织学活检来确认。尽管关于这两种方法的优势和局限性的文献越来越多，但关于这些方法在高危患者中诊断乳腺病变的准确性的文献却很少，高危患者通常通过筛查发现病变。本研究的目的是评估 FNAC 在乳腺癌易感基因（BRCA）突变携带者中的诊断性能指标。
从鹿特丹家族癌症诊所的数据库中选择接受 FNAC 的 BRCA1/BRCA2 突变携带者。通过将后续组织学诊断或临床随访的结果作为参考标准来计算 FNAC 的准确性参数。
共获得 320 例 FNAC，其中 150 例进行了 FNAC 检查后的组织学检查。材料不足的发生率为 25.6%。敏感性为 92.3%，特异性为 96.3%。假阳性率为 3.7%，假阴性率为 7.7%，准确率为 94.7%。大量（35%）FNAC 结果为恶性的患者接受了组织学活检的初始手术切除。小病变大小（≤1cm）和乳房病变无法触及与 FNAC 准确性降低有关。在 113 例无组织学随访的良性 FNAC 结果的患者中，在临床或放射学监测期间未发现恶性肿瘤（中位随访 84 个月）。
FNAC 在诊断 BRCA1/BRCA2 突变携带者的乳腺病变中有一定作用，即确认影像学（可能）良性病变。然而，尽管 FNAC 的总体敏感性很高，作者建议对有小或不可触及病变的高危患者首选组织学活检作为诊断方法。
