Tilanus-Linthorst Madeleine, Verhoog Leon, Obdeijn Inge-Marie, Bartels Karina, Menke-Pluymers Marian, Eggermont Alexander, Klijn Jan, Meijers-Heijboer Hanne, van der Kwast Theo, Brekelmans Cecile
Department of Surgery, Erasmus University Medical Center Rotterdam, The Netherlands.
Int J Cancer. 2002 Nov 1;102(1):91-5. doi: 10.1002/ijc.10666.
Female BRCA1/2 mutation carriers develop in up to 50% breast cancer (BC) before age 50 years. We investigated whether the specific histologic features of BRCA1/2-associated breast cancer influence imaging. We correlated the mammographic results with the histology of 34 BC in BRCA1/2 mutation carriers and 34 sporadic cancers in patients, matched for age and year of diagnosis. Mammography was significantly more frequently false-negative in carriers than controls (62% vs. 29% p = 0.01), despite comparable tumor size (mean solidus in circle 1.51 vs. 1.75) and breast density (high 41% vs. 53%). The image in carriers was significantly less as spiculated mass (6 vs. 18 p = 0.01). Cancers of BRCA1/2 mutation carriers had frequently higher mitotic counts (p < 0.0001) and prominent pushing margins around the tumor (p = 0.08) (p = 0.05 for 32 BRCA1). We also observed that prominent "pushing margins" correlated significantly with a false-negative mammography (p = 0.005) and with a mammographic image of a smooth, not a spiculated, mass (p = 0.01). False-negative mammography correlated independently with: BRCA1/2 mutation (p = 0.02), prominent pushing margins (p = 0.03) and high breast density (p = 0.01). MRI was carried out in 12 carriers, had 100% sensitivity and detected 5 cancers, still occult at physical examination and mammography. A BRCA1/2 mutation and high breast density at mammography contribute independently to false-negative mammography results. In mutation carriers any mammographic mass must be regarded with suspicion. Pushing margins of the tumor partly explain these results. For early BC detection in mutation carriers additional methods like MRI may be needed. This may not be necessary in other young women with breast symptoms.
女性BRCA1/2基因突变携带者在50岁之前患乳腺癌（BC）的几率高达50%。我们调查了BRCA1/2相关乳腺癌的特定组织学特征是否会影响成像。我们将34例BRCA1/2基因突变携带者的乳腺癌钼靶检查结果与组织学结果进行了关联，并与34例年龄和诊断年份相匹配的散发性乳腺癌患者的结果进行了对比。尽管肿瘤大小相当（平均直径1.51对1.75）且乳房密度相似（高密度分别为41%对53%），但携带者的钼靶检查假阴性率显著高于对照组（62%对29%，p = 0.01）。携带者的图像中呈毛刺状肿块的情况明显较少（6例对18例，p = 0.01）。BRCA1/2基因突变携带者的癌症通常有更高的有丝分裂计数（p < 0.0001）以及肿瘤周围明显的推挤边缘（p = 0.08）（32例BRCA1携带者中p = 0.05）。我们还观察到明显的“推挤边缘”与钼靶检查假阴性显著相关（p = 0.005），并且与光滑而非毛刺状肿块的钼靶图像相关（p = 0.01）。钼靶检查假阴性独立地与以下因素相关：BRCA1/2基因突变（p = 0.02）、明显的推挤边缘（p = 0.03）和高乳房密度（p = 0.01）。对12例携带者进行了MRI检查，其敏感性为100%，检测出5例在体格检查和钼靶检查中仍未发现的癌症。BRCA1/2基因突变和钼靶检查时的高乳房密度独立地导致了钼靶检查假阴性结果。在突变携带者中，任何钼靶检查发现的肿块都必须引起怀疑。肿瘤的推挤边缘部分解释了这些结果。对于突变携带者早期乳腺癌的检测，可能需要像MRI这样的额外检查方法。对于有乳房症状的其他年轻女性，可能并非如此。
