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BRCA 基因突变携带者中筛查性乳腺癌与间期乳腺癌的差异。

Differences between screen-detected and interval breast cancers among BRCA mutation carriers.

机构信息

Breast Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, 300 East 66th Street, New York, NY, 10065, USA.

Biostatistics Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

出版信息

Breast Cancer Res Treat. 2019 May;175(1):141-148. doi: 10.1007/s10549-018-05123-6. Epub 2019 Jan 23.

Abstract

BACKGROUND

BRCA mutation carriers have an elevated lifetime breast cancer risk and remain at risk for interval cancer development. We sought to compare BRCA mutation carriers with screen-detected versus interval breast cancers.

METHODS

Women with a known BRCA mutation prior to a breast cancer diagnosis were identified. Clinical and pathologic factors, and imaging within 18 months of diagnosis were compared among screen-detected versus interval cancers. Interval cancers were those detected by physical exam among women undergoing regular screening.

RESULTS

Of 124 breast cancers, 92 were screen and 22 clinically detected, of which 11 were interval cancers among regular screeners, and 10 were incidentally found on prophylactic mastectomy. Women with interval cancers were younger, had lower body mass indexes, and were more likely to be Black than those with screen-detected cancers (p < 0.05). Interval cancers were all invasive, larger, more likely to be node positive, and more likely to require axillary lymph node dissection and chemotherapy (p < 0.05). No significant differences were seen by BRCA mutation, mammographic density, MRI background parenchymal enhancement, tumor grade, or receptor status between cohorts. Women screened with both mammogram and MRI had significantly lower proportions of interval cancers compared to women screened with only mammogram or MRI alone (p < 0.05).

CONCLUSIONS

Interval breast cancers among BRCA mutation carriers have worse clinicopathologic features than screen-detected tumors, and require more-aggressive medical and surgical therapy. Imaging with mammogram and MRI is associated with lower interval cancer development and should be utilized among this high-risk population.

摘要

背景

BRCA 基因突变携带者的终身乳腺癌风险增加,并且仍然存在间隔期癌症发展的风险。我们旨在比较 BRCA 基因突变携带者的筛查发现与间隔期乳腺癌。

方法

在诊断乳腺癌之前确定已知 BRCA 基因突变的女性。比较筛查与间隔期乳腺癌的临床和病理因素以及诊断前 18 个月的影像学表现。间隔期乳腺癌是指在常规筛查中通过体格检查发现的癌症。

结果

在 124 例乳腺癌中,92 例为筛查发现,22 例为临床发现,其中 11 例为常规筛查的间隔期乳腺癌,10 例为预防性乳房切除术时偶然发现。间隔期乳腺癌患者更年轻,体重指数更低,且黑人患者多于筛查发现的乳腺癌患者(p<0.05)。间隔期乳腺癌均为浸润性,更大,更可能淋巴结阳性,更可能需要腋窝淋巴结清扫和化疗(p<0.05)。两组间 BRCA 基因突变、乳腺钼靶密度、MRI 背景实质增强、肿瘤分级或受体状态均无显著差异。与仅行乳腺钼靶或 MRI 筛查的女性相比,同时行乳腺钼靶和 MRI 筛查的女性间隔期乳腺癌的比例显著降低(p<0.05)。

结论

BRCA 基因突变携带者的间隔期乳腺癌具有比筛查发现的肿瘤更差的临床病理特征,需要更积极的医疗和手术治疗。乳腺钼靶和 MRI 联合成像与间隔期癌症的低发生率相关,应在高危人群中应用。

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