乳腺癌 HER2 肿瘤内基因异质性的病理特征及临床意义。
Pathologic Features and Clinical Implications of Breast Cancer With HER2 Intratumoral Genetic Heterogeneity.
机构信息
Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH.
出版信息
Am J Clin Pathol. 2019 Jun 5;152(1):7-16. doi: 10.1093/ajcp/aqz010.
OBJECTIVES
To review breast cancer with human epidermal growth factor receptor 2 (HER2) genetic heterogeneity (GH), with a focus on clinician interpretation of the results and subsequent management.
METHODS
We retrospectively searched all consecutive invasive breast cancers that underwent HER2 fluorescent in situ hybridization testing and identified cases with HER2 GH.
RESULTS
Eleven (0.4%) cases of primary breast tumors with reported HER2 GH were identified over 76 months. HER2-positive tumor cells comprised a mean ± SD of 20% ± 15% of the overall tumor population (range, 5%-50%) and exhibited high levels of amplification (HER2/CEP17 = 5.4 ± 2.9). Three cases had morphologic heterogeneity. Of the four patients who completed neoadjuvant chemotherapy, two had trastuzumab; all showed a partial pathologic response. We identified two cases in which there appeared to be clinical misinterpretation of the HER2 results.
CONCLUSIONS
HER2 GH is an infrequent event, may contain morphologic heterogeneity, could infer incomplete response to neoadjuvant therapy, and requires adequate communication with treating clinicians.
目的
回顾人表皮生长因子受体 2（HER2）基因异质性（GH）的乳腺癌，重点关注临床医生对结果的解读和后续管理。
方法
我们回顾性地搜索了所有连续进行 HER2 荧光原位杂交检测的浸润性乳腺癌病例，并确定了 HER2 GH 病例。
结果
在 76 个月的时间里，共发现 11 例（0.4%）原发性乳腺癌伴有 HER2 GH。HER2 阳性肿瘤细胞占整个肿瘤群体的平均（SD）20%±15%（范围，5%-50%），并表现出高水平的扩增（HER2/CEP17=5.4±2.9）。有 3 例存在形态学异质性。在完成新辅助化疗的 4 名患者中，有 2 名接受了曲妥珠单抗治疗；所有患者均显示部分病理缓解。我们发现有 2 例似乎存在对 HER2 结果的临床误解。
结论
HER2 GH 是一种罕见的事件，可能包含形态学异质性，可能提示对新辅助治疗的不完全反应，需要与治疗临床医生进行充分沟通。
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