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神经内分泌型乳腺癌:多基因检测能否有助于指导治疗决策?病例报告。

Neuroendocrine Breast Tumors: Could Multigene Assays Help in Guiding Treatment Decisions? Case Presentation.

机构信息

Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Genekor Medical S.A, Athens, Greece;

出版信息

In Vivo. 2024 May-Jun;38(3):1443-1447. doi: 10.21873/invivo.13587.

Abstract

BACKGROUND/AIM: Breast cancer remains the most prevalent type of cancer among women worldwide, and it remains the primary cause of cancer-related deaths in this demographic. Neuroendocrine breast cancer (NBC), an uncommon subtype comprising less than 1% of cases, typically occurs in older women and displays as a slow-growing, low-grade condition. NBC exhibits distinct histological patterns and immunohistochemical markers. Given the limited data on NBC, assays are required that will provide information on molecular profiling and assist in clinical decision making. The aim of the study was to investigate whether a modern Multigene Assay (MGA) could assist on treatment planning of NBC patients.

CASE REPORT

A cohort of four patients was analyzed using a MGA. The presented cases featured young, pre-menopausal women with clear NBC, lacking family history. All were lymph node-negative, with robust expression of neuroendocrine markers. Despite high hormone receptor expression, all tumors were poorly differentiated with elevated Ki67 levels. Oncotype DX analysis indicated a need for chemotherapy in three cases and not in one. This underscores the heterogeneity within NBC, emphasizing the importance of personalized treatment decisions.

CONCLUSION

While NBC is rare and lacks extensive studies, the use of multigene assays like Oncotype DX may play a pivotal role in treatment planning, especially in cases with varying histological parameters.

摘要

背景/目的:乳腺癌仍然是全球女性中最常见的癌症类型,也是该年龄段女性癌症相关死亡的主要原因。神经内分泌乳腺癌(NBC)是一种罕见的亚型,占病例的比例不到 1%,通常发生在老年女性中,表现为生长缓慢、低级别状态。NBC 具有独特的组织学模式和免疫组织化学标志物。鉴于 NBC 的相关数据有限,需要进行检测以提供有关分子谱的信息,并辅助临床决策。本研究旨在探讨现代多基因检测(MGA)是否能有助于 NBC 患者的治疗计划。

病例报告

对一组 4 名患者使用 MGA 进行了分析。所呈现的病例是年轻的绝经前女性,明确诊断为 NBC,无家族史。所有患者均为淋巴结阴性,神经内分泌标志物表达强烈。尽管激素受体表达水平较高,但所有肿瘤均分化较差,Ki67 水平升高。Oncotype DX 分析表明,三例患者需要化疗,一例患者不需要。这突显了 NBC 内部的异质性,强调了个性化治疗决策的重要性。

结论

虽然 NBC 较为罕见且缺乏广泛的研究,但使用多基因检测,如 Oncotype DX,可能在治疗计划中发挥关键作用,特别是在具有不同组织学参数的情况下。

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