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乳腺癌作为首发原发性恶性肿瘤:常见癌症组合的临床病理特征

Breast cancer as the first primary malignancy: clinical pathological characteristics of common cancer combinations.

作者信息

Ma Yaping, Guo Hui, Hao Yuchen, Song Bin

机构信息

Third Hospital of Shanxi Medical University, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Taiyuan, 030032, China.

Tongji Shanxi Hospital, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, Taiyuan, 030032, China.

出版信息

Discov Oncol. 2025 Aug 23;16(1):1599. doi: 10.1007/s12672-025-03427-w.

DOI:10.1007/s12672-025-03427-w
PMID:40848178
Abstract

With the continuous rise in breast cancer incidence and significant improvement in patient survival, the risk of developing Multiple Primary Malignancies (MPMs) has garnered increasing attention. As the most common malignant tumor in women, breast cancer has a complex pathogenesis involving multiple factors such as genetic predisposition, treatment exposure, and interactions between hormonal pathways. These tumors are often difficult to distinguish from metastases or recurrences in clinical practice, frequently leading to delays in diagnosis and treatment, thereby affecting patient prognosis. Therefore, predicting the occurrence of second primary cancer (SPC) in cancer survivors is important in clinical diagnosis and treatment. This review synthesizes evidence from global cohorts, with an emphasis on Asian populations where relevant, to provide a narrative review of the research progress on Breast Cancer First Primary Malignancy (BCFPM). It focuses on the epidemiological characteristics, mechanisms (including the field cancerization theory and multifocal origin theory), and clinicopathological features of common cancer combinations. The aim is to identify high-risk populations for breast cancer and propose follow-up strategies, providing a scientific basis for the development of clinical prevention and intervention strategies, as well as early diagnosis and treatment.

摘要

随着乳腺癌发病率的持续上升以及患者生存率的显著提高,发生多原发性恶性肿瘤(MPMs)的风险日益受到关注。乳腺癌作为女性最常见的恶性肿瘤,其发病机制复杂,涉及遗传易感性、治疗暴露以及激素途径之间的相互作用等多种因素。在临床实践中,这些肿瘤往往难以与转移瘤或复发瘤相区分,常常导致诊断和治疗延误,进而影响患者预后。因此,预测癌症幸存者中第二原发性癌症(SPC)的发生在临床诊断和治疗中具有重要意义。本综述综合了全球队列研究的证据,重点关注相关的亚洲人群,对乳腺癌第一原发性恶性肿瘤(BCFPM)的研究进展进行叙述性综述。它聚焦于常见癌症组合的流行病学特征、机制(包括场癌化理论和多灶起源理论)以及临床病理特征。目的是识别乳腺癌的高危人群并提出随访策略,为临床预防和干预策略的制定以及早期诊断和治疗提供科学依据。

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本文引用的文献

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Intrinsic PDL1 Signaling Modulates TGFBI-Mediated Growth Suppression in Lung Adenocarcinoma.内源性程序性死亡受体配体1信号传导调节肺腺癌中转化生长因子β诱导蛋白(TGFBI)介导的生长抑制。
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Second-hit CDH1 gene mechanisms in hereditary diffuse gastric and lobular breast cancer syndrome: frequency and impact on tumorigenesis.遗传性弥漫性胃癌和小叶性乳腺癌综合征中CDH1基因的二次打击机制:频率及其对肿瘤发生的影响
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Clonal Hematopoiesis and Solid Cancers.
克隆性造血与实体癌
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Racial Differences in ctDNA Profiles, Targeted Therapy Use, and Outcomes in Metastatic Breast Cancer.转移性乳腺癌中循环肿瘤DNA(ctDNA)特征、靶向治疗应用及预后的种族差异
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BRCA functional domains associated with high risk of multiple primary tumors and domain-related sensitivity to olaparib: the Prometheus Study.与多原发性肿瘤高风险相关的BRCA功能域及与奥拉帕利相关的结构域敏感性:普罗米修斯研究
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Second Primary Cancer Risks After Breast Cancer in and Pathogenic Variant Carriers.BRCA1和BRCA2致病变异携带者患乳腺癌后的第二原发性癌症风险。
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Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.遗传性 DNA 损伤修复基因改变与异时性乳腺癌和结直肠癌。
Int J Mol Sci. 2024 Sep 24;25(19):10275. doi: 10.3390/ijms251910275.
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Developmental mosaicism underlying EGFR-mutant lung cancer presenting with multiple primary tumors.EGFR 突变型肺癌伴发多原发肿瘤的发育嵌合体现象。
Nat Cancer. 2024 Nov;5(11):1681-1696. doi: 10.1038/s43018-024-00840-y. Epub 2024 Oct 15.
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Clinicopathological analysis of patients with dual malignancies: A retrospective study.双原发恶性肿瘤患者的临床病理分析:一项回顾性研究。
J Cancer Res Ther. 2024 Apr 1;20(3):822-826. doi: 10.4103/jcrt.jcrt_2321_22. Epub 2023 May 3.
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