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不明原发灶癌患者的诊断挑战。

The diagnostic challenges of patients with carcinoma of unknown primary.

机构信息

Department of Medical Oncology, Gustave Roussy Institute , Villejuif, France.

Department of Medical Oncology, Saint Joseph University , Beirut, Lebanon.

出版信息

Expert Rev Anticancer Ther. 2020 Sep;20(9):775-783. doi: 10.1080/14737140.2020.1807948. Epub 2020 Sep 2.

DOI:10.1080/14737140.2020.1807948
PMID:32779501
Abstract

INTRODUCTION

Cancer of unknown primary (CUP) is a disease entity encompassing heterogeneous malignancies without a clinically-detectable anatomical primary. It is usually a poor prognosis malignancy with dismal prognosis where molecular and genetic testing were expected to be a major breakthrough.

AREAS COVERED

In this review, we provide an overview of the advances in the understanding of the carcinogenesis, biology, diagnosis and treatment of patients with CUP. This review focuses on the advantages and inconveniences of immunohistochemistry and CUP classifiers in assessing the progress in the management of CUP.

EXPERT OPINION

CUP classifiers were expected to gradually replace the classical multistep approach in identifying the culprit tumors to guide site-specific therapy. Immunohistochemistry staining led to the prediction of a single tissue of origin in 10.8-51%. CUP classifiers identified the primary site in 61-89% of these cases and were concordant with immunohistochemistry in 57.1-100%. Immunohistochemistry is cheap, fast and broadly available whereas CUP classifiers are less widely available and have not been validated in randomized control trials. The diagnostic recommendations consist of a standard pathology evaluation based on morphology and algorithmic immunohistochemistry assessment. Physicians should weigh in the input of the CUP classifier to the clinical picture and pathology investigations before performing additional investigations.

摘要

简介

不明原发灶癌(CUP)是一种疾病实体,包含了没有临床可检测到的解剖原发性的异质性恶性肿瘤。它通常是一种预后不良的恶性肿瘤,预后不佳,分子和基因检测有望成为一个重大突破。

涵盖领域

在这篇综述中,我们提供了对理解癌症发生、生物学、诊断和治疗 CUP 患者的进展的概述。本综述重点介绍了免疫组织化学和 CUP 分类器在评估 CUP 管理进展方面的优缺点。

专家意见

CUP 分类器有望逐步取代经典的多步骤方法,以确定导致肿瘤的罪魁祸首,从而指导针对特定部位的治疗。免疫组织化学染色导致在 10.8-51%的病例中预测到单一组织起源。在这些病例中,CUP 分类器确定了原发部位的 61-89%,与免疫组织化学的一致性为 57.1-100%。免疫组织化学便宜、快速且广泛可用,而 CUP 分类器的应用范围较窄,并且尚未在随机对照试验中得到验证。诊断建议包括基于形态学和算法性免疫组织化学评估的标准病理学评估。在进行额外的检查之前,医生应权衡 CUP 分类器对临床情况和病理学研究的输入。

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1
The diagnostic challenges of patients with carcinoma of unknown primary.不明原发灶癌患者的诊断挑战。
Expert Rev Anticancer Ther. 2020 Sep;20(9):775-783. doi: 10.1080/14737140.2020.1807948. Epub 2020 Sep 2.
2
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A Review on Cancer of Unknown Primary Origin: The Role of Molecular Biomarkers in the Identification of Unknown Primary Origin.原发灶不明癌的研究进展:分子标志物在原发灶不明癌中的作用
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Carcinoma of Unknown Primary Site (CUP) With Metastatic Renal-Cell Carcinoma (mRCC) Histologic and Immunohistochemical Characteristics (CUP-mRCC): Results From Consecutive Patients Treated With Targeted Therapy and Review of Literature.原发灶不明的癌(CUP)合并转移性肾细胞癌(mRCC)组织学和免疫组织化学特征(CUP-mRCC):接受靶向治疗的连续患者的结果和文献复习。
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引用本文的文献

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Clinical efficacy of immune checkpoint inhibitors for cancer of unknown primary: a multi-center retrospective study.免疫检查点抑制剂治疗原发灶不明癌症的临床疗效:一项多中心回顾性研究
BMC Cancer. 2025 Aug 16;25(1):1323. doi: 10.1186/s12885-025-14778-6.
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Can Precision Oncology Benefit Patients With Cancers of Unknown Primary?精准肿瘤学能否使原发灶不明癌症患者受益?
Oncologist. 2023 Oct 3;28(10):829-831. doi: 10.1093/oncolo/oyad248.
3
Cancer of unknown primary site in the mandibular region: A case report.下颌区域原发部位不明的癌症:一例报告。
Oncol Lett. 2023 Apr 5;25(5):210. doi: 10.3892/ol.2023.13796. eCollection 2023 May.
4
From Biology to Diagnosis and Treatment: The Ariadne's Thread in Cancer of Unknown Primary.从生物学到诊断与治疗:不明原发灶癌的阿里阿德涅之线。
Int J Mol Sci. 2023 Mar 15;24(6):5588. doi: 10.3390/ijms24065588.
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Clinicopathological, molecular and prognostic characteristics of cancer of unknown primary in China: An analysis of 1420 cases.中国不明原发癌的临床病理、分子和预后特征:1420 例分析。
Cancer Med. 2023 Jan;12(2):1177-1188. doi: 10.1002/cam4.4973. Epub 2022 Jul 13.