乳腺癌放疗诱发的未分化多形性肉瘤的临床病理学和遗传学特征:三个肿瘤的病例系列和全面的文献综述。

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS
Ting Lei, Zhiyi Shen, Mengjia Shen, Lingfang Du, Yongqiang Shi, Yan Peng, Zidi Zhou, Wenyue Da, Xi Chen, Qing Li
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引用次数: 0

摘要

目的:与原发性乳腺肉瘤(BSs)相比,放疗诱发肉瘤(RIS)是继发性乳腺肉瘤中较少见的一种。未分化多形性肉瘤(UPS)在 RIS 中更为罕见。本研究旨在介绍乳腺放疗诱发的 UPS 的临床病理和分子特征:方法:苏州大学附属第三医院开展了一项回顾性研究,分析了3例乳腺癌放疗后诱发的未分化多形性肉瘤(UPS)患者,时间跨度为2006年至2023年。从病历中提取了临床和病理变量,并采用免疫组化方法分析了这些肿瘤的免疫表型。基因组特征通过 DNA 和 RNA 测序技术进行评估。为了更好地描述肿瘤的特征,研究人员还查阅了文献中的另外15个病例:受影响的部位包括胸壁和乳房,潜伏期从 6 年到 17 年不等。肿瘤细胞呈多形性,并表现出高度病理性有丝分裂。值得注意的是,有两个病例的病情进展加快,分别在初次诊断后的 48 个月和 7 个月内出现肿瘤复发和转移。两个主要发现的基因是 TP53(2/3,66.7%)和 RB1(1/3,33.3%)。通过分析体细胞拷贝数变异(CNV),发现MCL1(1/3,33.3%)和MYC(1/3,33.3%)这两个癌基因的CNV发生了增殖。病例1、病例2和病例3的肿瘤突变负荷(TMB)值分别为5.9 mut/Mb、1.0 mut/Mb和3.0 mut/Mb。此外,RNA-NGS(下一代测序)分析显示,病例 2 中存在一种名为 COL3A1-GULP1 的新型基因融合:根据我们对研究结果和以往报告的深入分析,放疗诱发的 UPS 表现出高度多样化且经常出现严重的临床和生物学行为。利用基因组测序鉴定肿瘤的形成有助于了解其生物学行为并确定个性化治疗方案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinicopathological and genetic characterization of radiotherapy-induced undifferentiated pleomorphic sarcoma following breast cancer: a case series of three tumors and comprehensive literature review.

Aims: Compared to primary breast sarcoma (BSs), radiotherapy-induced sarcoma (RIS) is a less frequent type of secondary breast sarcoma. Undifferentiated pleomorphic sarcoma (UPS) is an even rarer occurrence within the RIS category. This study aimed to present the clinicopathologic and molecular features of breast radiotherapy-induced UPS.

Methods: A retrospective study was conducted at the Third Affiliated Hospital of Soochow University to analyze three patients with radiation-induced undifferentiated pleomorphic sarcoma (UPS) following breast cancer, spanning from 2006 to 2023. The clinical and pathological variables were extracted from the medical records, while immunohistochemistry was employed to analyze the immunophenotypes of these tumors. Genomic characteristics were assessed through DNA and RNA sequencing techniques. Another 15 cases from the literature were also reviewed to better characterize the tumor.

Results: The affected areas encompass the chest wall and breasts, with an incubation period ranging from 6 to 17 years. The tumor cells exhibit pleomorphism and demonstrate a high degree of pathological mitosis. Notably, two cases displayed an accelerated disease progression, characterized by recurrent tumors and metastases occurring within short intervals of 48 and 7 months respectively subsequent to the initial diagnosis. The two prevailing identified genes were TP53 (2/3, 66.7%) and RB1 (1/3, 33.3%). Through analysis of somatic copy number variation (CNV), it was discovered that two oncogenes, MCL1 (1/3, 33.3%) and MYC (1/3, 33.3%), had experienced gains in CNV. The Tumor Mutational Burden (TMB) values for case 1, case 2, and case 3 were 5.9 mut/Mb, 1.0 mut/Mb, and 3.0 mut/Mb, respectively. Moreover, the analysis of RNA-NGS (next-generation sequencing) revealed the presence of a novel gene fusion, named COL3A1-GULP1, in case 2.

Conclusions: Based on our thorough analysis of research findings and previous reports, it is evident that radiotherapy-induced UPS exhibits a highly diverse and frequently severe clinical and biological behavior. Identifying tumor formation using genome sequencing can help understand its biological behavior and determine personalized treatments.

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来源期刊
ACS Applied Bio Materials
ACS Applied Bio Materials Chemistry-Chemistry (all)
CiteScore
9.40
自引率
2.10%
发文量
464
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