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[间叶性肿瘤的分子检测:检测什么、何时检测以及如何检测?:一项特别关注新一代免疫化学作为分子检测替代方法价值的综述]

[Molecular testing in mesenchymal neoplasms: What, when, and how to test? : A review with a special focus on the value of next-generation immunochemistry as a substitute for molecular testing].

作者信息

Agaimy Abbas

机构信息

Pathologisches Institut, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Deutschland.

出版信息

Pathologie (Heidelb). 2024 Nov;45(Suppl 1):37-46. doi: 10.1007/s00292-024-01399-2. Epub 2024 Nov 25.

DOI:10.1007/s00292-024-01399-2
PMID:39585408
Abstract

With the widespread use of diverse modern molecular testing tools, the last two decades have seen significant advances in the classification of soft tissue neoplasms. Specifically, numerous molecularly defined new entities have been introduced and many established older entities have received more insightful molecular studies that have developed their classification further. The discrepant therapeutic and prognostic implications of this evolving complexity of the nosology of neoplastic diseases make the precise subtyping of soft tissue neoplasms unavoidable. However, these rapid developments of the modern diagnostic molecular pathology did not only offer efficient solutions to many complex classification issues, but they were accompanied by similarly complex and diverse emerging problems. Most importantly, these advances have not only challenged the historical dogma of some phenotypes that were once considered specific, but they also have questioned the value of diagnostic immunohistochemistry compared to emerging modern diagnostic molecular tools. Moreover, the central question of when to test, what to test, and how to test became more confusing. This review addresses the major molecular categories in soft tissue neoplasms, their characteristics, and the criteria to be used for selecting the most appropriate molecular diagnostic tool to be used in individual cases with a special focus on the value of next generation immunohistochemistry as a substitute for molecular testing.

摘要

随着各种现代分子检测工具的广泛应用,在过去二十年中,软组织肿瘤的分类取得了显著进展。具体而言,引入了许多分子定义的新实体,许多已确立的旧实体也接受了更具洞察力的分子研究,从而进一步完善了它们的分类。肿瘤疾病分类学这种不断演变的复杂性所带来的不同治疗和预后影响,使得软组织肿瘤的精确亚型分类成为必然。然而,现代诊断分子病理学的这些快速发展不仅为许多复杂的分类问题提供了有效的解决方案,还伴随着同样复杂多样的新出现的问题。最重要的是,这些进展不仅挑战了一些曾经被认为具有特异性的表型的历史教条,还质疑了与新兴现代诊断分子工具相比诊断免疫组织化学的价值。此外,何时检测、检测什么以及如何检测这一核心问题变得更加令人困惑。本综述阐述了软组织肿瘤的主要分子类别、它们的特征,以及在个别病例中选择最合适分子诊断工具时应使用的标准,特别关注新一代免疫组织化学作为分子检测替代方法的价值。

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本文引用的文献

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YAP1::KMT2A-rearranged sarcomas harbor a unique methylation profile and are distinct from sclerosing epithelioid fibrosarcoma and low-grade fibromyxoid sarcoma.YAP1::KMT2A重排肉瘤具有独特的甲基化谱,且与硬化性上皮样纤维肉瘤和低级别纤维黏液样肉瘤不同。
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Nuclear DUX4 immunohistochemistry is a highly sensitive and specific marker for the presence of CIC::DUX4 fusion in CIC-rearranged sarcomas: a study of 48 molecularly confirmed cases.核DUX4免疫组化是检测CIC重排肉瘤中CIC::DUX4融合存在的高度敏感和特异的标志物:一项对48例分子确诊病例的研究。
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EWSR1::ATF1 fusions characterize a group of extra-abdominal epithelioid and round cell mesenchymal neoplasms, phenotypically overlapping with sclerosing epithelioid fibrosarcomas, and intra-abdominal FET::CREB fusion neoplasms.
EWSR1::ATF1融合基因特征性地表现为一组腹外上皮样和圆形细胞间叶性肿瘤,其表型与硬化性上皮样纤维肉瘤以及腹内FET::CREB融合基因肿瘤重叠。
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Myxoid Inflammatory Myofibroblastic Sarcoma: Clinicopathologic Analysis of 25 Cases of a Distinctive Sarcoma With Deceptively Bland Morphology and Aggressive Clinical Behavior.黏液样炎症性肌纤维母细胞肉瘤:25 例具有明显形态学特征且临床表现具有欺骗性的、侵袭性临床行为的独特肉瘤的临床病理分析。
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CREB fusion-associated epithelioid mesenchymal neoplasms of the female adnexa: three cases documenting a novel location of an emerging entity and further highlighting an ambiguous misleading immunophenotype.女性附件 CREB 融合相关性上皮样间叶性肿瘤:三例罕见病例报道,提示该疾病存在新的发生部位,且免疫表型存在模糊误导性。
Virchows Arch. 2023 Jun;482(6):967-974. doi: 10.1007/s00428-023-03546-1. Epub 2023 Apr 25.
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Inflammatory and Nested Testicular Sex Cord Tumor: A Novel Neoplasm With Aggressive Clinical Behavior and Frequent EWSR1::ATF1 Gene Fusions.炎性和巢状睾丸性索肿瘤:一种具有侵袭性行为和频繁 EWSR1::ATF1 基因融合的新型肿瘤。
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