新出现的融合相关间叶肿瘤:五种 "新型 "实体的表格指南和评估。

IF 2.5 4区 医学 Q2 PATHOLOGY Journal of Clinical Pathology Pub Date : 2024-09-20 DOI:10.1136/jcp-2024-209460
Jinesa Moodley, Ivan Chebib
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引用次数: 0

摘要

目的:分子病理学领域在肉瘤诊断的临床影响方面取得了重大进展,给骨和软组织肿瘤的命名带来了挑战。分子数据的激增导致了新型融合的发现和新 "实体 "的描述。为了说明这一点,我们选择了五个新出现的新型融合实体:YAP1::TFE3融合的肺透明细胞间质瘤、GAB1::ABL1融合的纺锤形细胞瘤、NUTM1重组肉瘤、NR1D1重组肉瘤和钙化软骨间充质肿瘤:方法:对这五种实体的相关病例报告和系列病例进行了文献综述,并收集了临床病理学数据。此外,本综述还以表格形式列出了最近描述的融合相关间叶肿瘤:结果:讨论了每个实体的形态学和免疫组化特征以及诊断难题:在此,我们对一些新出现的间叶肿瘤进行了综述,但其中哪些肿瘤将达到 "新实体 "的门槛仍有待确定。
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Emerging fusion-associated mesenchymal tumours: a tabular guide and appraisal of five 'novel' entities.

Aims: The field of molecular pathology has undergone significant advancements in the clinical impact of sarcoma diagnosis, resulting in challenges to nosology of bone and soft tissue tumours. The surge in molecular data has led to the identification of novel fusions and description of new 'entities'. To illustrate this, we have selected five emerging entities with novel fusions: clear cell stromal tumour of the lung with YAP1::TFE3 fusion, GAB1::ABL1 fusion spindle cell neoplasm, NUTM1-rearranged sarcomas, NR1D1-rearranged sarcomas and calcified chondroid mesenchymal neoplasms.

Methods: Literature for the relevant case reports and case series of these five entities were reviewed and clinicopathological data was collected. Additionally, this review includes a table format of recently described fusion-associated mesenchymal neoplasms.

Results: The morphological and immunohistochemical features, along with diagnostic challenges, are discussed for each entity.

Conclusions: Here, we have provided a review of selected emerging mesenchymal neoplasms, which of these neoplasms will meet the threshold to be 'new entities' remains to be determined.

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来源期刊
CiteScore
7.80
自引率
2.90%
发文量
113
审稿时长
3-8 weeks
期刊介绍: Journal of Clinical Pathology is a leading international journal covering all aspects of pathology. Diagnostic and research areas covered include histopathology, virology, haematology, microbiology, cytopathology, chemical pathology, molecular pathology, forensic pathology, dermatopathology, neuropathology and immunopathology. Each issue contains Reviews, Original articles, Short reports, Correspondence and more.
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