子宫平滑肌瘤样炎性肌纤维母细胞瘤伴罕见ALK::SYN3融合:临床病理和分子分析。

IF 2.3 3区 医学 Q2 PATHOLOGY
Cao Ma, Xiaoying Wei, Zhe Chen, Xiangzhi Hao, Yuping Sun, Jie Zi, Chunyan Chu, Lihua Zhang
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引用次数: 0

摘要

子宫炎性肌纤维母细胞瘤(IMT)是一种相对罕见的子宫间质肿瘤,复发率为25%,转移率为2%。由于IMT经常包含ALK基因重排,一些患者可能受益于酪氨酸激酶抑制剂的治疗,这使得准确识别这种肿瘤至关重要。在这里,我们报告一个38岁的女性患者的肿瘤临床类似子宫平滑肌瘤。镜下,梭形肿瘤细胞呈有序相交的束状排列,伴炎性细胞稀疏浸润,明显缺乏粘液样基质。免疫组织化学和分子检测显示ALK::SYN3融合,提示子宫平滑肌瘤样炎性肌纤维母细胞瘤(UL-like IMT)的诊断。ul样IMT极为罕见,仅凭临床表现和形态学极易误诊为平滑肌肿瘤。因此,建议结合组织病理学特征、免疫组织化学标志物和基因检测结果进行诊断,以确保全面准确的评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Uterine leiomyoma-like inflammatory myofibroblastic tumour with a rare ALK::SYN3 fusion: a clinicopathologic and molecular analysis.

Uterine inflammatory myofibroblastic tumour (IMT) is a relatively rare mesenchymal tumour of the uterus, with recurrence and metastasis rates of 25% and 2%, respectively. As IMT frequently harbours ALK gene rearrangements, some patients may benefit from treatment with tyrosine kinase inhibitors, making accurate identification of this tumour essential. Here, we report the case of a 38-year-old female patient with a tumour clinically resembling uterine leiomyoma. Microscopically, the spindled tumour cells were arranged in orderly intersecting fascicles, accompanied by a sparse infiltrate of inflammatory cells and a notable absence of myxoid matrix. Immunohistochemistry and molecular testing revealed an ALK::SYN3 fusion, suggesting the diagnosis of a uterine leiomyoma-like inflammatory myofibroblastic tumour (UL-like IMT). UL-like IMT is exceedingly rare and can easily be misdiagnosed as smooth-muscle tumours based solely on clinical manifestations and morphology. Therefore, it is recommended that the diagnosis be based on a combination of histopathological features, immunohistochemical markers, and genetic testing results to ensure a comprehensive and accurate assessment.

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来源期刊
Diagnostic Pathology
Diagnostic Pathology 医学-病理学
CiteScore
4.60
自引率
0.00%
发文量
93
审稿时长
1 months
期刊介绍: Diagnostic Pathology is an open access, peer-reviewed, online journal that considers research in surgical and clinical pathology, immunology, and biology, with a special focus on cutting-edge approaches in diagnostic pathology and tissue-based therapy. The journal covers all aspects of surgical pathology, including classic diagnostic pathology, prognosis-related diagnosis (tumor stages, prognosis markers, such as MIB-percentage, hormone receptors, etc.), and therapy-related findings. The journal also focuses on the technological aspects of pathology, including molecular biology techniques, morphometry aspects (stereology, DNA analysis, syntactic structure analysis), communication aspects (telecommunication, virtual microscopy, virtual pathology institutions, etc.), and electronic education and quality assurance (for example interactive publication, on-line references with automated updating, etc.).
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