伴有 YAP1::TFE3 融合的肺部炎性纺锤形细胞 PEC 瘤:两例病例报告及与透明细胞间质瘤的潜在关系。

IF 3.9 2区 医学 Q2 CELL BIOLOGY Histopathology Pub Date : 2024-09-26 DOI:10.1111/his.15328
Naoki Kojima, Shogo Nishino, Yukiko Sasahara, Tetsuro Taki, Hiroki Imada, Tomohiro Miyoshi, Shun-Ichi Watanabe, Genichiro Ishii, Yasushi Yatabe, Taisuke Mori, Akihiko Yoshida
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引用次数: 0

摘要

目的:PEComa 肿瘤家族是由具有骨髓细胞分化的纺锤形/上皮样细胞所定义的。其中一小部分存在 TFE3 融合;但 YAP1::TEE3 尚未见报道。肺透明细胞基质瘤(CCST-L)是一种新出现的实体瘤,其特征为纺锤形至上皮样细胞,伴局灶性细胞质清亮、炎性浸润、无髓样细胞分化和YAP1::TFE3融合。在此,我们报告了两例具有骨髓细胞分化的肺肿瘤,其组织学表现为炎性纺锤形细胞、局灶上皮样透明细胞以及 YAP1::TFE3 融合:患者均为男性,年龄分别为 61 岁和 68 岁。两例患者的肿瘤均为圆形实性肿块,累及肺门。肺叶切除术后,7 个月和 32 个月未见复发。两例肿瘤均由长纺锤形细胞呈storiform至短束状生长,少量上皮样细胞胞质清晰,瘤内存在大量慢性炎症和扩张的血管。其中一个肿瘤有局灶性黑色素沉积。两个肿瘤的 HMB45、Melan A 和 h-caldesmon 免疫组化均呈阳性。荧光原位杂交检测表明存在YAP1::TFE3融合,其中一个病例的RNA测序以及免疫组化TFE3表达和YAP1 C端染色缺失证实了这一点:我们报告了两例肺部炎性纺锤形上皮样细胞瘤,这些肿瘤具有骨髓细胞分化和 YAP1::TFE3 融合。这种独特的形态和基因融合表明,这些肿瘤可能是肺上皮细胞瘤的一个独特亚群。此外,与CCST-L在形态和分子上的重叠使人们产生了PEComa与CCST-L之间可能存在内在联系的假设。
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Inflammatory spindle cell PEComa of the lung with YAP1::TFE3 fusion: a report of two cases and a potential relationship with clear cell stromal tumour.

Aims: The PEComa family of tumours is defined by spindle/epithelioid cells with myomelanocytic differentiation. A small subset harbours TFE3 fusion; however, YAP1::TEE3 has not been reported. Clear cell stromal tumour of the lung (CCST-L) is an emerging entity characterized by spindle to epithelioid cells with focal cytoplasmic clearing, inflammatory infiltrates, no myomelanocytic differentiation, and YAP1::TFE3 fusion. Herein, we report two cases of lung tumours with myomelanocytic differentiation that showed inflammatory spindle cell histology, focal epithelioid clear cells, as well as YAP1::TFE3 fusion.

Methods and results: The patients were both men, aged 61 and 68 years. The tumours in both cases presented as well-circumscribed solid masses involving the lung hilum. After lobectomy, no recurrence was observed at 7 and 32 months. Both tumours shared storiform to short fascicular growth of long spindle cells, with a minor component of epithelioid cells showing clear cytoplasm in the background of substantial intratumoral chronic inflammation and dilated blood vessels. One tumour showed focal melanin deposition. Both tumours were immunohistochemically positive for HMB45, Melan A, and h-caldesmon. Fluorescence in situ hybridization assays indicated the presence of YAP1::TFE3 fusions, which was confirmed by RNA sequencing in one case tested, and by immunohistochemical TFE3 expression and loss of YAP1 C-terminus staining.

Conclusion: We present two cases of inflammatory spindle to epithelioid cell tumours of the lungs with myomelanocytic differentiation and YAP1::TFE3 fusion. This unique morphology and gene fusion suggest that these tumours may constitute a distinct subset of lung PEComa. Furthermore, morphological and molecular overlap with CCST-L gives rise to a hypothesis of a potential inherent relationship between PEComa and CCST-L.

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来源期刊
Histopathology
Histopathology 医学-病理学
CiteScore
10.20
自引率
4.70%
发文量
239
审稿时长
1 months
期刊介绍: Histopathology is an international journal intended to be of practical value to surgical and diagnostic histopathologists, and to investigators of human disease who employ histopathological methods. Our primary purpose is to publish advances in pathology, in particular those applicable to clinical practice and contributing to the better understanding of human disease.
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