Omatsu Ikoi, Mukai Hiroki, Doi Toshifumi, Ishikawa Takeshi, Itoh Yoshito, Konishi Eiichi, Shishido-Hara Yukiko
Department of Anatomic Pathology, Kyoto Prefectural University of Medicine, Japan.
Department of Molecular Gastroenterology and Hepatology, Kyoto Prefectural University of Medicine, Japan.
Cardiovasc Pathol. 2025 Mar-Apr;75:107715. doi: 10.1016/j.carpath.2025.107715. Epub 2025 Jan 8.
A rare autopsy case of malignant transcription factor E3 (TFE3)-rearranged perivascular epithelioid cell tumor (PEComa)-like neoplasm is presented. An 84-year-old woman manifested multiple cerebral infarctions and repetitive embolic events in the supra mesenchymal artery (SMA), and the presence of a mobile mass in the heart's left ventricle was also revealed. Tumoral lesions were also found in a pelvic space and a right pleural cavity, and a biopsy was performed from one of the disseminated tumor masses in the right pleura. Pathological diagnosis of TFE3-rearranged PEComa-like neoplasm was defined based on the evidence of partial expression of Melan A, and strong nuclear expression of TFE3 and by detection of the Xp11.2 locus split signal with FISH. A post-mortem analysis via autopsy revealed the widespread intravascular tumors in the heart's left ventricle, supra mesenchymal vein (SMV), and partial vein. The left intraventricular tumoral mass was associated with thrombus and fibrine, and thrombotic emboli were also found in SMA, SMV, and left pulmonary arteries. Interestingly, organ-based tumor invasion accompanying desmoplastic reactions was hardly seen. The small intestine was perforated, likely due to ischemia, which resulted in suppurative peritonitis and sepsis. This was thought of as the direct cause of death. This is the first report of a precise autopsy investigation of TFE3-rearranged PEComa-like neoplasm. Tumoral localization was mostly intravascular or disseminative in the pleural cavity. Given the limited understanding of this tumoral pathophysiology, this case offers valuable insights for prompt diagnosis and effective treatment strategies.
本文报告一例罕见的恶性转录因子E3（TFE3）重排的血管周上皮样细胞瘤（PEComa）样肿瘤的尸检病例。一名84岁女性表现为多发性脑梗死和肠系膜上动脉（SMA）反复出现栓塞事件，同时还发现左心室有一个可移动的肿块。盆腔间隙和右胸腔也发现了肿瘤病变，并对右胸膜中一个播散性肿瘤肿块进行了活检。基于Melan A部分表达、TFE3强核表达以及通过荧光原位杂交（FISH）检测到Xp11.2位点分裂信号，对TFE3重排的PEComa样肿瘤进行了病理诊断。尸检分析显示，心脏左心室、肠系膜上静脉（SMV）和部分静脉广泛存在血管内肿瘤。左心室内肿瘤肿块与血栓和纤维蛋白有关，在SMA、SMV和左肺动脉中也发现了血栓性栓子。有趣的是，几乎未见伴有促纤维增生反应的器官浸润性肿瘤。小肠穿孔，可能是由于缺血，导致化脓性腹膜炎和败血症。这被认为是直接死因。这是首例对TFE3重排的PEComa样肿瘤进行精确尸检研究的报告。肿瘤定位主要在血管内或胸腔内播散。鉴于对这种肿瘤病理生理学的了解有限，该病例为及时诊断和有效的治疗策略提供了有价值的见解。
