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TFE3重排的肝脏上皮样血管内皮瘤——一例免疫组化及分子研究病例报告

TFE3-rearranged hepatic epithelioid hemangioendothelioma-a case report with immunohistochemical and molecular study.

作者信息

Kuo Fang-Ying, Huang Hsuan-Ying, Chen Chao-Long, Eng Hock-Liew, Huang Chao-Cheng

机构信息

Department of Pathology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.

Department of Surgery, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.

出版信息

APMIS. 2017 Sep;125(9):849-853. doi: 10.1111/apm.12716. Epub 2017 Jun 6.

Abstract

A recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1-negative epithelioid hemangioendotheliomas arising in soft tissue, bone, and lung, but not in liver. We present the first case of TFE3-rearranged hepatic epithelioid hemangioendothelioma in a 39-year-old Taiwanese woman. Computed tomography scan revealed multifocal, ill-defined nodules involving both hepatic lobes. She then underwent deceased donor liver transplantation. Histologically, the tumors in the liver explant showed a biphasic growth pattern. One component was composed of dilated and well-formed blood vessels lined by epithelioid cells with abundant eosinophilic cytoplasm, mimicking an alveolar pattern, whereas the other component was composed of cords and single cells, featuring intracytoplasmic vacuoles, separated by a myxoid stroma. The tumor cells showed vesicular nuclei and small indistinct nucleoli with mild to moderate cytologic atypia. Most tumor cells showed factor VIII, CD34, CD31, and TFE3 positivity in immunohistochemical study. Fluorescence in situ hybridization analysis for the tumor cells exhibited TFE3 gene rearrangement. The patient is currently alive, and no post-operative tumor recurrence developed during a 13-year follow-up. Awareness of this rare vasoformative variant and identification of the gene rearrangement would be helpful on differential diagnosis with other high-grade carcinoma and angiosarcoma of liver.

摘要

在软组织、骨骼和肺部发生的WWTR1-CAMTA1阴性上皮样血管内皮瘤中已鉴定出复发性YAP1-TFE3基因融合,但在肝脏中未发现。我们报告了首例TFE3重排的肝上皮样血管内皮瘤,患者为一名39岁的台湾女性。计算机断层扫描显示双侧肝叶有多灶性、边界不清的结节。随后她接受了已故供体肝移植。组织学上,肝外植体中的肿瘤呈现双相生长模式。一个成分由扩张且形态良好的血管组成,血管内衬有具有丰富嗜酸性细胞质的上皮样细胞,类似肺泡模式,而另一个成分由条索状和单个细胞组成,具有胞质内空泡,被黏液样基质分隔。肿瘤细胞显示核呈泡状,核仁小且不明显,具有轻度至中度细胞学异型性。免疫组化研究显示大多数肿瘤细胞呈因子VIII、CD34、CD31和TFE3阳性。对肿瘤细胞进行荧光原位杂交分析显示TFE3基因重排。该患者目前仍然存活,在13年的随访期间未出现术后肿瘤复发。认识到这种罕见的血管形成变异型并鉴定基因重排有助于与肝脏其他高级别癌和血管肉瘤进行鉴别诊断。

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