肝上皮样血管内皮瘤的病理诊断和治疗进展

摘要/Abstract

摘要： 肝上皮样血管内皮瘤（hepatic epithelioid hemangioendothelioma,HEHE）是一种罕见的血管内皮细胞肿瘤,由黏液或纤维化基质中的上皮样和组织细胞样血管内皮细胞组成,低至中度恶性。HEHE的病因尚不清楚,大体上分为单发型、多发型和弥漫型3种类型,其中多发型最为常见。超声、磁共振成像和计算机断层扫描等影像诊断方法均没有特异性,其诊断主要依赖于组织病理以及免疫组织化学染色,免疫组织化学抗体包括血管内皮标志物CD31、CD34、CD10、D2-40、ERG、FLI-1及Ⅷ因子和上皮标志物CK8/18、EMA等。分子生物学改变主要存在WWTR1-CAMTA1 融合基因,少部分存在YAP1-TFE3 融合基因,免疫组织化学CAMTA1中85%~90%显示阳性,可以应用荧光原位杂交(fluorescence in situ hybridization,FISH）进行检测诊断。肝切除术或肝移植是目前治疗HEHE的首选方法。

关键词: 上皮样血管内皮瘤, 肝脏, 病理诊断, 治疗

Abstract: Hepatic epithelioid hemangioendothelioma(HEHE) is a rare vascular endothelial cell tumor, composed of epithelioid and histiocyte-like vascular endothelial cells in mucus or fibrotic stroma, and is low to moderately malignant. The etiology of HEHE is unclear. It can be characterized as single, multiple, or diffuse, and the multifocal form is most common. There is no specificity in imaging diagnosis including ultrasound, MRI, and CT. The diagnosis mainly depends on histopathology and immunohistochemical staining. Immunohistochemical antibodies include vascular endothelial markers CD31, CD34, CD10, D2-40, ERG, FLI-1, factorⅧ etc, and epithelial markers CD8/18, EMA, etc. Changes in molecular biology mainly include the WWTR1-CAMTA1 fusion gene, and a small number of YAP1-TFE3 fusion genes can be detected and diagnosed by FISH. Liver resection and liver transplantation are the preferred treatment methods for HEHE.

Key words: Epithelioid hemangioendothelioma, Liver, Pathological diagnosis, Treatment

梁逸庭, 石素胜. 肝上皮样血管内皮瘤的病理诊断和治疗进展[J]. 肝癌电子杂志, 2021, 8(2): 53-56.

Liang Yiting, Shi Susheng. Pathological diagnosis and treatment progress of hepatic epithelioid hemangioendothelioma[J]. Electronic Journal of Liver Tumor, 2021, 8(2): 53-56.

参考文献

[1] WEISS S W, ENZINGER F M.Epithelioid hemangioendothelioma: a vascular tumor often mistaken for a carcinoma[J]. Cancer, 1982, 50(5): 970-981.
[2] LAU K, MASSAD M, POLLAK C, et al.Clinical patterns and outcome in epithelioid hemangioendothelioma with or without pulmonary involvement: insights from an internet registry in the study of a rare cancer[J]. Chest, 2011, 140(5): 1312-1318.
[3] ROSENBAUM E, JADEJA B, XU B, et al.Prognostic stratification of clinical and molecular epithelioid hemangioendothelioma subsets[J]. Mod Pathol, 2020, 33(4): 591-602.
[4] MEHRABI A, KASHFI A, FONOUNI H, et al.Primary malignant hepatic epithelioid hemangioendothelioma: a comprehensive review of the literature with emphasis on the surgical therapy[J]. Cancer, 2006, 107(9): 2108-2121.
[5] ANTONESCU C. Malignant vascular tumors--an update[J]. Mod Pathol, 2014, 27 Suppl 1: S30-38.
[6] MAMONE G, MIRAGLIA R.The “Target sign” and the “Lollipop sign” in hepatic epithelioid hemangioendothelioma[J]. Abdom Radiol (NY), 2019, 44(4): 1617-1620.
[7] GURUNG S, FU H, ZHANG W W, et al.Hepatic epithelioid hemangioendothelioma metastasized to the peritoneum, omentum and mesentery: a case report[J]. Int J Clin Exp Pathol, 2015, 8(5): 5883-5889.
[8] ZHOU L, CUI M Y, XIONG J, et al.Spectrum of appearances on CT and MRI of hepatic epithelioid hemangioendothelioma[J]. BMC Gastroenterol, 2015, 15: 69.
[9] YANG JW, LI Y, XIE K, et al.Spontaneous rupture of hepatic epithelioid hemangioendothelioma: A case report[J]. World J Gastroenterol. 2017, 23(1): 185-190.
[10] AFRIT M, NASRI M, LABIDI S, et al.Aggressive primary hepatic epithelioid hemangioendothelioma: a case report and literature review[J]. Cancer Biol Med, 2017, 14(2): 187-190.
[11] MAKHLOUF H R, ISHAK K G, GOODMAN Z D.Epithelioid hemangioendothelioma of the liver: a clinicopathologic study of 137 cases[J]. Cancer, 1999, 85(3): 562-582.
[12] REMISZEWSKI P, SZCZERBA E, KALINOWSKI P, et al.Epithelioid hemangioendothelioma of the liver as a rare indication for liver transplantation[J]. World J Gastroenterol. 2014, 20(32): 11333-11339.
[13] DEYRUP A T, TIGHIOUART M, MONTAG A G, et al.Epithelioid hemangioendothelioma of soft tissue: a proposal for risk stratification based on 49 cases[J]. Am J Surg Pathol, 2008, 32(6): 924-927.
[14] FUJII T, ZEN Y, SATO Y, et al.Podoplanin is a useful diagnostic marker for epithelioid hemangioendothelioma of the liver[J]. Mod Pathol, 2008, 21(2): 125-130.
[15] FLUCKE U, VOGELS R J C, DE SAINT AUBAIN SOMERHAUSEN N, et al. Epithelioid Hemangioendothelioma: clinicopathologic, immunhistochemical, and molecular genetic analysis of 39 cases[J]. Diagn Pathol, 2014, 9: 131.
[16] DOYLE L A, FLETCHER C D M, HORNICK J L. Nuclear Expression of CAMTA1 Distinguishes Epithelioid Hemangioendothelioma From Histologic Mimics[J]. Am J Surg Pathol, 2016, 40(1): 94-102.
[17] ERRANI C, ZHANG L, SUNG Y S, et al.A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites[J]. Genes Chromosomes Cancer, 2011, 50(8): 644-653.
[18] ANTONESCU C R, LE LOARER F, MOSQUERA J-M, et al.Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma[J]. Genes Chromosomes Cancer, 2013, 52(8): 775-784.
[19] KUO F Y, HUANG H Y, CHEN C L, et al.TFE3-rearranged hepatic epithelioid hemangioendothelioma-a case report with immunohistochemical and molecular study[J]. APMIS: 2017, 125(9): 849-853.
[20] MOGLER C, KOSCHNY R, HEILIG C E, et al.Molecular characterization of hepatic epithelioid hemangioendothelioma reveals alterations in various genes involved in DNA repair, epigenetic regulation, signaling pathways, and cell cycle control[J]. Genes Chromosomes Cancer, 2020, 59(2): 106-110.
[21] PANSE G, CHRISINGER J S, LEUNG C H, et al.Clinicopathological analysis of ATRX, DAXX and NOTCH receptor expression in angiosarcomas[J]. Histopathology, 2018, 72(2): 239-247.
[22] DEMETRIS A J, MINERVINI M, RAIKOW R B, et al.Hepatic epithelioid hemangioendothelioma: biological questions based on pattern of recurrence in an allograft and tumor immunophenotype[J]. Am J Surg Pathol, 1997, 21(3): 263-270.
[23] EMAMAULLEE J A, NOWAK K, BEACH M, et al.Hepatic Epithelioid Hemangioendothelioma Presenting as an Enlarging Vascular Lesion within the Spleen[J]. Case Rep Transplant, 2018, 2018: 3948784.
[24] GAN L U, CHANG R, JIN H, et al.Typical CT and MRI signs of hepatic epithelioid hemangioendothelioma[J]. Oncol Lett, 2016, 11(3): 1699-1706.
[25] LLUECA A, PIQUER D, MAAZOUZI Y, et al.Hepatic epithelioid hemangioendothelioma: A great mimicker[J]. International Journal of Surgery Case Reports, 2018, 53: 25-28.
[26] JUNG D H, HWANG S, HONG S M, et al.Clinicopathological Features and Prognosis of Hepatic Epithelioid Hemangioendothelioma After Liver Resection and Transplantation[J]. Ann Transplant, 2016, 21: 784-790.
[27] LAI Q, FEYS E, KARAM V, et al.Hepatic Epithelioid Hemangioendothelioma and Adult Liver Transplantation: Proposal for a Prognostic Score Based on the Analysis of the ELTR-ELITA Registry[J]. Transplantation, 2017, 101(3): 555-564.