首页 > 期刊杂志 > 正文

Nuclear Expression of CAMTA1 Distinguishes Epithelioid Hemangioendothelioma From Histologic Mimics.

核表达CAMTA1可用于鉴别上皮样血管内皮细胞瘤及组织学类似的肿瘤

Doyle LA,Fletcher CD,Hornick JL

Abstract

Epithelioid hemangioendothelioma (EHE) is a malignant endothelial neoplasm characterized by recurrent translocations involving chromosomal regions 1p36.3 and 3q25, resulting in the formation of a WWTR1-CAMTA1 fusion gene in approximately 90% of cases; a small subset (<5%) have a YAP1-TFE3 fusion gene. The WWTR1-CAMTA1 fusion gene leads to overexpression of both genes. WWTR1 protein is expressed in many different cell types, whereas CAMTA1 expression is normally limited to the brain. A prior study using a polyclonal antibody directed against regions within the C-terminus of CAMTA1 reported widespread expression in both normal tissues and diverse tumor types. In contrast, a recent study using a different polyclonal antibody directed against the C-terminus of CAMTA1 suggested that this other antibody is a potentially useful diagnostic marker for EHE. Our study aimed to validate this finding in a large series of EHE cases and to determine whether CAMTA1 is expressed in other epithelioid mesenchymal tumors that may mimic EHE. Protein expression of CAMTA1 was evaluated in whole-tissue sections of 204 tumors using a polyclonal anti-CAMTA1 antibody: 59 EHE (48 conventional, 11 "malignant"; 4 with known TFE3 gene rearrangement); 70 other epithelioid vascular tumors; and 75 nonendothelial epithelioid mesenchymal neoplasms. In total, 51/59 cases (86%) of EHE showed diffuse nuclear staining for CAMTA1, including 44/48 cases (92%) with conventional histology and 7/11 cases (64%) with "malignant" histology. Of the 8 CAMTA1-negative tumors, 6 were positive for TFE3. With the exception of 1 case previously diagnosed as epithelioid angiosarcoma on core biopsy, all other tumor types examined were negative for CAMTA1. In conclusion, in keeping with the reported frequency of WWTR1-CAMTA1 in EHE, nuclear CAMTA1 expression is identified in the majority of EHE cases, whereas other epithelioid mesenchymal neoplasms are negative for CAMTA1. These findings support the diagnostic utility of immunohistochemistry for CAMTA1 in distinguishing EHE from histologic mimics, in particular benign epithelioid vascular tumors, epithelioid angiosarcoma, and epithelioid sarcoma, an important distinction given the differences in biological potential and clinical course.

摘要

上皮样血管内皮细胞瘤(EHE)是一种血管内皮细胞起源的恶性肿瘤,其特点是染色体1p36.33q25区域多次易位,导致约90%的病例中出现WWTR1-CAMTA1基因融合;少数病例(<5%)出现YAP1-TFE3基因融合。WWTR1-CAMTA1融合基因导致这两种蛋白的过表达。WWTR1蛋白在多种细胞中表达,而CAMTA1通常仅限于脑组织中表达。先前使用针对CAMTA1C末端区域多克隆抗体的研究表明,CAMTA1在正常组织及多种肿瘤中均有表达。但是,最近使用另一种针对CAMTA1C末端区域的多克隆抗体进行研究,结果表明该抗体可能是EHE一种潜在的、有诊断价值的标记物。本文研究目的是在大宗EHE病例中验证这一观点,并且确定CAMTA1是否在其他模拟EHE形态学表现的上皮样间叶细胞肿瘤中表达。全部204例肿瘤的组织切片均使用多克隆抗CAMTA1抗体来观察CAMTA1蛋白的表达情况:59EHE48例传统类型,11恶性4例已知有TFE3基因重排);70例其它类型的上皮样血管源性肿瘤;75例非内皮细胞起源的上皮样间叶细胞肿瘤。结果表明,51/59例(86%)的EHE CAMTA1呈弥漫性核着色,包括44/48 (92%)传统组织学类型和7/11 (64%)组织学表现为恶性EHE8CAMTA1阴性的肿瘤中,6TFE3阳性。除了1例之前在穿刺活检中诊断为上皮样血管肉瘤外,其余所有其它类型的肿瘤CAMTA1均为阴性。总之, EHEWWTR1- CAMTA1 的融合频率与文献报道一致,大多数EHE病例中可见CAMTA1核表达,而其他上皮样间叶细胞肿瘤中CAMTA1阴性。这些结果表明CAMTA1免疫组化在EHE与其类似的肿瘤鉴别中具有重要诊断价值,尤其在良性上皮样血管肿瘤、上皮样血管肉瘤和上皮样肉瘤的鉴别诊断中,因为他们之间重要的差别在于生物学潜能和临床过程不同。

full text

我要评论

0条评论