Specificity of brachyury in the distinction of chordoma from clear cell renal cell carcinoma and germ cell tumors: a study of 305 cases
Specificity of brachyury in the distinction of chordoma from clear cell renal cell carcinoma and germ cell tumors: a study of 305 cases
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Brachyury 区分脊索瘤、透明细胞肾细胞癌和生殖细胞肿瘤的特异性：305 例病例的研究
DOI：
10.1038/modpathol.2010.196
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发表时间：
2011
期刊：
影响因子：
7.5
通讯作者：
J. McKenney
中科院分区：
文献类型：
--
作者：
A. Sangoi;J. Karamchandani;B. Lane;J. Higgins;R. Rouse;J. Brooks;J. McKenney
短尾畸形被认为是脊索源性组织和肿瘤的特异性标志物，并已成为脉络膜炎的定义性免疫组织化学特征。主要的鉴别诊断考虑脉络膜是软骨肉瘤，这是已知缺乏短尾表达。然而，在泌尿生殖系统肿瘤的范围内，转移性生殖细胞肿瘤和透明细胞肾细胞癌也可能是脉络膜的形态学模拟物，特别是考虑到来自图像引导活检的小组织样本的流行率越来越高。尽管在少数生殖细胞肿瘤中报告了短尾畸形的免疫反应性，但尚未在大系列中进行特定亚型染色的彻底表征。此外，短尾畸形在肾透明细胞癌中的表达尚未得到充分研究。在这项研究中，免疫组化表达与brachyury抗体进行了评估，在111生殖细胞肿瘤，30个非肿瘤性和肿瘤性（非生殖细胞）睾丸组织，和184转移性透明细胞肾细胞癌，使用组织芯片技术。此外，PAX-8和萨尔-4的免疫反应性进行了评估，在12个脊索瘤的整个切片。在组织微阵列中的101个生殖细胞肿瘤中没有发现核短尾畸形表达（包括绒毛膜癌（1）、胚胎癌（20）、未分类的小管内生殖细胞瘤（2）、精母细胞瘤（64）、精母细胞瘤（1）、畸胎瘤（5）和卵黄囊瘤（8）），30个非肿瘤性和肿瘤性（非生殖细胞）睾丸组织中的任何一个，或10个全切片精原细胞瘤中的任何一个。所有184例转移性透明细胞肾细胞癌也对短尾无反应。所有12例脊索瘤均呈短尾型强核免疫反应性，但萨尔-4无表达。总之，12例脉络膜炎病例中有1例显示PAX-8斑片状、1+核免疫反应性。这项研究证实了短尾畸形在与潜在的泌尿生殖系统拟态、生殖细胞肿瘤和转移性肾透明细胞癌的鉴别诊断中的特异性。
Brachyury is recognized as a specific marker for notochord-derived tissues and neoplasms, and has become a defining immunohistochemical feature of chordoma. The main differential diagnostic consideration for chordoma is chondrosarcoma, which is known to lack brachyury expression. However, within the spectrum of genitourinary neoplasia, metastatic germ cell tumors and clear cell renal cell carcinoma may also be close morphological mimics of chordoma, particularly given the increasing prevalence of small tissue samples from image-guided biopsies. Although immunoreactivity for brachyury has been reported in a few germ cell tumors, a thorough characterization of staining by specific subtype has not been performed in a large series. Additionally, brachyury expression in clear cell renal cell carcinoma has not been well studied. In this study, immunohistochemical expression with the brachyury antibody was evaluated in 111 germ cell tumors, 30 non-neoplastic and neoplastic (non-germ cell) testicular tissues, and 184 metastatic clear cell renal cell carcinomas using tissue microarray technology. In addition, immunoreactivity for PAX-8 and SALL-4 was evaluated in 12 chordomas on whole section. No nuclear brachyury expression was identified in any of the 101 germ cell tumors within the tissue microarray (including choriocarcinoma (1), embryonal carcinoma (20), intratubular germ cell neoplasia unclassified (2), seminoma (64), spermatocytic seminoma (1), teratoma (5) and yolk sac tumor (8)), in any of the 30 non-neoplastic and neoplastic (non-germ cell) testicular tissues, or in any of the 10 whole-section seminomas. All 184 metastatic clear cell renal cell carcinomas were also non-reactive for brachyury. All 12 chordomas showed strong nuclear immunoreactivity for brachyury, but no expression of SALL-4. In all, 1 of 12 chordoma cases showed patchy, 1+ nuclear immunoreactivity for PAX-8. This study confirms the specificity of brachyury for chordoma in the differential diagnostic distinction from the potential genitourinary mimics, germ cell tumors and metastatic clear cell renal cell carcinoma.