Xiao Guang-Qian, Li Faqian, Unger Pamela D, Katerji Hani, Yang Qi, McMahon Loralee, Burstein David E
Department of Pathology, University of Rochester Medical Center, Rochester, NY, USA.
Department of Pathology, University of Minnesota, Twin Cities, MN, USA.
Mod Pathol. 2016 Jun;29(6):591-8. doi: 10.1038/modpathol.2016.46. Epub 2016 Feb 26.
Although the function of zinc finger and BTB domain containing 16 (ZBTB16) in spermatogenesis is well documented, expression of ZBTB16 in germ cell tumors has not yet been studied. The aim of this study was to investigate the immunohistochemical expression and diagnostic utility of ZBTB16 in germ cell tumors. A total of 67 adult germ cell tumors were studied (62 testicular germ cell tumors, 2 ovarian yolk sac tumors, 1 mediastinal yolk sac tumor, and 2 retroperitoneal metastatic yolk sac tumors). The 62 testicular primary germ cell tumors are as follows: 34 pure germ cell tumors (20 seminomas, 8 embryonal carcinomas, 2 teratomas, 1 choriocarcinoma, 1 carcinoid, and 2 spermatocytic tumors) and 28 mixed germ cell tumors (composed of 13 embryonal carcinomas, 15 yolk sac tumors, 15 teratomas, 7 seminomas, and 3 choriocarcinomas in various combinations). Thirty-five cases contained germ cell neoplasia in situ. Yolk sac tumor was consistently reactive for ZBTB16. Among the 15 testicular yolk sac tumors in mixed germ cell tumors, all displayed moderate to diffuse ZBTB16 staining. ZBTB16 reactivity was present regardless of the histologic patterns of yolk sac tumor and ZBTB16 was able to pick up small foci of yolk sac tumor intermixed/embedded in other germ cell tumor subtype elements. Diffuse ZBTB16 immunoreactivity was also observed in 2/2 metastatic yolk sac tumors, 1/1 mediastinal yolk sac tumor, 2/2 ovarian yolk sac tumors, 2/2 spermatocytic tumors, 1/1 carcinoid, and the spermatogonial cells. All the other non-yolk sac germ cell tumors were nonreactive, including seminoma (n=27), embryonal carcinoma (n=21), teratoma (n=17), choriocarcinoma (n=4), and germ cell neoplasia in situ (n=35). The sensitivity and specificity of ZBTB16 in detecting yolk sac tumor among the germ cell tumors was 100% (20/20) and 96% (66/69), respectively. In conclusion, ZBTB16 is a highly sensitive and specific marker for yolk sac tumor.
尽管含锌指和BTB结构域蛋白16（ZBTB16）在精子发生中的功能已有充分记载，但ZBTB16在生殖细胞肿瘤中的表达尚未见研究报道。本研究旨在探讨ZBTB16在生殖细胞肿瘤中的免疫组化表达及诊断效用。共研究了67例成人生殖细胞肿瘤（62例睾丸生殖细胞肿瘤、2例卵巢卵黄囊瘤、1例纵隔卵黄囊瘤和2例腹膜后转移性卵黄囊瘤）。62例睾丸原发性生殖细胞肿瘤如下：34例纯生殖细胞肿瘤（20例精原细胞瘤、8例胚胎性癌、2例畸胎瘤、1例绒毛膜癌、1例类癌和2例精母细胞瘤）和28例混合性生殖细胞肿瘤（由13例胚胎性癌、15例卵黄囊瘤、15例畸胎瘤、7例精原细胞瘤和3例绒毛膜癌以各种组合构成）。35例含有原位生殖细胞肿瘤形成。卵黄囊瘤对ZBTB16始终呈阳性反应。在混合性生殖细胞肿瘤中的15例睾丸卵黄囊瘤中，均显示中度至弥漫性ZBTB16染色。无论卵黄囊瘤的组织学模式如何，ZBTB16均呈阳性反应，且ZBTB16能够检测到混合/嵌入其他生殖细胞肿瘤亚型成分中的小灶性卵黄囊瘤。在2/2例转移性卵黄囊瘤、1/1例纵隔卵黄囊瘤、2/2例卵巢卵黄囊瘤、2/2例精母细胞瘤、1/1例类癌及精原细胞中也观察到弥漫性ZBTB16免疫反应性。所有其他非卵黄囊生殖细胞肿瘤均为阴性反应，包括精原细胞瘤（n = 27）、胚胎性癌（n = 21）、畸胎瘤（n = 17）、绒毛膜癌（n = 4）和原位生殖细胞肿瘤形成（n = 35）。ZBTB16在生殖细胞肿瘤中检测卵黄囊瘤的敏感性和特异性分别为100%（20/20）和96%（66/69）。总之，ZBTB16是卵黄囊瘤的一种高度敏感和特异的标志物。
