Diagnostic utility of SALL4 in primary germ cell tumors of the central nervous system: A study of 77 cases

Kaiyong Mei, Aijun Liu, Robert W. Allan, Peng Wang, Zhaoli Lane, Ty W. Abel, Lixin Wei, Hong Cheng, Shuangping Guo, Yan Peng, Dinesh Rakheja, Min Wang, Joe Ma, Maria M. Rodriguez, Jianping Li, Dengfeng Cao

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75 Scopus citations


Primary germ cell tumors of the central nervous system (CNS) sometimes pose diagnostic difficulty. In this study we analyzed the diagnostic utility of a novel marker, SALL4, in 77 such tumors (59 pure and 18 mixed) consisting of the following tumors/tumor components: 49 germinomas, 7 embryonal carcinomas, 27 yolk sac tumors, 3 choriocarcinomas, and 14 teratomas. We also stained SALL4 in 99 primary non-germ cell tumors to test SALL4 specificity. We compared SALL4 with OCT4 in all germ cell tumors and compared SALL4 with α-fetoprotein and glypican-3 in all yolk sac tumors. The staining was semiquantitatively scored as 0 (no staining), 1 (30%), 2(31-60%), 3 (61-90%), and 4 (90%). Strong SALL4 staining was observed in all 49 germinomas (4 in 48, 3 in 1), 7 embryonal carcinomas (all 4), and 27 yolk sac tumors (1 in 1, 2 in 2, 3 in 7, 4 in 17). SALL4 staining, 1 weak to focally strong, was observed in 2 of 3 choriocarcinomas (in mononucleated trophoblasts) and in 9 of 14 teratomas (in primitive neuroepithelium and teratomatous glands). All germinomas and embryonal carcinomas showed strong OCT4 staining (4 in all except 1 germinoma with 3), whereas other germ cell tumors were negative. Out of 27 yolk sac tumors, 26 showed positive α-fetoprotein staining (1 in 9, 2 in 7, 3 in 5, and 4 in 5). All yolk sac tumors showed positive glypican-3 staining (1 in 6, 2 in 6, 3 in 7, and 4 in 8). The mean percentage of yolk sac tumor cells stained was 84% with SALL4, 45% with α-fetoprotein, and 63% with glypican-3 (P0.01). No non-germ cell tumors showed SALL4 staining. Our results indicate that SALL4 is a novel sensitive diagnostic marker for primary germ cell tumors of the CNS with high specificity. SALL4 is a more sensitive marker than α-fetoprotein and glypican-3 for yolk sac tumors.

Original languageEnglish (US)
Pages (from-to)1628-1636
Number of pages9
JournalModern Pathology
Issue number12
StatePublished - Dec 2009


  • Central nervous system
  • Diagnostic marker
  • Germ cell tumors
  • SALL4

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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