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Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 6 December 2011, last major update December 2011
Copyright: (c) 2002-2011, PathologyOutlines.com, Inc.


● Transcription factor at 3q26.33, essential to maintain self-renewal of undifferentiated embryonic stem cells
● Also known as SRY (sex determining region Y)-box 2 is a transcription factor that is essential to maintain self-renewal of undifferentiated embryonic stem cells
● Marker of embryonic stem cell pluripotency that is associated with aggressive tumor behavior

Clinical features

● Gene is amplified and protein overexpressed variably in squamous cell carcinomas of various sites (Hum Pathol 2011;42:1078, Hum Pathol 2009;40:1768)

Uses by Pathologists

● Distinguish seminomatous (SOX2+) and nonseminomatous (SOX2-) germ cell tumors (Am J Surg Pathol 2007;31:836)
● Poor prognostic factor for stage I lung adenocarcinoma (Am J Surg Pathol 2010;34:1193)

Micro images

Fetal brain

Left: embryonal/fetal skin, right: adult skin

Breast carcinoma: various

CNS immature (left) and mature (right) teratomas

Lung adenocarcinoma

Skin tumors - left: Merkel cell carcinoma, right: melanoma

Squamous cell carcinoma

Testicular mixed germ cell tumors

Positive staining - disease

● CNS tumors: glial tumors, supratentorial PNET, but not medulloblastoma or pineoblastoma (Am J Surg Pathol 2008;32:103)
● Embryonal carcinoma of mediastinum (Am J Surg Pathol 2010;34:697) and testis (Am J Clin Pathol 2009;131:731)
● Variable: malignant rhabdoid tumor (Am J Surg Pathol 2011;35:1463), teratoma

Negative staining

● Choriocarcinoma (testis), seminoma (mediastinum, testis), yolk sac tumors (mediastinum, testis)
● CNS germinoma (Am J Surg Pathol 2006;30:1613), lymphoma

End of Stains > SOX2

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