POU5F1
MIM.164177 6p21.3
Definition: OCT4 (POU5F1) is a transcription factor involved in the regulation of pluripotency during embryonic development. It can be detected in both pluripotent cells and other early germ cells.
Transcription factors containing the POU homeodomain (POUs) have been shown to be important regulators of tissue-specific gene expression in lymphoid and pituitary differentiation and in early mammalian development.
OCT4 (POU5F1) is a transcription factor expressed in embryonic stem and germ cells and is involved in the regulation and maintenance of pluripotency. It has been detected in primary testicular germ cell tumors with pluripotent potential, seminoma, and embryonal carcinoma.
Pathology
EWSR1/POU5F1 fusion gene by t(6;22)(p21;q12) translocation in Ewing Family Tumors (EFTs) (#17564582#)
- It joins EWSR1 at 22q12 and POU5F1 (Oct-4) at 6p21.
- The t(6;22)(p21;q12) translocation associated with human bone and soft-tissue tumors results in a chimeric molecule fusing the amino terminal domain (NTD) of the EWS gene to the carboxy terminal domain (CTD) of the Oct-4 embryonic gene (POU5F1).
- The fusion of the EWS amino terminal domain to the Oct-4 DNA binding domain produces a transforming chimeric product.
Immunostaining
OCT4 is a sensitive and specific marker for seminoma and embryonal carcinoma. (#15223965#)
- Immunostaining with antibodies to OCT4 is a useful diagnostic tool in the identification of primary testicular embryonal carcinomas and "usual," but not spermatocytic, seminomas. (#15223965#)
- OCT4 immunostaining has comparable sensitivity but greater consistency compared with CD30 in the diagnosis of embryonal carcinoma. (#15223965#)
- POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors. (#12727846#)
Open access references
POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors. Looijenga LH, Stoop H, de Leeuw HP, de Gouveia Brazao CA, Gillis AJ, van Roozendaal KE, van Zoelen EJ, Weber RF, Wolffenbuttel KP, van Dekken H, Honecker F, Bokemeyer C, Perlman EJ, Schneider DT, Kononen J, Sauter G, Oosterhuis JW. Cancer Res. 2003 May 1;63(9):2244-50. PMID: #12727846# [Free]
Reviews
Lee J, Kim JY, Kang IY, Kim HK, Han YM, Kim J. The EWS-Oct-4 fusion gene encodes a transforming gene. Biochem J. 2007 Jun 12; PMID: #17564582#
Yamaguchi S, Yamazaki Y, Ishikawa Y, Kawaguchi N, Mukai H, Nakamura T. EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12). Genes Chromosomes Cancer. 2005 Jun;43(2):217-22. PMID: #15729702#
Cheng L, Thomas A, Roth LM, Zheng W, Michael H, Karim FW. OCT4: a novel biomarker for dysgerminoma of the ovary. Am J Surg Pathol. 2004 Oct;28(10):1341-6. PMID: #15371950#
Jones TD, Ulbright TM, Eble JN, Baldridge LA, Cheng L. OCT4 staining in testicular tumors: a sensitive and specific marker for seminoma and embryonal carcinoma. Am J Surg Pathol. 2004 Jul;28(7):935-40. PMID: #15223965#
Hattab EM, Tu PH, Wilson JD, Cheng L. OCT4 immunohistochemistry is superior to placental alkaline phosphatase (PLAP) in the diagnosis of central nervous system germinoma. Am J Surg Pathol. 2005 Mar;29(3):368-71. PMID: #15725806#
References
Diagnostic Utility of Novel Stem Cell Markers SALL4, OCT4, NANOG, SOX2, UTF1, and TCL1 in Primary Mediastinal Germ Cell Tumors. Liu A, Cheng L, Du J, Peng Y, Allan RW, Wei L, Li J, Cao D. Am J Surg Pathol. 2010 May;34(5):697-706. PMID: #20410807#
An Oct4-centered protein interaction network in embryonic stem cells. van den Berg DL, Snoek T, Mullin NP, Yates A, Bezstarosti K, Demmers J, Chambers I, Poot RA. Cell Stem Cell. 2010 Apr 2;6(4):369-81. PMID: #20362541##
OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome. Bianco B, Oliveira KC, Guedes AD, Barbosa CP, Lipay MV, Verreschi IT. Fertil Steril. 2010 Mar 26. PMID: #20347080#
OCT4: biological functions and clinical applications as a marker of germ cell neoplasia. Cheng L, Sung MT, Cossu-Rocca P, Jones TD, MacLennan GT, De Jong J, Lopez-Beltran A, Montironi R, Looijenga LH. J Pathol. 2007 Jan;211(1):1-9. Review. PMID: #17117392#