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POU5F1

MIM.164177 6p21.3

Tuesday 13 July 2004

Oct-4, OCT4, OCT3, OTF4, OTF3

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)
  • OCT4 staining increases the detection of lymphatic/vascular invasion in pure seminoma of the testis obscured by prominent lymphohistiocytic inflammation. (27020494)

- POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors. (12727846)

- Paraganglion cells stain positively for OCT4: a potential pitfall in assessing retroperitoneal lymph node dissection specimens for germ cell tumour metastasis. (23240717)

- Cytoplasmic staining of OCT4 is a highly sensitive marker of adrenal medullary-derived tissue. (23588367)

- OCT4-expressing DLBCL

  • OCT4 and SALL4 are transcription factors within a complex network that functions to maintain pluripotency in primitive stem cells and germ cells.
  • Nuclear expression of OCT4 is widely cited as sensitive and specific for primary and metastatic germ cell tumors and is commonly used in the diagnosis of central nervous system (CNS) germinomas.
  • Nuclear OCT4 expression is present in 2/11 (18%) testicular DLBCLs and 6/134 (4.5%) nontesticular DLBCLs. (27035612)
  • These results are cautionary against using OCT4 as a sole marker of germ cell differentiation in testicular and extratesticular sites, especially in the CNS.
  • The apparent associations of OCT4 expression with primary CNS DLBCL, non-germinal center B-cell phenotype, and CD5 coexpression raise the question of whether OCT4 expression in DLBCL may reflect more aggressive biology.

Open access references

- SALL4 expression in germ cell and non-germ cell tumors: a systematic immunohistochemical study of 3215 cases. Miettinen M, Wang Z, McCue PA, Sarlomo-Rikala M, Rys J, Biernat W, Lasota J, Lee YS. Am J Surg Pathol. 2014 Mar;38(3):410-20. doi : 10.1097/PAS.0000000000000116 PMID: 24525512 (Free)

- 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

- Best practices recommendations in the application of immunohistochemistry in testicular tumors: report from the International Society of Urological Pathology consensus conference. Ulbright TM, Tickoo SK, Berney DM, Srigley JR; Members of the ISUP Immunohistochemistry in Diagnostic Urologic Pathology Group. Am J Surg Pathol. 2014 Aug;38(8):e50-9. doi : 10.1097/PAS.0000000000000233 PMID: 24832161

- Paraganglion cells stain positively for OCT4: a potential pitfall in assessing retroperitoneal lymph node dissection specimens for germ cell tumour metastasis. Clevenger JA, Kum JB, Alexander RE, Grignon DJ, Cheng L, Ulbright TM, Idrees MT. Histopathology. 2013 Jan;62(2):360-3. doi : 10.1111/his.12031 PMID: 23240717

- 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

Paywall References

- Expression of OCT4 and SALL4 in Diffuse Large B-cell Lymphoma: An Analysis of 145 Consecutive Cases and Testicular Lymphomas. Williams AS, Shawwa A, Merrimen J, Dakin Haché K. Am J Surg Pathol. 2016 Mar 31. PMID: 27035612

- Cytoplasmic staining of OCT4 is a highly sensitive marker of adrenal medullary-derived tissue. Alexander RE, Cheng L, Grignon DJ, Idrees M. Am J Surg Pathol. 2013 May;37(5):727-33. doi : 10.1097/PAS.0b013e3182793dc2 PMID: 23588367

- 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

- Screening for intratubular germ cell neoplasia of the testis using OCT4 immunohistochemistry. Jones TD, MacLennan GT, Bonnin JM, Varsegi MF, Blair JE, Cheng L. Am J Surg Pathol. 2006 Nov;30(11):1427-31. PMID: 17063084

- OCT4 immunohistochemistry is superior to placental alkaline phosphatase (PLAP) in the diagnosis of central nervous system germinoma. Hattab EM, Tu PH, Wilson JD, Cheng L. Am J Surg Pathol. 2005 Mar;29(3):368-71. PMID: 15725806

- OCT4: a novel biomarker for dysgerminoma of the ovary. Cheng L, Thomas A, Roth LM, Zheng W, Michael H, Karim FW. Am J Surg Pathol. 2004 Oct;28(10):1341-6. PMID: 15371950

- OCT4 staining in testicular tumors: a sensitive and specific marker for seminoma and embryonal carcinoma. Jones TD, Ulbright TM, Eble JN, Baldridge LA, Cheng L. Am J Surg Pathol. 2004 Jul;28(7):935-40. PMID: 15223965