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SOX2

MIM.184429 3q26.3-q27

Friday 13 May 2005

Definition: Sox2 is a marker of embryonic stem cell pluripotency. The transcription factor SOX2 plays an important role in tissue development and differentiation.

Pathology

- SOX2 germline mutations in

  • microphtalmia
  • anophtalmia

- SOX2 has been shown to potentiate tumor invasion.

- Increased SOX2 immunoreactivity has been demonstrated in a variety of epithelial and nonepithelial malignancies often correlating with adverse prognosis.

- Cervical Intraepithelial Neoplasia Grade 3 (CIN3)

  • CIN3 showed increased SOX2 expression compared with normal epithelium, particularly in areas of endocervical crypt involvement and adjacent to superficially invasive SCC. (26886477)
  • Most invasive tumor cells were unstained suggesting downregulation of SOX2 during the initial stages of the invasive process. (26886477)
  • Progression of cervical squamous neoplasia may involve cyclical alterations in SOX2 activity.

- SOX2 controls tumour initiation and cancer stem-cell functions in squamous-cell carcinoma. (24909994)

- pulmonary adenocarcinoma

  • SOX2 is associated with aggressive tumor behavior and is expressed in a subset of lung adenocarcinomas. (20631605)
  • Sox2 seems to be an independent predictor of poor outcome in stage I lung adenocarcinomas and may help stratify patients at increased risk for recurrence. (20631605)
  • Many patients with stage I non-small cell lung carcinoma will develop recurrence after surgical excision. (20631605)

See also

- SOXs
- OCT4, SOX2, NANOG
- OCT4 /SOX2 /NANOG

Open References

- Sox2 protein expression is an independent poor prognostic indicator in stage I lung adenocarcinoma. Sholl LM, Barletta JA, Yeap BY, Chirieac LR, Hornick JL. Am J Surg Pathol. 2010 Aug;34(8):1193-8. PMID: 20631605

References

- SOX2 controls tumour initiation and cancer stem-cell functions in squamous-cell carcinoma. Boumahdi S, Driessens G, Lapouge G, Rorive S, Nassar D, Le Mercier M, Delatte B, Caauwe A, Lenglez S, Nkusi E, Brohée S, Salmon I, Dubois C, del Marmol V, Fuks F, Beck B, Blanpain C. Nature. 2014 Jul 10;511(7508):246-50. doi : 10.1038/nature13305 PMID: 24909994

- Differential expression of SOX17 and SOX2 in germ cells and stem cells has biological and clinical implications. de Jong J, Stoop H, Gillis AJ, van Gurp RJ, van de Geijn GJ, Boer M, Hersmus R, Saunders PT, Anderson RA, Oosterhuis JW, Looijenga LH. J Pathol. 2008 May;215(1):21-30. PMID: 18348160

- Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C, Heyningen VV, Fitzpatrick DR. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet A. 2006 Feb 6;140A(6):636-639 PMID: 16470798