SOX2
MIM.184429 3q26.3-q27
Sox2 is a marker of embryonic stem cell pluripotency.
Pathology
germline mutations in
- microphtalmia
- anophtalmia
SOX2 is associated with aggressive tumor behavior and is expressed in a subset of lung adenocarcinomas.
- 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.
- Many patients with stage I nonsmall cell lung carcinoma will develop recurrence after surgical excision.
See also
SOXs
OCT4, SOX2, NANOG
OCT4/SOX2/NANOG
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#
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#