SALL4

SALL4

A gene on chromosome 20q13.2 that encodes a zinc finger transcription factor, which may be involved in musculoskeletal embryogenesis.

Molecular pathology
SALL4 mutations cause Duane-radial ray syndrome.
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References in periodicals archive ?
Immunoexpression of SALL4 in Wilms tumors and developing kidney.
The germ cell tumor control block containing seminoma, embryonal carcinoma, yolk sac tumor, and placental tissues covers the most frequently used germ cell tumor markers, including sal-like protein 4 (SALL4), octamer-binding transcription factor 4 (OCT4), placental alkaline phosphatase (PLAP), sex-determining region Y box 2 (SOX2), NANOG homeobox (NANOG), cluster of differentiation (CD) 30, [alpha]-fetoprotein (AFP), glypican-3, CD117, podoplanin (D2-40), and cytokeratin (CK).
(1,212) The newer stem cell markers, such as SALL4, OCT4, and Nanog, are particularly useful in identification of GCTs.
The third review article comprehensively reviews some diagnostic strategies and algorithms, updates many recently described diagnostic markers such as GATA binding protein 3 (GATA3), placental S100 (S100P), mammary serine protease inhibitor (maspin), von Hippel-Lindau tumor suppressor gene protein (pVHL), paired box gene (PAX) 8, ETS-related gene (ERG), sal-like protein 4 (SALL4), sex-determining region Y box (SOX) 10, arginase-1, napsin A, special AT-rich sequence-binding protein 2 (SATB2), and cadherin-17, and refines the diagnostic IHC panels frequently used in daily practice.
Immunostaining for CD56, EMA, MART1 (clone A103; mouse monoclonal), S100, synaptophysin, pancytokeratin, desmin, inhibin, SALL4, and placental alkaline phosphatase was negative.
In this review, we will especially emphasize the impact of some of the newly reported and readily available pluripotency markers (SALL4, OCT3/4, and SOX2) on the diagnosis of MOGCTs.
(39) Immunophenotypically, sex cord-stromal tumors are often positive for inhibin, Melan-A, and calretinin and are uniformly negative for fetal germ cell and other markers that stain seminoma, including OCT3/4, SALL4, PLAP, CD117, and D2-40.
(103,104) Most recently, SALL4 has been shown to demonstrate strong nuclear staining in germinoma, embryonal carcinoma, and yolk sac tumors.
In a different original study using an immunocytologic approach, Ren and Klump showed that 87.6% of carcinomas of Mullerian origin in ascites and pleural fluids were positive for PAX8; 19.2%, 18.1%, 23.4%, and 8.5% of high-grade serous carcinomas were positive for GATA3, SOX2, uroplakin II, and SALL4, respectively.
The tubular structures were weakly positive for WT-1, but SALL4 was non-reactive indicating an absence of germ cells in the tubules (not shown).
Dort ailede ise iliskili genlerdeki (SF3B4, SALL4, TBX5, FANCA) mutasyonlar calisma oncesinde molekuler analizlerle belirlenmisti.
Results of immunohistochemistry staining were: pan-cytokeratin (+), protein 63 (P63) (+), Sal-like protein 4 (SALL4) (+), CD 99 (+), alpha-fetoprotein (+), glypican (+), vimentin (+), Tiroid transkripsiyon faktor-1 (TTF-1) (-), napsin-A (-), Cluster of Differantiation 30 (CD 30) (-), cytokeratin 20 (-), cytokeratin 20 (-), Epithelial membrane antigen (EMA) (-), Transducin-like enhancer protein 1 (TLE1) (-), and Octamer-binding transcription factor 4 (Oct-4) (-).