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.
References in periodicals archive ?
The transcription factor SALL4 has been extensively studied as a marker in the diagnostic distinction between sex cord stromal tumors and GCTs.
2012) CDX1 confers intestinal phenotype on gastric epithelial cells via induction of stemness-associated reprogramming factors SALL4 and KLF5.
The resulting analysis identified 18 genes - some such as AURKA, UBE2C, TPX2, FAM83D, ZNF217, SALL4 and MMP9 have been previously known to potentially cause cancer.
To help distinguish seminoma from malignant lymphoma, we added immunostains for CD79a (result: negative) and SALL4 (positive; Figure 4).
SALL4 is a novel sensitive and specific marker for metastatic germ cell tumors, with particular utility in detection of metastatic yolk sac tumors.
A novel heterozygous nonsense mutation occurred in the SALL4 gene complex of all affected members of a given family.
1 Similarly Duane- radial ray syndrome (OMIM-607323) is similar to Holt-Oram syndrome with additional symptoms in eyes ears and kidneys and is associated with mutations in SALL4.
Other markers like cytokeratin and epithelial membrane antigen also show positivity in a large number of cases, however SALL4 has been shown to have 100% sensitivity with 94% cells staining positively.
The tumor cells were positive for CK, SALL4, OCT3/4, NANOG, and CD117, and negative for LCA, S100, and vimentin, as illustrated in Figure 10, C through F.
2) SALL4 is a stem cell nuclear transcriptional factor characterized by diffuse nuclear expression in the majority of germ cell tumors except choriocarcinoma.
58) When used in combination with the non-germ cell tumor markers, PLAP and SALL4 reliably separate germ cell tumors from epithelial and gonadal stromal neoplasms in most cases (Table 2).
SALL4 and PAX8 expression in carcinomas from various organs [USCAP abstract 956].