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Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 17 December 2011, last major update December 2011
Copyright: (c) 2002-2011, PathologyOutlines.com, Inc.


● First characterized in 2002 (Hum Mol Genet 2002;11:2979); stem cell marker and oncofetal protein similar to alpha-fetoprotein and glycipan3
● Zinc-finger transcriptional factor important for embryonic development, at 20q13


● Maintains stem cell identity and governs stem cell self-renewal through transcriptional repression, possibly through repression of different DNA methyltransferases (J Biol Chem 2011 Nov 29 [Epub ahead of print])

Clinical features

● SALL4-related disorders include Duane-radial ray syndrome and acro-renal-ocular syndrome (GeneReviews [Internet])


● Nuclear staining

Uses by pathologists

● Distinguish hepatoid gastric carcinoma (SALL4+) from hepatocellular carcinoma (SALL4-, Am J Surg Pathol 2010;34:533)
● Distinguish ovarian yolk sac tumor (SALL4+) from clear cell carcinoma (SALL4-, Am J Surg Pathol 2009;33:894)
● Sensitive (~100%) marker for extragonadal yolk sac tumor with strong diffuse staining (Am J Surg Pathol 2009;33:1529)

Micro images

CNS tumors (left to right): germinoma and embryonal carcinoma, yolk sac tumor, teratomas

Left: Staining of CD34+ hematopoietic stem/progenitor cells, AML, B lymphoblastic leukemia/lymphoma, but not T cell lymphoblastic leukemia/lymphoma
Middle: No staining of normal lymph nodes, tonsil, thymus
Right: No staining of follicular lymphoma, Burkitt's lymphoma, Hodgkin's lymphoma, myeloma

Positive staining - normal

● Fetal stomach at gestational week 9 only; CD34+ hematopoietic stem/progenitor cells

Positive staining - disease

● Gastric carcinomas (15%)
● Germ cell tumors (intratubular germ cell neoplasia, seminoma [classic and spermatocytic], dysgerminoma, embryonal carcinoma, yolk sac tumor, ovarian gonadoblastoma, but teratoma/choriocarcinoma are variable, Am J Surg Pathol 2010;34:697, Am J Surg Pathol 2009;33:1065)
● Malignant rhabdoid tumors (~ 80% of CNS or non-CNS, Am J Surg Pathol 2011;35:1463)
● Pre B lymphoblastic leukemia/lymphoma and AML (Mod Pathol 2006;19:1585)

End of Stains > SALL4

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