A functional polymorphism rs2257440 in the gene regulates its expression via MTF-1 in esophageal squamous cell carcinoma.

Purpose: The single nucleotide polymorphism (SNP) rs2257440 in exon 1 of the gene is known to be significantly associated with susceptibility to esophageal squamous cell carcinoma (ESCC). In the present study, bioinformatics analysis indicated that the SNP might influence the binding of a transcription factor, metal regulatory transcription factor 1 (MTF-1), to its target gene. We further investigated whether the polymorphism rs2257440 could regulate expression as a functional SNP via MTF-1.

Hepatic epithelioid angiomyolipoma with an unusual pathologic appearance: expanding the morphologic spectrum.

Hepatic epithelioid angiomyolipoma (AML) is a rare lesion that is characteristically composed of a predominant or exclusive population of epithelioid cells coexpressing melanocytic and myogenic markers. The cystic variant of epithelioid AML is exceedingly uncommon. In this study, we present the clinicopathological features of a case of hepatic epithelioid AML with remarkable cystic degeneration in a 34-year-old female as well as with a literature review.