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Endometrial carcinomas are known to have the potential for recurrences that are distinctly discordant at the morphologic and immunophenotypic levels from their antecedent primary tumors. This report describes 3 patients with stage I, low or intermediate grade, conventional endometrioid carcinomas that recurred at the vaginal apex as notably clear cell-rich, higher grade, histotypically ambiguous neoplasms. Comparative immunohistochemical analyses were performed on all cases on both the original and the recurrent tumors using a panel of 8 biomarkers, including estrogen receptor, progesterone receptor, vimentin, p53, p16, hepatocyte nuclear factor 1β, BAF250a (ARID1A), and stathmin or oncoprotein-18 (STMN1). Notable immunophenotypic differences (relative to the original tumor) in case 1 included the relative loss of vimentin and estrogen receptor and the acquisition of p53, p16, and STMN1 expression in the recurrence. In case 2, significant p16 and STMN1 expression were identified only in the recurrence. In case 3, there were no significant immunophenotypic differences between the original tumor and the recurrence. In all 3 cases, the recurrent and original tumors showed no significant differences in BAF250a, hepatocyte nuclear factor 1β, and progesterone receptor expression. In summary, our cases confirm that endometrioid carcinomas can recur as clear cell-rich tumors. The relative acquisition of STMN1 expression in 2 of the 3 recurrences and p53 overexpression in 1 of 3 recurrences suggests that this phenomenon represents a form of tumor evolution, and this may be a potential contributor to tumor progression in these patients.
Copyright © 2013 Elsevier Inc. All rights reserved.
Vesicular transport to and from the lysosome and late endosome is defective in patients with Chediak-Higashi syndrome (CHS) and in mutant beige (bg) mice. CHS and bg cells have giant, perinuclear vesicles with characteristics of late endosomes and lysosomes that arise from dysregulated homotypic fusion. CHS and bg lysosomes also exhibit compartmental missorting of proteins, such as elastase, glucuronidase and cathepsin G. Lyst, a candidate gene for bg, was identified by direct complementary DNA selection from a yeast artificial chromosome (YAC) clone containing a 650-kilobase segment of the bg-critical region on mouse chromosome 13. Lyst is disrupted by a 5-kilobase deletion in bg mice, and Lyst messenger RNA is markedly reduced in bg homozygotes. The homologous human gene, LYST, is highly conserved with mouse Lyst, and contains a frame-shift mutation at nucleotides 117-118 of the coding domain in a CHS patient. Thus bg mice and human CHS patients have homologous disorders associated with Lyst mutations. Lyst encodes a protein with a carboxy-terminal prenylation motif and multiple potential phosphorylation sites. Lyst protein is predicted to form extended helical domains, and has a region of sequence similar to stathmin, a coiled-coil phosphoprotein thought to act as a relay integrating cellular signal response coupling.