Significance of ATRX/DAXX Expression and Alternative Lengthening of Telomeres in Insulinomas and Neuroendocrine Tumors of Small Intestine.

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Introduction: ATRX and DAXX mutations associated with alternative lengthening of telomeres ( ALT) phenotype have been shown as one of the major altered pathways in pancreatic neuroendocrine tumors (PanNET).

Aim(s): We investigated the relevance of these alterations in a large set of insulinomas and small intestine neuroendocrine tumors (siNET).

Materials and methods: In our study we characterized 78 insulinomas (65 with benign and 13 with malignant behaviour) and 137 siNET (54 with benign and 84 with malignant behaviour). We examined the loss of expression of DAXX and ATRX by immunohistochemistry. Further we analysed them for ultrabright signals by telomere specific fluorescence in situ hybridisation as an evidence for an ALT phenotype.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author:

Authors: Neumayer B, Normand L, Hoffmeister M, Friemel J, Perren A,

Keywords: DAXX, ATRX, Alternative lengthening of telomeres, neuroendocrine tumor, Insulinoma,

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