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Molecular Signature of Rectal Neuroendocrine Neoplasia


Introduction: Rectal neuroendocrine tumors are rare neuroendocrine neoplasias (NEN). Little is known about prevalence and type of somatostatin receptor subtypes (sstr) expression and somatic mutations in relation to long-term clinical outcome.

Aim(s): To define molecular signatures that characterize distinct NEN within the intestinal tract (ileal, appendiceal and rectal NEN) and to explore whether molecular profiles mirror distinct tumor behaviour.

Materials and methods: Tumor specimens from 59 patients with NEN (12 appendiceal, 32 ileal (21 with distant metastases) and 15 rectal NEN (7 with distant metastases)) were analyzed. Expression of sstr2a and 5 was studied by immunohistochemistry and mutation screening was performed in 47 genes by next generation sequencing.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author:

Authors: Unger N, Theurer S, Herold T, Weber F, Dralle H,

Keywords: Somatic Mutations, NGS, Somatostatin receptor subtypes, Intestinal NEN,

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