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#1722 New MEN-1 Gene Mutation Implicated in Familiar MEN-1 Syndrome Onset
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome associated with an increased risk of developing parathyroid, pituitary and pancreatic neuroendocrine tumors. MEN1 has an autosomal dominant pattern of hereditability and it is usually related to mutations in menin coding gene
Conference: 14th Annual ENETSConcerence (2017)
Presenting Author:
Authors: Grego E, Pellicciari M, Novak L, Ortolani S, Antista M,
Keywords: MEN1 syndrome, MEN1 gene mutation, neuroendocrine tumor,
Introduction: SDHx mutations are associated with a lifelong risk of multifocal paragangliomas (PGL), so patients need regular follow-up examinations.
Conference: 13th Annual ENETSConcerence (2016)
Presenting Author: Ćwikła J
Authors: Michałowska I, Peczkowska M, Cwikła J, Michalski W, Wyrwicz L,
Keywords: SDHx mutation, paraganglioma ,
Introduction: There are limited data and inconsistent findings of genetic alteration in pancreatic neuroendocrine tumors (pNET).
Conference: 13th Annual ENETSConcerence (2016)
Presenting Author:
Authors: Wen-Chi C, Yi-Chen Y, Yi-Ming S, Yee C, Po-Han L,
Keywords: pancreatic NETs, gene mutation, mTOR,
Introduction: Head and neck paragangliomas (HNPGLs) are non-producing neuroendocrine tumors, alhough 19-28% of patients have an increased dopamine production. The high sensitivity of 18F-DOPA PET also shows that these tumors might be able to synthesize catecholamines.
Conference: 11th Annual ENETSConcerence (2014)
Presenting Author:
Authors: Van der Horst-Schrivers A, Osinga T, Korpershoek E, De Krijger R, Kerstens M,
Keywords: paraganglioma, dopamine,
Introduction: Ileal Neuroendocrine Well-Differentiated Tumors (INWDT) are the most common neuroendocrine neoplasms in the gastrointestinal tract. Gene mutations of SDH complex drive pathogenesis of cancer cells through their role in angiogenesis and cell proliferation.
Conference: 11th Annual ENETSConcerence (2014)
Presenting Author: MILIONE M
Authors: Milione M, Gasparini P, Pusceddu S, Coppa J, Pellegrinelli A,
Keywords: ileum, neuroendocrine, SDHB, Ki-67, mitosis,