Abstract Library

#4151 Identifying potential tumor drivers through integration of gene expression and DNA copy number in SI-NET

Introduction: The genetics of small intestine neuroendocrine tumors (SI-NETs) remains poorly understood. To date, only CDKN1B has been found recurrently mutated, in approximately 9% of cases. On the contrary, DNA copy number alterations are found in a majority of cases. The most frequent aberration is heterozygous loss of chromosome 18. In addition, loss of chromosome 11, and gains on chromosomes 4, 5 and 14 are common. The cellular mechanisms through which these alterations drive tumor development are unknown.

Conference:

Presenting Author: Backman S

Authors: Backman S, Barazeghi E, Norlén O, Hellman P, Stålberg P,

Keywords: SI-NET, RNA-Seq, Gene dosage, Haplo-insufficiency, Copy number,

#3392 The chromosome 18 loss of heterozygosity axis of small intestinal neuroendocrine tumors

Introduction: Small intestinal neuroendocrine tumors (siNETs) are rare neoplasms which have low mutational burdens: With subtypes characterised in terms of copy number variation (CNV). Subtypes are defined as: Chromosome 18 loss of heterozygosity (18LOH), multiple copy number variation (MultiCNV), or no copy number variations (NoCNV). 18LOH tumors are associated with improved outcomes, the reasons for which are poorly understood.

Conference:

Presenting Author: Waterfield S

Authors: Waterfield S, Yousefi P, Amaulu A, Relton C, Thirlwell C,

Keywords: neuroendocrine, small intestinal, methylation, epigenetics, omics,

#1490 Even Malignant Appendiceal Neuroendocrine Tumors Exhibit No Recurrent Chromosomal Alterations

Introduction: Neuroendocrine tumors (NETs) of the midgut are located in the ileum (iNET), caecum or appendix (aNET). Despite of the similar origin, NETs of the ileum and the appendix behave remarkably different. iNETs show high malignant potential, which manifests with early lymph node or liver metastases. Genetically, the loss of chromosome 18 (Ch18) in 60-74% of cases is the most frequent alteration in iNETs. aNETs are often incidental findings, rarely show metastases, and no chromosomal alterations are known.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Sipos B

Authors: Nann D, Nieser M, Sperveslage J, Henopp T, Vokuhl C,

Keywords: NET,

#730 Loss of Chromosome 18 in Neuroendocrine Tumors of the Midgut

Introduction: The genetic alterations in neuroendocrine tumors (NET) of the midgut, in particular of the appendix (aNET), are poorly characterized. The most frequent chromosomal aberration in ileal NET (iNET) is the loss of one chromosome 18. The relevance of this alteration is unclear.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author:

Authors: Henopp T, Brix J, Sperveslage J, Anlauf M, Petersen K,

Keywords: chr18,

#700 Comparative Expression Analysis of Chromosome 18 Related miRNAs in Ileal NET with and without Chr18 Loss

Introduction: MicroRNAs (miRs) play important roles in many kinds of biological processes. Because the (partial) loss of one chromosome 18 (Chr18) is a frequent event in ileal NETs (iNETs), we assessed the potential deregulation of miR-expression in these patients.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author: Sperveslage J

Authors: Hoffmeister M, Sperveslage J, Henopp T, Anlauf M, Petersen K,

Keywords: NET, mir-expression,