ATRX, DAXX or MEN1 mutant pancreatic neuroendocrine tumors are a distinct alpha-cell signature subgroup

Nat Commun. 2018 Oct 12;9(1):4158. doi: 10.1038/s41467-018-06498-2.

Abstract

The commonly mutated genes in pancreatic neuroendocrine tumors (PanNETs) are ATRX, DAXX, and MEN1. We genotyped 64 PanNETs and found 58% carry ATRX, DAXX, and MEN1 mutations (A-D-M mutant PanNETs) and this correlates with a worse clinical outcome than tumors carrying the wild-type alleles of all three genes (A-D-M WT PanNETs). We performed RNA sequencing and DNA-methylation analysis to reveal two distinct subgroups with one consisting entirely of A-D-M mutant PanNETs. Two genes differentiating A-D-M mutant from A-D-M WT PanNETs were high ARX and low PDX1 gene expression with PDX1 promoter hyper-methylation in the A-D-M mutant PanNETs. Moreover, A-D-M mutant PanNETs had a gene expression signature related to that of alpha-cells (FDR q-value < 0.009) of pancreatic islets including increased expression of HNF1A and its transcriptional target genes. This gene expression profile suggests that A-D-M mutant PanNETs originate from or transdifferentiate into a distinct cell type similar to alpha cells.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Co-Repressor Proteins
  • DNA Methylation / genetics
  • DNA Methylation / physiology
  • Humans
  • Immunohistochemistry
  • Molecular Chaperones
  • Neuroendocrine Tumors / genetics*
  • Nuclear Proteins / genetics*
  • Promoter Regions, Genetic / genetics
  • Prospective Studies
  • Proto-Oncogene Proteins / genetics*
  • Retrospective Studies
  • X-linked Nuclear Protein / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • Co-Repressor Proteins
  • DAXX protein, human
  • MEN1 protein, human
  • Molecular Chaperones
  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • ATRX protein, human
  • X-linked Nuclear Protein