General Description

To test the hypothesis that the underlying molecular mechanisms specifically unique to the ALT pathway can be exploited therapeutically, for example by treatment with inhibitors of the DNA damage response pathway.

Results

Molecular alterations, such as DAXX mutations, chromosomal gains, and ALT, are associated with an increased risk of metastasis in small PanNETs. Therefore, targeted sequencing and/or ALT analysis may help in the clinical decisions for these small PanNETs.

Publications

Pea A, Yu J, Marchionni L, Noe M, Luchini C, Pulvirenti A, de Wilde RF, Brosens LA, Rezaee N, Javed A, Gobbo S, Regi P, Salvia R, Bassi C, He J, Weiss MJ, Cameron JL, Offerhaus GJA, Hruban RH, Lawlor RT, Scarpa A, Heaphy CM, Wood LD, Wolfgang CL. Genetic analysis of small well-differentiated pancreatic neuroendocrine tumors identifies subgroups with differing risks of liver metastases. Ann Surg. 2018 Oct 17. doi: 10.1097/SLA.0000000000003022.

Heaphy CM, de Wilde RF, Jiao Y, et al. Altered telomeres in tumors with ATRX and DAXX mutations. Science. 2011;333(6041):425.