Intraductal papillary mucinous neoplasm in a neonate with congenital hyperinsulinism and a de novo germline SKIL gene mutation

Pancreatology. 2015 Mar-Apr;15(2):194-6. doi: 10.1016/j.pan.2014.10.009. Epub 2014 Oct 27.

Abstract

A 3 day old infant with persistent severe hypoglycemia was found to have a cystic pancreatic tumor. Cessation of glucose infusion led to severe hypoglycemia. Pancreaticoduodenectomy was performed and revealed an intraductal papillary mucinous neoplasm (IPMN) with high-grade dysplasia. Sequencing of the IPMN revealed a KRAS gene mutation not present in surrounding normal tissues. Deep sequencing of the patient's blood for KRAS mutations showed no evidence of mosaicism. Whole exome sequencing of the blood of the patient and both parents revealed a de novo germline SKIL mutation in the child that was not present in either parent. This suggests a possible role for SKIL in the pathogenesis of pancreatic tumors.

Keywords: Germline mutation; Intraductal papillary mucinous neoplasm; KRAS; Neonatal hypoglycemia; Pancreas; SKIL.

Publication types

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

MeSH terms

  • Congenital Hyperinsulinism / complications*
  • Female
  • Humans
  • Infant, Newborn
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Mutation / genetics
  • Neoplasms, Cystic, Mucinous, and Serous / genetics*
  • Neoplasms, Cystic, Mucinous, and Serous / pathology*
  • Neoplasms, Cystic, Mucinous, and Serous / surgery
  • Pancreatic Neoplasms / genetics*
  • Pancreatic Neoplasms / pathology*
  • Pancreatic Neoplasms / surgery
  • Proto-Oncogene Proteins / genetics*

Substances

  • Intracellular Signaling Peptides and Proteins
  • Proto-Oncogene Proteins
  • SKIL protein, human