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

Yuchen Jiao, Kimberly Lumpkins, Julia Terhune, Ralph H. Hruban, Alison Klein, Kenneth W. Kinzler, Nickolas Papadopoulos, Bert Vogelstein, Eric Strauch

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)194-196
Number of pages3
JournalPancreatology
Volume15
Issue number2
DOIs
StatePublished - Mar 1 2015

Keywords

  • Germline mutation
  • Intraductal papillary mucinous neoplasm
  • KRAS
  • Neonatal hypoglycemia
  • Pancreas
  • SKIL

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Hepatology
  • Endocrinology

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