title: Intraductal papillary mucinous neoplasm in a neonate with congenital hyperinsulinism and a de novo germline SKIL gene mutation.
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.
authors.affiliation: Departments of Oncology and Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Yuchen
authors.initials: Y
authors.lastname: Jiao
authors.affiliation: Division of Pediatric Surgery, Department of Surgery, University of Maryland School of Medicine, Baltimore, MD, USA. Electronic address: klumpkins@smail.umaryland.edu.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Lumpkins
authors.affiliation: Division of Pediatric Surgery, Department of Surgery, University of Maryland School of Medicine, Baltimore, MD, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Terhune
authors.affiliation: Departments of Oncology and Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Ralph H
authors.initials: RH
authors.lastname: Hruban
authors.affiliation: Departments of Oncology and Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Alison
authors.initials: A
authors.lastname: Klein
authors.affiliation: Departments of Oncology and Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Kenneth W
authors.initials: KW
authors.lastname: Kinzler
authors.affiliation: Departments of Oncology and Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Nickolas
authors.initials: N
authors.lastname: Papadopoulos
authors.affiliation: Departments of Oncology and Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Bert
authors.initials: B
authors.lastname: Vogelstein
authors.affiliation: Division of Pediatric Surgery, Department of Surgery, University of Maryland School of Medicine, Baltimore, MD, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Strauch
mesh_terms: D044903:Congenital Hyperinsulinism / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D018297:Neoplasms, Cystic, Mucinous, and Serous / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D010190:Pancreatic Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D011518:Proto-Oncogene Proteins; C060615:SKIL protein, human
keywords: Germline mutation; Intraductal papillary mucinous neoplasm; KRAS; Neonatal hypoglycemia; Pancreas; SKIL