title: Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature.
abstract: Neuroendocrine tumors of the pancreas are rare in children. They usually occur in the setting of genetic syndromes such as multiple endocrine neoplasia type 1, von Hippel-Lindau disease, and neurofibromatosis 1. These tumors have also been reported in the tuberous sclerosis complex (TSC), but the incidence is low in comparison with other syndromes. Only 9 cases have been described to date, and it is not yet well understood if any connection exists between TSC and pancreatic endocrine tumors. TSC is characterized by mutations in TSC1 and TSC2 genes, which activate the AKT-mTOR oncogenic cascade. Recent molecular studies in pancreatic endocrine tumors showed activation of the same pathway, which points toward a common molecular pathway between these two entities. We present a case of well-differentiated neuroendocrine carcinoma of the pancreas in a child with TSC and discuss the genetic aspects of this disease.
authors.affiliation: Department of Pathology, New York University Langone Medical Center, New York, NY, USA.
authors.forename: Nicoleta C
authors.initials: NC
authors.lastname: Arva
authors.forename: John G
authors.initials: JG
authors.lastname: Pappas
authors.forename: Teena
authors.initials: T
authors.lastname: Bhatla
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Raetz
authors.forename: Michael
authors.initials: M
authors.lastname: Macari
authors.forename: Howard B
authors.initials: HB
authors.lastname: Ginsburg
authors.forename: Cristina H
authors.initials: CH
authors.lastname: Hajdu
mesh_terms: D000293:Adolescent; D018278:Carcinoma, Neuroendocrine / Q000235:genetics / Q000473:pathology*; D002454:Cell Differentiation / Q000235:genetics; D006801:Humans; D008297:Male; D010190:Pancreatic Neoplasms / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins