Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis-case report and review of the literature

Nicoleta C. Arva, John G. Pappas, Teena Bhatla, Elizabeth A. Raetz, Michael MacAri, Howard B. Ginsburg, Cristina H. Hajdu*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

35 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)149-153
Number of pages5
JournalAmerican Journal of Surgical Pathology
Volume36
Issue number1
DOIs
StatePublished - Jan 1 2012

Keywords

  • AKT
  • PTEN pathway
  • mTOR
  • pancreatic neuroendocrine carcinoma
  • tuberous sclerosis

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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