title: Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.
abstract: A 12-year-old boy with tuberous sclerosis complex (TSC) presented with a large retroperitoneal tumour. Exploratory surgery revealed an infiltrative tumour originating from the pancreas, with local metastases to the lymph nodes. The histologal diagnosis was a malignant islet cell tumour. Retrospectively measured pancreatic hormone levels, however, were normal. A connection between the malignancy and TSC was demonstrated by loss of heterozygosity of the TSC2 gene in the tumour. The primary mutation Q478X in this patient was identified in exon 13 of the TSC2 gene on chromosome 16.
  
  
  CONCLUSIONS
  Pancreatic islet cell tumours have been mainly associated with multiple endocrine neoplasia syndrome type 1. In our case we demonstrate a direct relationship of this tumour to tuberous sclerosis complex, in the absence of further signs of multiple endocrine neoplasia syndrome type 1.
authors: Department of Clinical Genetics, Erasmus University of Rotterdam, The Netherlands. Verhoef@kgen.fgg.eur.nl
authors: S
authors: S
authors: Verhoef
authors: R
authors: R
authors: van Diemen-Steenvoorde
authors: W L
authors: WL
authors: Akkersdijk
authors: N M
authors: NM
authors: Bax
authors: Y
authors: Y
authors: Ariyurek
authors: C J
authors: CJ
authors: Hermans
authors: O
authors: O
authors: van Nieuwenhuizen
authors: P G
authors: PG
authors: Nikkels
authors: D
authors: D
authors: Lindhout
authors: D J
authors: DJ
authors: Halley
authors: K
authors: K
authors: Lips
authors: A M
authors: AM
authors: van den Ouweland
mesh_terms: D018273:Carcinoma, Islet Cell / Q000209:etiology / Q000235:genetics*; D002648:Child; D002885:Chromosomes, Human, Pair 16; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D010190:Pancreatic Neoplasms / Q000209:etiology / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics*