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- Title
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.
- Authors
Verhoef, S.; van Diemen-Steenvoorde, R.; Akkersdijk, W. L.; Bax, N. M. A.; Ariyurek, Y.; Hermans, C. J.; van Nieuwenhuizen, O.; Nikkels, P. G. J.; Lindhout, D.; Halley, D. J. J.; Lips, K.; van den Ouweland, A. M. W.; Bax, N M; Nikkels, P G; Halley, D J; van den Ouweland, A M
- Abstract
<bold>Unlabelled: </bold>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.<bold>Conclusion: </bold>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.
- Subjects
TUBEROUS sclerosis; PANCREATIC tumors; TUMORS in children; CHROMOSOMES; COMPARATIVE studies; GLUCAGONOMA; RESEARCH methodology; MEDICAL cooperation; GENETIC mutation; RESEARCH; EVALUATION research; DISEASE complications
- Publication
European Journal of Pediatrics, 1999, Vol 158, Issue 4, p284
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/s004310051073