ISSN:
1432-1076
Keywords:
Key words Tuberous sclerosis complex
;
TSC2 gene
;
Loss of heterozygosity
;
Pancreas
;
Islet cell tumour
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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. Conclusion 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310051073
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