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• W2023201568 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.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." @default.
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• W2023201568 date "1999-03-04" @default.
• W2023201568 modified "2023-10-01" @default.
• W2023201568 title "Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood" @default.
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• W2023201568 doi "https://doi.org/10.1007/s004310051073" @default.
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