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• W4249652811 abstract "We read with interest the letter of Tsukada et al. (2000) referring to our recent paper (Görtz et al., 1999b), in which we studied adrenocortical lesions for somatic MEN1 gene mutations and allelic loss. We reported an incidentally identified, clinically not suspected, MEN1 gene carrier with a 5178-9G→A germline mutation. This patient initially presented with an adrenocortical adenoma and developed a bronchial neuroendocrine (carcinoid) tumor 3 years later but clinically showed no further symptoms of MEN1. Based on this single patient observation, we assumed that this particular type of mutation might be associated with a special phenotype of MEN1. We were pleased to learn that Tsukada et al. (2000) have identified 2 families with this mutation, confirming that the 5178-9G→A mutation in intron 4 is not a polymorphism as concluded by Bassett et al. (1998) but a splice donor site mutation. As reported by us (Görtz et al., 1999b) and independently confirmed by Kishi et al. (1999), this mutation induces a splice acceptor site 7 nucleic acids prior to the splice site in the wild-type DNA and thereby leads to a shift in the reading frame of exon 5, resulting in a truncated upstream protein (Fig. 1). The 5178-9G→A splice donor mutation induces a splice acceptor site 7 nucleic acids before the splice site in wild-type DNA, leading to a shift in the reading frame of exon 5 and a truncated upstream protein. Since our publication (Görtz et al., 1999a, Görtz et al., 1999b), we have further analyzed the adrenocortical tumor of the patient by RT-PCR, to confirm the altered splice product. After extraction of RNA and generation of cDNA using random priming, PCR products including the inton–exon junctions of exons 4 and 5 were generated using the forward primer “menin4F”, 5′-AGCTGGCTGTACCTGAAA-3′, and the reverse primer “menin5R”, 5′-GTCCCAGGTCATAGAGCA-3′. As shown in Figure 1a, analysis of the adrenocortical tumor A22 revealed an additional band 165 bp in length, indicating the presence of 2 mRNA species, 7 bp longer (Fig. 1b) than the normal cDNA (158 bp). We also agree with the authors that there is, so far, no strict genotype–phenotype correlation in MEN1 as seen in MEN2 (Komminoth, 1999; Komminoth et al., 1995) and that more data are needed to elucidate the exact biological mechanism of the reported 5178-9G→A and other mutations causing the MEN1 phenotype. Interestingly, since the publication of our manuscript (Görtz et al., 1999b), the reported patient has died from a metastasizing multifocal hepatocellular carcinoma, which developed in a cirrhotic liver with chronic aggressive viral hepatitis B. Careful examination of all endocrine organs at autopsy revealed a nodular hyperplasia of 3 parathyroid glands (Fig. 2a), a solitary 6 mm endocrine pancreatic tumor with immunohistochemical expression of pancreatic polypeptide (Fig. 2b), several 3 mm microgastrinomas of the duodenum (Fig. 2c,d), as well as a nodular hyperplasia of the remaining left adrenal gland cortex (Fig. 2e). No obvious skin lesions, other neuroendocrine tumors or metastases thereof, pituitary lesions, gastro-intestinal ulcers, or microadenomatoses of the pancreas were found. Thus, although clinically not evident, the majority of features typical of the MEN1 phenotype could be identified at autopsy, indicating that all patients suffering from multiple neuroendocrine tumors and/or other MEN1-associated lesions of the skin, adipose tissue, or adrenal cortex should be analyzed for MEN1 gene mutations. Autopsy of the patient revealed the following: (a) nodular hyperplasia of 3 parathyroid glands, (b) a solitary 6 mm endocrine pancreatic tumor with immunohistochemical expression of pancreatic polypeptide, (c,d) several 3 mm microgastrinomas of the duodenum, and (E) nodular hyperplasia of the remaining left adrenal gland cortex. Yours sincerely, Paul Komminoth paul.komminoth@pty.usz.ch" @default.
• W4249652811 created "2022-05-12" @default.
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• W4249652811 date "2000-07-15" @default.
• W4249652811 modified "2023-09-26" @default.
• W4249652811 title "A 5178‐9g→ A splice donor site mutation in intron 4 of the MEN1 gene causing multiple endocrine neoplasia type 1" @default.
• W4249652811 doi "https://doi.org/10.1002/1097-0215(20000715)87:2<306::aid-ijc26>3.3.co;2-e" @default.
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