Unusual Clinical and Pathological Presentation of a Neuroendocrine Tumor in a Patient with Multiple Endocrine Neoplasia Type 1
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- SAKURAI Akihiro
- Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Hokushin General Hospital, Nakano, Japan
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- MURAKAMI Akiko
- Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Japan
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- SANO Kenji
- Department of Laboratory Medicine, Shinshu University School of Medicine, Matsumoto, Japan
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- UCHINO Shinya
- Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Japan
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- FUKUSHIMA Yoshimitsu
- Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
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抄録
Neuroendocrine tumors develop in various organs in patients with multiple endocrine neoplasia type 1 (MEN1). Among those, tumors developed in upper gastrointestinal tract, thymus and bronchus have historically been called “carcinoid tumor”. Occurrence of “carcinoid tumor” in other region is very rare and molecular pathogenesis of such tumors is unknown. We have experienced a patient with MEN1 who have developed an “ectopic” retroperitoneal neuroendocrine tumor. Genetic analysis of the MEN1 gene in tumor cells revealed a somatic mutation in exon 9 as well as a germline mutation in exon 10. Allele-specific amplification followed by sequence analysis revealed these two mutations exist on the different allele, indicating both alleles are functionally inactivated. Immunohistochemical staining with an anti-menin antibody revealed that wild-type menin is not expressed in tumor cells. Expression of p27Kip1 protein is not observed in tumor cells, either. These results confirmed the inactivation of the MEN1 gene as a genetic cause of an ectopically developed neuroendocrine tumor in a patient with MEN1.
収録刊行物
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- Endocrine Journal
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Endocrine Journal 56 (7), 887-895, 2009
一般社団法人 日本内分泌学会
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詳細情報 詳細情報について
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- CRID
- 1390282681275934720
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- NII論文ID
- 10026915335
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- NII書誌ID
- AA10901436
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- ISSN
- 13484540
- 09188959
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- HANDLE
- 10091/10786
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- IRDB
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