A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a <i>MEN1</i> Variant of Uncertain Significance
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- Matsubayashi Hiroyuki
- Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan Division of Endoscopy, Shizuoka Cancer Center, Japan
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- Kiyozumi Yoshimi
- Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan
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- Harada Rina
- Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan
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- Mukaigawa Takashi
- Division of Head and Neck Surgery, Shizuoka Cancer Center, Japan
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- Sugiura Teichi
- Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center, Japan
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- Ishiwatari Hirotoshi
- Division of Endoscopy, Shizuoka Cancer Center, Japan
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- Sato Junya
- Division of Endoscopy, Shizuoka Cancer Center, Japan
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- Niiya Fumitaka
- Division of Endoscopy, Shizuoka Cancer Center, Japan
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- Nakashima Kazuaki
- Division of Breast Imaging and Breast Intervention Radiology, Shizuoka Cancer Center, Japan
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- Kado Nobuhiro
- Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan
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- Nishimura Seiichiro
- Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan
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- Honda Goichi
- Division of Research Center, Shizuoka Cancer Center, Japan
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- Ohike Nobuyuki
- Division of Pathology, Shizuoka Cancer Center, Japan
抄録
<p>Multiple gastroenteric, pancreatic, and pituitary neuroendocrine neoplasms (NENs) were diagnosed in a 74-year-old man with a history of primary hyperparathyroidism (PHPT). Germline testing demonstrated a variant of MEN1 (c.1694T>A, p.L565Q), whose pathogenicity was classified as a variant of uncertain significance (VUS) according to the ACMG/AMP guidelines. The same germline variant was detected in the patient's son and daughter, who also showed PHPT or hypercalcemia and met the clinical diagnostic criteria for multiple endocrine neoplasia type 1 (MEN1). During surveillance of the son, multiple pancreatic tumors suggestive of NENs were detected. The pathogenicity of the current MEN1 variant was re-evaluated as likely pathogenic, based on additional family data. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 63 (8), 1119-1123, 2024-04-15
一般社団法人 日本内科学会