A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a <i>MEN1</i> Variant of Uncertain Significance

  • Matsubayashi Hiroyuki
    Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan Division of Endoscopy, Shizuoka Cancer Center, Japan
  • Kiyozumi Yoshimi
    Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan
  • Harada Rina
    Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan
  • Mukaigawa Takashi
    Division of Head and Neck Surgery, Shizuoka Cancer Center, Japan
  • Sugiura Teichi
    Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center, Japan
  • Ishiwatari Hirotoshi
    Division of Endoscopy, Shizuoka Cancer Center, Japan
  • Sato Junya
    Division of Endoscopy, Shizuoka Cancer Center, Japan
  • Niiya Fumitaka
    Division of Endoscopy, Shizuoka Cancer Center, Japan
  • Nakashima Kazuaki
    Division of Breast Imaging and Breast Intervention Radiology, Shizuoka Cancer Center, Japan
  • Kado Nobuhiro
    Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan
  • Nishimura Seiichiro
    Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan
  • Honda Goichi
    Division of Research Center, Shizuoka Cancer Center, Japan
  • 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

  • Internal Medicine

    Internal Medicine 63 (8), 1119-1123, 2024-04-15

    一般社団法人 日本内科学会

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