• Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Rina Harada, Takashi Mukaigawa, Teichi Sugiura, Hirotoshi Ishiwatari, Junya Sato, Fumitaka Niiya, Kazuaki Nakashima, Nobuhiro Kado, Seiichiro Nishimura, Goichi Honda, and Nobuyuki Ohike.
• Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
• Intern. Med. 2024 Apr 15; 63 (8): 111911231119-1123.

AbstractMultiple 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.

19 keywords...

hide…