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

Intern Med. 2023 Sep 1. doi: 10.2169/internalmedicine.2300-23. Online ahead of print.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.PMID:37661450 | DOI:10.2169/internalmedicine.2300-23

Source: Internal Medicine - September 4, 2023 Category: Internal Medicine Authors: Hiroyuki Matsubayashi Yoshimi Kiyozumi Rina Harada Takashi Mukaigawa Teichi Sugiura Hirotoshi Ishiwatari Junya Sato Fumitaka Niiya Kazuaki Nakashima Nobuhiro Kado Seiichiro Nishimura Goichi Honda Nobuyuki Ohike Source Type: research