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

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 unce...

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Bibliographic Details
Published in:Internal Medicine 2024/04/15, Vol.63(8), pp.1119-1123
Main Authors: Matsubayashi, Hiroyuki, Kiyozumi, Yoshimi, Harada, Rina, Mukaigawa, Takashi, Sugiura, Teichi, Ishiwatari, Hirotoshi, Sato, Junya, Niiya, Fumitaka, Nakashima, Kazuaki, Kado, Nobuhiro, Nishimura, Seiichiro, Honda, Goichi, Ohike, Nobuyuki
Format: Article
Language:English
Subjects:
Aged
Germ-Line Mutation
Humans
Hypercalcemia
Hyperparathyroidism
Japan
Male
MEN1
Multiple endocrine neoplasia
Multiple Endocrine Neoplasia Type 1 - diagnosis
Multiple Endocrine Neoplasia Type 1 - genetics
Multiple Endocrine Neoplasia Type 1 - pathology
neuroendocrine tumor
Neuroendocrine tumors
Neuroendocrine Tumors - pathology
Pancreas
Pathogenicity
Pituitary
Pituitary Neoplasms
variant of uncertain significance
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Summary: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.2300-23