MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations

原发性甲状旁腺功能亢进 先证者 多发性内分泌肿瘤 门1 生殖系 内科学 垂体瘤 腺瘤 神经内分泌肿瘤 甲状旁腺功能亢进 种系突变 医学 内分泌学 病理 生物 遗传学 突变 基因
作者
Amanda Seabrook,Ayanthi Wijewardene,Sunita De Sousa,Tang Wong,Nisa Sheriff,Anthony J. Gill,Rakesh Iyer,Michael Field,Catherine Luxford,Roderick Clifton‐Bligh,Ann McCormack,Katherine Tucker
出处
期刊:The Journal of Clinical Endocrinology and Metabolism [Oxford University Press]
卷期号:107 (8): 2339-2349 被引量:25
标识
DOI:10.1210/clinem/dgac162
摘要

Germline CDKN1B pathogenic variants result in multiple endocrine neoplasia type 4 (MEN4), an autosomal dominant hereditary tumor syndrome variably associated with primary hyperparathyroidism, pituitary adenoma, and duodenopancreatic neuroendocrine tumors.To report the phenotype of 3 unrelated cases each with a unique germline CDKN1B variant (of which 2 are novel) and compare these cases with those described in the current literature.Three case studies, including clinical presentation, germline, and tumor genetic analysis and family history.Two tertiary University Hospitals in Sydney, New South Wales, and 1 tertiary University Hospital in Canberra, Australian Capital Territory, Australia.Phenotype of the 3 cases and their kindred; molecular analysis and tumor p27kip1 immunohistochemistry.Family A: The proband developed multiglandular primary hyperparathyroidism, a microprolactinoma and a multifocal nonfunctioning duodenopancreatic neuroendocrine tumor. Family B: The proband was diagnosed with primary hyperparathyroidism from a single parathyroid adenoma. Family C: The proband was diagnosed with a nonfunctioning pituitary microadenoma and ectopic Cushing's syndrome from an atypical thymic carcinoid tumor. Germline sequencing in each patient identified a unique variant in CDKN1B, 2 of which are novel (c.179G > A, p.Trp60*; c.475G > A, p.Asp159Asn) and 1 previously reported (c.374_375delCT, p.Ser125*).Germline CDKN1B pathogenic variants cause the syndrome MEN4. The phenotype resulting from the 3 pathogenic variants described in this series highlights the heterogenous nature of this syndrome, ranging from isolated primary hyperparathyroidism to the full spectrum of endocrine manifestations. We report the first described cases of a prolactinoma and an atypical thymic carcinoid tumor in MEN4.
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