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

ABSTRACT:

Context

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.

Objective

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.

Design/methods

Three case studies, including clinical presentation, germline, and tumor genetic analysis and family history.

Setting

Two tertiary University Hospitals in Sydney, New South Wales, and 1 tertiary University Hospital in Canberra, Australian Capital Territory, Australia.

Outcome

Phenotype of th

SUBMITTER: Seabrook A 

PROVIDER: S-EPMC9282358 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature