Nothing but NET? Neuroendocrine tumors in multiple endocrine neoplasia 4

#3662

Introduction: Multiple endocrine neoplasia 4 (MEN4) is a rare multi-neoplasia syndrome caused by a germline pathogenic variant in CDKN1B gene, encoding p27, a cell-cycle regulator. MEN4 manifestations include primary hyperparathyroidism (PHPT), pituitary adenomas (PitAd), and neuroendocrine neoplasms (NEN). The characteristics of MEN4-NENs have not been thoroughly characterized thus far.

Aim(s): To assess the age-dependent risk and a possible genotype-phenotype correlation in MEN4-related NENs.

Materials and methods: A literature review on published and unpublished data from previously reported MEN4/CDKN1B cases. Additional three novel MEN4 families are reported. We performed univariate analysis for time-dependent risks of developing NEN by variant type and genetic position.

Conference:

Presenting Author:

Authors: Halperin R, Arnon L, Nasirov S, Friedensohn L, Gershinsky M,

Keywords: MEN4, CDKN1B, lifetime risk, genotype-phenotype, multiple endocrine neoplasia,