Abstract Library

#4465 RET Lys666Asn has low MEN2-related tumours penetrance but may be associated with pheochromocytoma

Introduction: Multiple Endocrine Neoplasia type 2 (MEN2) is caused by germline pathogenic variants (PVs) in the RET proto-oncogene, leading to medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism (PHPT). RET c.1998G>C, p.Lys666Asn is a rare PV, with 33 cases described thus far, and is associated with low penetrance of MEN2-related tumours, but its clinical significance remains incompletely understood.

Conference:

Presenting Author: Halperin R

Authors: Halperin R, Peshes-Yaloz N, Tirosh A, Twito O,

Keywords: MEN2, pheochromocytoma, hyperparathyroidism, medullary thyroid carcinoma,

#4178 MEN1 syndrome across four generations

Introduction: MEN1 should be suspected in patients with an endocrinopathy of two of the three typically affected organs, or with an endocrinopathy of one of these organs and a first-degree relative affected by MEN1 syndrome. Still, a delay in diagnosis occurs in most cases.

Conference:

Presenting Author:

Authors: Ciobanu O, Martin S, Muha M, Fica S,

Keywords: MEN1 syndrome, large kindred, case series,

#3971 Clinical manifestation and aggressiveness of duodenopancreatic neuroendocrine tumors (DP-NET) in patients with MEN1 syndrome: A possible role of exon 2 mutations in menin gene

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by co-occurrence of primary hyperparathyroidism (PH), duodenopancreatic neuroendocrine tumors (DP-NET) and/or pituitary adenomas without an established genotype-phenotype correlation.

Conference:

Presenting Author: Benevento E

Authors: Benevento E, Liccardi A, Minotta R, Cannavale G, Di Iasi G,

Keywords: Multiple endocrine neoplasia type 1 (MEN1), exon two, genomic, primary hyperparathyroidism, duodenopancreatic neuroendocrine tumor, DP-NET, pituitary adenomas,

#3825 Ga-68 DOTA-TOC PET/CT uptake by the parathyroid glands in patients with multiple endocrine neoplasia type 1 (MEN1)

Introduction: Primary hyperparathyroidism (PHPT) is the most common manifestation of MEN1. While Ga-68 DOTA-TOC PET/CT (GaPET) is increasingly used in this cohort for assessment of neuroendocrine tumors (NETs), there are limited data on its utility in assessing parathyroid disease.

Conference:

Presenting Author: Storan D

Authors: Storan D, Flynn S, O'Toole D, Almeamar H, O'Shea D,

Keywords: MEN1, PET CT, Gallium, Parathyroid,

#3662 Nothing but NET? Neuroendocrine tumors in multiple endocrine neoplasia 4

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.

Conference:

Presenting Author:

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

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