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,

#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,

#2176 New MENIN Mutation Associated with Familial Isolated Hyperparathyroidism. Clinical Case of Three Young Sisters.

Introduction: The primary hyperparathyroidism (PHPT) is a sporadic disorder in the majority of cases, and only 5-10% of cases are associated with familial syndromes. The following familial syndromes associated with PHPT are known to date: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP). FIHP is defined as hereditary PHPT without the association with other diseases or tumors and may be caused by mutations in MEN1, HRPT2, or CASR genes.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Krupinova K

Authors: Mokrysheva N, Krupinova J, Eremkina A, Tiulpakov A,

Keywords: primary hyperparathyroidism, familial isolated hyperparathyroidism, familial syndromes, MEN1, parathyroid hyperplasia,

#2156 Two Cases Synchronous Atypical Parathyroid Adenomas and Papillary Thyroid Carcinoma

Introduction: A literature review revealed a prevalence of approximately 3% of nonmedullary thyroid cancer, which was found in patients operated on for primary hyperparathyroidism (pHPT). Papillary thyroid carcinomas(PTC) is a malignant epithelial tumour. PTC represent up to 87% of all thyroid carcinomas. Atypical parathyroid adenoma(APA) are a subset of parathyroid neoplasms that exhibit some of the features of parathyroid carcinoma but lack unequivocal invasive growth. APA represents about 0,5-4% of cases of pHPT. As a group, they may be considered tumors of uncertain malignant potential.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author:

Authors: Voronkova I, Mokrysheva N, Lapshina A, Gurevich L, Britvin T,

Keywords: papillary thyroid carcinomas, atypical parathyroid adenoma, primary hyperparathyroidism,