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,

#4317 Late diagnosis of MEN2A syndrome: Ten cases in one family

Introduction: Multiple endocrine neoplasia type 2 (MEN2) constitutes a rare hereditary cancer syndrome affecting various endocrine glands.

Conference:

Presenting Author:

Authors: Asanova A, Shutova A, Dzeranova L, Przhiyalkovskaya E, Pigarova E,

Keywords: MEN2A, RET, MTC, THYROIDECTOMY,

#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,

#4149 A case of multiple endocrine neoplasia type 1 (MEN1) phenotype caused by CDC73 mutation

Introduction: CDC73 gene, also known as HRPT2 gene, its related diseases (CDC73-Related Disorders) mainly include hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid adenocarcinoma, familial isolated hyperparathyroidism (FIHP), which is autosomal dominant inheritance.

Conference:

Presenting Author: Tan H

Authors: Tan H, Chi Y,

Keywords: CDC73, HPT-JT, PNET, phenotype,

#4074 Clinical, genetic and histopathological characterisation of patients with multiple endocrine neoplasia type 1 in two high complexity hospitals in Medellín, Colombia

Introduction: Limited observational data exist regarding the characterization of patients with Multiple Endocrine Neoplasia Type 1 (MEN-1) in Latin America, particularly in Colombia. This scarcity has led to a reliance on studies that may not precisely depict the actual behaviour of the disease within the population.

Conference:

Presenting Author:

Authors: Roman-Gonzalez A, Gil-Gonzalez M, Pérez-Giraldo E, Agredo Delgado V, Lopez-Montoya V,

Keywords: multiple endocrine neoplasia type 1, neuroendocrine tumor, acromegaly, cushing disease, hyperparathyroidism,