Abstract Library

#3298 Adrenocortical carcinoma in the context of MEN1 patients with pNETS: From suspicion to diagnosis, management and follow-up

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy arising from adrenal parenchymal cells. Multiple endocrine neoplasia type 1 is an autosomal inherited predisposition cancer syndrome characterized by parathyroid hyperplasia, anterior pituitary gland tumors and pancreatic islet tumors. Although adrenal involvement in MEN1 patients has been reported in about 40% of patients, the incidence of ACC has been reported to range between 1,4% and 6% in MEN1.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: Yiannakopoulou E,

Keywords: MEN1, pNETs, adrenocortical carcinoma,

#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,