Abstract Library

#2813 Clinical Presentation and Prognosis of Patients with Medullary Thyroid Cancer

Introduction: Medullary thyroid carcinoma (MTC) is a rare type of tumor that originates from parafollicular C-cells and accounts for 3–4% of all malignant thyroid neoplasms. MTC presents as sporadic (75–80%) or inherited tumors (20–25%). Hereditary MTC is part of multiple endocrine neoplasia type 2 (MEN2).

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author:

Authors: de Cicco F, Modica R, Barba L, Bottiglieri F, Minotta R,

Keywords: Medullary thyroid carcinoma, natural history, treatment, prognosis,

#2732 Prostate Metastasis of Medullary Thyroid Carcinoma in a Young Patient with MEN2B Syndrome

Introduction: Multiple Endocrine Neoplasia 2B is associated with particularly early onset medullary thyroid carcinoma (MTC). Metastatic MTC is the leading cause of early death in MEN2B. The usual sites of metastasis are neck, mediastinum, lung, liver, bone and brain.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Noble J

Authors: Noble J, Forde H, Crowley R,

Keywords: Neuroendocrine, MEN2B, Medullary Thyroid Cancer, Prostate Metastasis, Calcitonin, 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,

#2000 A Case of Multiple Endocrine Neoplasia Type 2B（MEN2B）

Introduction: Familial neuroendocrine neoplasms (NENs) accounts for less than 5% of NENs and multiple endocrine neoplasia type 2B (MEN2B) is a kind of rare familial NENs.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Zhang Y

Authors: Zhang Y, Chen L, Chen M, Chen J,

Keywords: multiple endocrine neoplasia type 2B, medullary thyroid carcinoma, diagnosis, treatment,

#1329 The MEN2B Due to de Novo Mutation M918T at Algiers

Introduction: The MEN2B, or Gorlin syndrome is a very rare disorder where there are a medullary cancer of thyroide associated with pheochromocytoma and other clinical signs such as a ganglion – neuromatose or a Marfan syndrome. The MEN2B belongs MEN2 are rare hereditary disease, transmitted as an autosomal dominant mutations linked to the RET proto-oncogene.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author:

Authors: Chikouche A,

Keywords: MEN2B, de novo mutation, genotypic analysis,