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,

#3231 Minimally invasive cortical sparing adrenal surgery in the treatment of pheochromocytomas in multiple endocrine neoplasia type 2

Introduction: Pheochromocytoma is a neuroendocrine tumor originating from chromaffin cells of the adrenal medulla. Over 30% of pheochromocytomas are associated with mutations in germ line cells including rearranged in transfection mutations observed in multiple endocrine neoplasia type 2 syndromes. MEN2 associated pheochromocytoma is more likely to be bilateral and benign.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: Yiannakopoulou E,

Keywords: pheochromocytoma, adrenal sparing surgery, MEN2,

#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,