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,

#4125 Durvalumab (D) plus Tremelimumab (T) for the treatment of patients with progressive, advanced medullary thyroid carcinoma (MTC) – DUTHY (GETNE-T1812) trial

Introduction: Evidence for immunotherapy (IT) in patients (pts) with MTC is limited and has shown modest activity.

Conference:

Presenting Author:

Authors: García-Álvarez A, Molina-Cerrillo J, Castelo B, Plana M, Iglesias L,

Keywords: Medullary thyroid carcinoma, Immunotherapy, durvalumab, tremelimumab, anti PD-L1, anti CTLA-4,

#3797 Evaluation of neutrophile to lymphocyte and platelet to lymphocyte ratio in patients with medullary thyroid cancer (MTC)

Introduction: Medullary thyroid cancer (MTC) is a rare neoplasm in which the investigation of new biomarkers is essential. An elevated neutrophile to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) has been proposed as a negative prognostic factor in several neoplasms, but their role in MTC is unclear.

Conference:

Presenting Author:

Authors: Minotta R, Liccardi A, Cannavale G, Benevento E, Modica R,

Keywords: neuroendocrine tumor, biomarker, medullary thyroid carcinoma, mtc, nlr, plr,

#3764 Therapeutic response of ACTH-dependent ectopic Cushing's syndrome to low doses of osilodrostat

Introduction: Cushing's disease (CD) is the main cause of ACTH-dependent Cushing's syndrome (ACTH-CS). In 5–15% of cases, ACTH/CRH production is ectopic and is caused by neuroendocrine tumors of the lung, thymus, or pancreas, medullary thyroid carcinoma, and pheochromocytoma. Diagnostic imaging can locate the primary tumor; however, between 8-22% the cause is unknown. The FDA approved Osilodrostat for the treatment of inoperable or refractory CD, its use in high doses in patients with ectopic CS has been reported.

Conference:

Presenting Author:

Authors: González Devia D, Florez-Romero A, Rojas-Camacho J, Herrera Almario G, Jimenez Hakim E,

Keywords: ACTH-dependent Cushing's syndrome, Osilodrostat, Adrenal steroidogenesis inhibitors, Ectopic ACTH Cushing´s syndrome,