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,

#4388 Pancreatic neuroendocrine tumours (pNET) and MUTYH germline (GPV) and somatic (SPV) pathogenic variants: A multinational study

Introduction: GPV and SPV in MUTYH are rare in pNET patients (pts).

Conference:

Presenting Author: Riechelmann R

Authors: Riechelmann R, Torrezan G, Cingarlini S, Raj N, Bergsland E,

Keywords: pancreatic neuroendocrine tumour, MUTYH, germline, pathogenic variants, mutations,

#4385 SDHB-related metastatic paragangliomas treated with capecitabine and temozolomide: Experience of a tertiary centre

Introduction: SDHB pathogenic variants predispose to aggressive and metastatic paragangliomas (mPGLs). International consensus recommends temozolomide treatment (low-grade evidence). Capecitabine and temozolomide (CAPTEM) has shown advantage over temozolomide in the treatment of neuroendocrine tumours (NETs). Evidence for its use in mPGLs remains scarce.

Conference:

Presenting Author: G. Martins R

Authors: Silva L, Martins R, Couto J, Garcia R, Martins Fernandes A,

Keywords: mPGL, SDHB, captem,

#3790 Pancreatic neuroendocrine tumors (pNETs) in French VHL mutation carriers – A nationwide retrospective study with genotype-phenotype correlations

Introduction: Von Hippel-Lindau disease (VHL) is a rare inheritable syndrome predisposing to pancreatic neuroendocrine tumors (pNETs). The natural history of VHL-related pNETs is ill-known.

Conference:

Presenting Author:

Authors: Muller M, Hammel P, Sauvanet A, Couvelard A, Vullierme M,

Keywords: hereditary neoplastic syndrome, von Hippel-Lindau disease, VHL gene, pancreatic neuroendocrine tumor,

#3744 Germline whole-exome sequencing of patients with neuroendocrine neoplasms reveals pathogenic or likely pathogenic variants in a large subset of patients

Introduction: The germline predisposition to neuroendocrine neoplasms (NEN) is not-well understood beyond genetic syndromes associated with MEN1 loss.

Conference:

Presenting Author: Sukrithan V

Authors: Sukrithan V, Boateng I, Jain P, Liyanarachchi S, Buss J,

Keywords: whole exome sequencing, germline, population, mutyh, pkd1, atp4a, pah,