Searchable abstracts of presentations at key conferences in endocrinology

ea0089o3 | Other | NANETS2022

Germline Pathogenic Variants in Patients with High-Grade (G3) Metastatic Gastroenteropancreatic (GEP) Neuroendocrine Neoplasms (NENs)

Moon Farhana , Khuong Le Bryan , Paciorek Alan , Blanco Amie , Wakeling Adrienne , K. Mulvey Claire , Zhang Li , M. Joseph Nancy , Bergsland Emily

Background: The incidence of germline pathogenic/likely pathogenic variants (P/LPV) is relatively well described in low grade well differentiated neuroendocrine tumors (NETs). However, germline findings in G3 NENs including grade 3 NETs (G3NET) and poorly differentiated neuroendocrine carcinoma (NEC) is gravely understudied, and guidance related to germline testing in G3NEN is lacking.Methods: An IRB approved, single institution, retrospective chart revi...

ea0089o8 | Other | NANETS2022

Variants of Uncertain Significance (VUS) are More Common in Non-Caucasian Patients with Neuroendocrine Neoplasms (NENs)

Moon Farhana , Khuong Le Bryan , Paciorek Alan , Blanco Amie , Wakeling Adrienne , K. Mulvey Claire , Nakakura Eric , Zhang Li , M. Joseph Nancy , Bergsland Emily

Background: Germline pathogenic or likely pathogenic (P/LP) variants occur in approximately 10% of NEN patients with recent data suggesting a higher frequency in pancreatic NENs or paraganglioma/pheochromocytoma (PPGL). However, identification of VUS can complicate interpretation of germline results, particularly when diverse populations are under study and the optimal gene panel size for testing remains unclear.Methods: A single-center retrospective cha...