Searchable abstracts of presentations at key conferences in endocrinology

ea0098c50 | Clinical – Surgery/Applied Pathology | NANETS2023

Phenotype Genotype Correlation in Multiple Endocrine Neoplasia Type 1

Worthy Charlita , Vikram Nayan U. , Tora Rana , Welch James , Ninan Anisha , Bliss Lynn , Cochran Craig , S Weinstein Lee , Simonds William F. , Blau Jenny E. , Agarwal Sunita K. , Jha Smita

Background: The presence of a genotype-phenotype correlation in patients with MEN1 remains controversial with conflicting data from different centers. Furthermore, about 10-30% patients have genotype-negative (GN)-MEN1. Here, we evaluate the presence of genotype-phenotype correlation in our cohort of comprehensively phenotyped patients with MEN1. In addition, we compare the phenotype of GN-MEN1 and genotype-positive (GP)-MEN1 patients and investigate somatic mosaicism as a cau...