Comprehensive Genomic Profiling of Esthesioneuroblastoma Reveals Additional Treatment Options

Abstract

Comprehensive genomic profiling of 41 relapsed or refractory ENBs reveals recurrent alterations or classes of mutation, including amplification of tyrosine kinases encoded on chromosome 5q and mutations affecting genes in the mTOR/PI3K pathway. Approximately half of the ENBs (21, 51%) featured at least one clinically relevant genomic alteration (CRGA), with an average of 1 CRGA per sample. The most commonly altered gene was <i>TP53</i> (17%), and alterations in <i>PIK3CA</i>, <i>NF1</i>, <i>CDKN2A</i>, or <i>CDKN2C</i> were identified in 7% of samples. Responses to treatment with the kinase inhibitors sunitinib, everolimus, and pazopanib are presented in conjunction with tumor genomics.