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 (17%), and alterations in, ,, or were identified in 7% of samples. Responses to treatment with the kinase inhibitors sunitinib, everolimus, and pazopanib are presented in conjunction with tumor genomics.

Pattern of loco‐regional relapses and treatment in pediatric esthesioneuroblastoma: The French very rare tumors group (Fracture) contribution

“…This observation may explain the more aggressive biological behavior of ENB during childhood and the poor survival in our series. A recent study found that half of ENBs have clinically relevant genomic alteration, which are identified in different genes such as TP53 , PIK3CA , NF1 , CDKN2A , or CDKN2C . Recently, Classe et al reported an integrative multiomics analysis of ENB identifying two subgroups of ENBs: neural and basal .…”

Esthesioneuroblastoma with distant metastases: Systematic review & meta‐analysis

“…The degree of patient care variation underscores the importance of multi‐institutional participation in prospective single arm or randomized investigation into the best medical management of these patients. Investigation considerations should include targeted therapies, such as sunitinib or cetuximab, as durable responses were demonstrated in recent case studies and there is growing evidence surrounding the genomic profile of refractory esthesioneuroblastoma …”

Integrated Multi-omic Analysis of Esthesioneuroblastomas Identifies Two Subgroups Linked to Cell Ontogeny

“…However, management of aggressive ENBs is challenging, because no targetable oncogenic driver has been identified. Two recent reports analyzed ENB using next-generation targeted sequencing of a panel of cancer genes (Gay et al, 2017;Lazo de la Vega et al, 2017). Although Gay et al (2017) identified TP53 mutations as the most frequent mutation, Lazo de la Vega et al (2017) found no gene to be frequently mutated.…”