# Isocitrate Dehydrogenase 2 (IDH2)-Mutant Metastatic Esthesioneuroblastoma: A Case Report and Review of Current Therapeutic Options

## TL;DR

A 37-year-old man with metastatic esthesioneuroblastoma had an IDH2 mutation identified, prompting exploration of targeted therapies as traditional treatments failed.

## Contribution

The paper introduces the potential of IDH2-targeted therapy as a novel treatment option for metastatic esthesioneuroblastoma.

## Key findings

- The patient's disease progressed despite standard chemoradiotherapy.
- NGS identified an IDH2 mutation, suggesting a possible target for therapy.
- Targeted therapy is proposed as a new approach for advanced esthesioneuroblastoma.

## Abstract

Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the nasal cavity. The clinical course is heterogeneous and, currently, there is no consensus regarding the correct management of this disease. We present the case of a 37-year-old man with a diagnosis of an ENB, progressing, two years after radical treatment with surgery and chemoradiotherapy, with spinal and leptomeningeal metastasis. He underwent palliative radiotherapy directed to the sacral thecal sac lesion and chemotherapy with platinum and etoposide, however, with disease progression. Next-generation sequencing (NGS) revealed an isocitrate dehydrogenase 2 (IDH2) mutation. Thus, an effort was made to initiate therapy targeting the mutation found. Given that chemotherapy has a limited role in the advanced disease setting, we aim to discuss novel treatment options, such as targeted therapy.