Work

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

Year: 2025

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.78618

Authors: Rita Banha, Rute Fernandes, Charalampos S Floudas, Claudia Vieira

Institutions: Hospital do Divino Espírito Santo, IPO Porto, National Institutes of Health, National Cancer Institute, Center for Cancer Research

Language: English

Topic: Head and Neck Surgical Oncology

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4407225120