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

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Tác giả: Rita Banha, Rute Fernandes, Charalampos S Floudas, Claudia Vieira

Ngôn ngữ: eng

Ký hiệu phân loại: 025.3436 Bibliographic analysis and control

Thông tin xuất bản: United States : Cureus , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 684172

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.
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