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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http://dx.doi.org/10.7759/cureus.78618 | DOI Listing |
J Struct Biol
March 2025
School of Life Science and Biotechnology, KNU Creative BioResearch Group, Kyungpook National University, Daegu 41566, Republic of Korea. Electronic address:
NADP-dependent cytosolic isocitrate dehydrogenase (IDH1) plays a crucial role in providing reducing energy in response to oxidative stress through the oxidative decarboxylation of isocitrate. NADPH generated by IDH1 serves as an essential cofactor for fatty acid synthesis. The regulation of IDH1 activity is vital for the biological functions of NADPH within cells, and mutations in IDH1 have been implicated in various cancers.
View Article and Find Full Text PDFCureus
February 2025
Medical Oncology, Instituto Português De Oncologia, Porto, PRT.
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.
View Article and Find Full Text PDFNon-canonical roles for growth factors in the nucleus have been previously described, but their mechanism of action and biological roles remain enigmatic. Platelet-derived growth factor B (PDGFB) can drive formation of low-grade glioma and here we show that it localizes to the nucleus of human glioma cells where it binds chromatin to preserve genome stability and cell lineage. Failure of PDGFB to localize to the nucleus leads to chromosomal abnormalities, aberrant heterochromatin architecture and accelerated tumorigenesis.
View Article and Find Full Text PDFTransplant Cell Ther
March 2025
Department of Hematology and Stem Cell Transplantation, West German Cancer Center Essen, University Hospital Essen, Essen, Germany.
Mutations in isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) are found in 15% to 20% of patients with acute myeloid leukemia (AML). IDH inhibitors have been introduced as targeted treatment and are currently under investigation as maintenance therapy after allogeneic transplantation (allo-SCT). Since reports about the outcome of IDH1- and IDH2-mutated (IDHmut) AML after allo-SCT are limited, we retrospectively analyzed 356 IDH-mutated AML patients (IDH1 40%, IDH2 60%).
View Article and Find Full Text PDFJ Neuroimmunol
March 2025
Department of Neurosurgery, Guigang City People's Hospital, Gangbei District, Guigang 537100, PR China. Electronic address:
Background: The current understanding of glioma pathogenesis is limited by the lack of comprehensive insights into the metabolic reprogramming associated with isocitrate dehydrogenase (IDH) mutations. This study aims to contribute a step to this gap by investigating the role of energy metabolism-related genes in glioma. Our objective is to identify key molecular markers that could serve as prognostic markers and potential therapeutic targets for more effective treatment strategies in IDH-mutant glioma patients.
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