التفاصيل البيبلوغرافية
| العنوان: |
Multiple Genomic Alterations, Including a Novel AFF4::IRF1 Fusion Gene, in a Treatment-Refractory Blastic Plasmacytoid Dendritic-Cell Neoplasm: A Case Report and Literature Review. |
| المؤلفون: |
Sahin, Yavuz, Wang, Y. Lynn, Pei, Jianming, Mansoor, Nashwa, Styler, Michael, Testa, Joseph R., Nejati, Reza |
| المصدر: |
International Journal of Molecular Sciences; Jan2024, Vol. 25 Issue 1, p305, 9p |
| مصطلحات موضوعية: |
LITERATURE reviews, GENE fusion, SOMATIC mutation, TUMORS, HEMATOLOGIC malignancies |
| مستخلص: |
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy with an aggressive clinical course and poor prognosis. The genetic abnormalities in BPDCN are heterogeneous; therefore, its molecular pathogenesis and the prognostic importance of genomic alterations associated with the disease are not well defined. Here we report a case of BPDCN with a novel AFF4::IRF1 fusion predicted to lead to a loss-of-function of the IRF1 tumor suppressor, somatic mutations of ASXL1, TET2, and MYD88, as well as multiple intrachromosomal deletions. The patient showed resistance to Tagraxofusp and Venetoclax, and he died about 16 months after diagnosis. Considering the predicted effect of the AFF4::IRF1 fusion on IRF1's antitumor effects and immune regulation, and the possibility of its relevance to the aggressive course observed in this case, we propose further evaluation of the clinical significance of this fusion in BPDCN in future cooperative group studies and the consideration of therapeutic strategies aimed at restoring IRF1-dependent antineoplastic effects in such cases. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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