Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive subtype of myeloid malignancy characterized by skin, lymph node and central nervous system (CNS) involvement. Although various regimens are used, a standard therapeutic strategy for BPDCN has not been established. Recent studies revealed that BPDCN patients frequently have a mutation in ZRSR2, which is a minor spliceosome component. However, the association between the clinical features of BPDCN and ZRSR2 mutational status remains unknown. A 70-year-old man was referred to our hospital with skin rash and enlarged lymph nodes, as well as blasts in the peripheral blood. BPDCN was diagnosed based on the immunophenotype of the blasts derived from bone marrow. Whole exome sequencing revealed that BPDCN cells collected at diagnosis had mutations in ZRSR2, ZBTB33, CUL3, TET2 and NRAS. RNA sequencing analysis indicated that U12-type intron retention occurred in LZTR1, caused by ZRSR2 loss. After seven cycles of venetoclax combined with azacitidine therapy, BPDCN cells appeared in the peripheral blood and infiltrated the CNS. Two KRAS mutated clones appeared at BPDCN recurrence. These findings are important for understanding the pathogenesis of BPDCN, which will inform development of novel therapeutic strategies.
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http://dx.doi.org/10.1007/s12185-023-03597-9 | DOI Listing |
Am J Hematol
December 2024
Department of Biological Hematology, Rouen University Hospital, Rouen, France.
Clin Pathol
December 2024
Department of Pathology and Laboratory Medicine, University of California Davis, Sacramento, CA, USA.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive neoplastic process of precursor plasmacytoid dendritic cells. The diagnostic evaluation of this heterogenous entity is challenging, requiring a comprehensive approach of incorporating clinical, morphologic, immunohistochemical, and molecular/cytogenetic evaluations. Optimal management of BPDCN remains controversial, and clinical outcomes continues to be poor.
View Article and Find Full Text PDFHematology Am Soc Hematol Educ Program
December 2024
Department of Leukemia, University of Texas, MD Anderson Cancer Center, Houston, TX.
Ann Diagn Pathol
February 2025
Department of Pathology, Faculty of Basic Medicine, Chongqing Medical University, Chongqing, China; Molecular Medicine Diagnostic and Testing Center, Chongqing Medical University, Chongqing, China; Department of Pathology, the First Affiliated Hospital of Chongqing Medical University, Chongqing, China. Electronic address:
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive lymphohematopoietic malignancy associated with poor prognosis. We aimed to improve the understanding of BPDCN, explore its prognostic significance, and identify potential therapeutic targets. Data from 14 BPDCN patients were retrospectively collected and analyzed, focusing on their clinicopathological characteristics, diagnostic features, immunophenotype, treatment regimens, and prognostic factors.
View Article and Find Full Text PDFCurr Oncol
November 2024
Department of Radiology, Graduate School of Medical Sciences, Kanazawa University, 13-1, Takara-machi, Kanazawa City 920-8641, Japan.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a clinically aggressive hematologic malignancy derived from plasmacytoid dendritic cells. It commonly presents as cutaneous lesions. To date, no standard treatment protocol for BPDCN exists.
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