Diagnostic management of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in close interaction with therapeutic considerations.

Autor: Shumilov E; Department of Medicine A for Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, Germany., Mazzeo P; Clinics of Hematology and Medical Oncology, INDIGHO Laboratory, University Medical Center Goettingen (UMG), Goettingen, Germany., Ghandili S; Department of Oncology, Hematology and Bone Marrow Transplantation With Section Pneumology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Künstner A; Medical Systems Biology Group, Luebeck Institute of Experimental Dermatology, University of Luebeck, Luebeck, Germany., Weidemann S; Institute of Pathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Banz Y; Institute of Pathology, University of Bern, Bern, Switzerland., Ströbel P; Institute of Pathology, University Medical Center Goettingen, Goettingen, Germany., Pollak M; Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kolloch L; Department of Medicine A for Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, Germany., Beltraminelli H; Dermatopathology Department, Ente Ospedaliero Cantonale (EOC), Locarno, Switzerland., Kerkhoff A; Department of Medicine A for Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, Germany., Mikesch JH; Department of Medicine A for Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, Germany., Schliemann C; Department of Medicine A for Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, Germany., Haase D; Clinics of Hematology and Medical Oncology, INDIGHO Laboratory, University Medical Center Goettingen (UMG), Goettingen, Germany., Wulf G; Department of Hematology and Medical Oncology, University Medical Center Goettingen (UMG), Goettingen, Germany., Legros M; Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Lenz G; Department of Medicine A for Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, Germany., Feldmeyer L; Department of Dermatology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Pabst T; Department of Medical Oncology, Bern University Hospital, University of Bern, InselspitalBern, Switzerland., Witte H; Department for Hematology and Oncology, University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.; Department for Hematology and Oncology, Bundeswehrkrankenhaus Ulm, Ulm, Germany., Gebauer N; Department for Hematology and Oncology, University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany., Bacher U; Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. veraulrike.bacher@insel.ch.
Jazyk: angličtina
Zdroj: Annals of hematology [Ann Hematol] 2024 May; Vol. 103 (5), pp. 1587-1599. Date of Electronic Publication: 2024 Jan 09.
DOI: 10.1007/s00277-023-05587-7
Abstrakt: Blastic plasmacytoid dendritic cell neoplasm (BPDCN), a rare malignancy derived from plasmacytoid dendritic cells, can mimic both acute leukemia and aggressive T-cell lymphoma. Therapy of this highly aggressive hematological disease should be initiated as soon as possible, especially in light of novel targeted therapies that have become available. However, differential diagnosis of BPDCN remains challenging. This retrospective study aimed to highlight the challenges to timely diagnoses of BPDCN. We documented the diagnostic and clinical features of 43 BPDCN patients diagnosed at five academic hospitals from 2001-2022. The frequency of BPDCN diagnosis compared to AML was 1:197 cases. The median interval from the first documented clinical manifestation to diagnosis of BPDCN was 3 months. Skin (65%) followed by bone marrow (51%) and blood (45%) involvement represented the most common sites. Immunophenotyping revealed CD4 + , CD45 + , CD56 + , CD123 + , HLA-DR + , and TCL-1 + as the most common surface markers. Overall, 86% (e.g. CD33) and 83% (e.g., CD7) showed co-expression of myeloid and T-cell markers, respectively. In the median, we detected five genomic alterations per case including mutational subtypes typically involved in AML: DNA methylation (70%), signal transduction (46%), splicing factors (38%), chromatin modification (32%), transcription factors (32%), and RAS pathway (30%), respectively. The contribution of patients (30%) proceeding to any form of upfront stem cell transplantation (SCT; autologous or allogeneic) was almost equal resulting in beneficial overall survival rates in those undergoing allogeneic SCT (p = 0.0001). BPDCN is a rare and challenging entity sharing various typical characteristics of other hematological diseases. Comprehensive diagnostics should be initiated timely to ensure appropriate treatment strategies.
(© 2024. The Author(s).)
Databáze: MEDLINE
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