Diagnostic management of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in close interaction with therapeutic considerations
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Diagnostic management of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in close interaction with therapeutic considerations. / Shumilov, Evgenii; Mazzeo, Paolo; Ghandili, Susanne; Künstner, Axel; Weidemann, Sören; Banz, Yara; Ströbel, Philipp; Pollak, Matthias; Kolloch, Lina; Beltraminelli, Helmut; Kerkhoff, Andrea; Mikesch, Jan-Henrik; Schliemann, Christoph; Haase, Detlef; Wulf, Gerald; Legros, Myriam; Lenz, Georg; Feldmeyer, Laurence; Pabst, Thomas; Witte, Hanno; Gebauer, Niklas; Bacher, Ulrike.
In: ANN HEMATOL, Vol. 103, No. 5, 05.2024, p. 1587-1599.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Diagnostic management of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in close interaction with therapeutic considerations
AU - Shumilov, Evgenii
AU - Mazzeo, Paolo
AU - Ghandili, Susanne
AU - Künstner, Axel
AU - Weidemann, Sören
AU - Banz, Yara
AU - Ströbel, Philipp
AU - Pollak, Matthias
AU - Kolloch, Lina
AU - Beltraminelli, Helmut
AU - Kerkhoff, Andrea
AU - Mikesch, Jan-Henrik
AU - Schliemann, Christoph
AU - Haase, Detlef
AU - Wulf, Gerald
AU - Legros, Myriam
AU - Lenz, Georg
AU - Feldmeyer, Laurence
AU - Pabst, Thomas
AU - Witte, Hanno
AU - Gebauer, Niklas
AU - Bacher, Ulrike
N1 - © 2024. The Author(s).
PY - 2024/5
Y1 - 2024/5
N2 - 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.
AB - 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.
KW - Humans
KW - Retrospective Studies
KW - Leukemia, Myeloid, Acute/pathology
KW - Bone Marrow/pathology
KW - HLA-DR Antigens
KW - Myeloproliferative Disorders/pathology
KW - Skin Neoplasms/diagnosis
KW - Dendritic Cells/pathology
KW - Hematologic Neoplasms/diagnosis
U2 - 10.1007/s00277-023-05587-7
DO - 10.1007/s00277-023-05587-7
M3 - SCORING: Journal article
C2 - 38194088
VL - 103
SP - 1587
EP - 1599
JO - ANN HEMATOL
JF - ANN HEMATOL
SN - 0939-5555
IS - 5
ER -
