Article
Medicine, General & Internal
Li Zhang, Yidong Wang, Mingming Lu, Mengdan Shen, Zhao Duan
Summary: This study presents a case of a 37-year-old pregnant woman with Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN). It suggests that pregnant women diagnosed with BPDCN in the third trimester should promptly terminate the pregnancy for further treatment.
Article
Oncology
Wei Wang, Jie Xu, Joseph D. Khoury, Naveen Pemmaraju, Hong Fang, Roberto N. Miranda, C. Cameron Yin, Siba El Hussein, Fuli Jia, Zhenya Tang, Shimin Hu, Marina Konopleva, L. Jeffrey Medeiros, Sa A. Wang
Summary: This study investigated the immunophenotypic and molecular profiles of pDC-AML and BPDCN and found that they have different phenotypes and mutation profiles, indicating that they are two distinct entities.
Article
Medical Laboratory Technology
Xiaofang Zhang, Yiping Wu, Chen Li, Keming Shen, Ruimin Li
Summary: The aim of this study was to investigate the clinical characteristics and diagnosis of acute myeloid leukemia with CD56- blastic plasmacytoid dendritic cell neoplasm. Three cases of elderly men with acute myeloid leukemia were analyzed retrospectively, and their bone marrow features suggested the diagnosis of acute myeloid leukemia with blastic plasmacytoid dendritic cell neoplasm. Flow cytometry and second generation sequencing were performed to detect abnormalities in myeloid cells and abnormal plasmacytoid dendritic cells, as well as gene mutations in RUNX1 and DNMT3A.
CLINICAL LABORATORY
(2023)
Article
Medicine, General & Internal
Yasuhiro Nagate, Aya Nakaya, Ren Kamimura, Yumiko Hirose, Satoshi Nojima, Jiro Fujita, Eiji Kiyohara, Hirohiko Shibayama
Summary: An 84-year-old Japanese man with BPDCN was treated with a combination of venetoclax and azacytidine. Despite experiencing adverse events like neutropenia (Grade 4), thrombocytopenia (Grade 2), and stomatitis (Grade 3), significant improvements were observed after six cycles of treatment. Venetoclax combined with azacytidine is suggested as a useful treatment approach in elderly patients, with careful monitoring and potential modifications to minimize adverse events.
Article
Oncology
C. Camero Yin, Naveen Pemmaraju, M. James You, Shaoying Li, Jie Xu, Wei Wang, Zhenya Tang, Omar Alswailmi, Kapil N. Bhalla, Muzaffar H. Qazilbash, Marina Konopleva, Joseph D. Khoury
Summary: Mutation and protein-level profiling have expanded our understanding of the pathogenesis of blastic plasmacytoid dendritic cell neoplasm (BPDCN), revealing a high prevalence of somatic mutations involving epigenetic regulators and RNA splicing factors, along with frequent mutations in genes such as ETV6 and IKZF1. Older age, multiple mutations, and mutations in the DNA methylation pathway are poor prognostic factors in BPDCN patients.
Article
Oncology
Peter-Martin Bruch, Sascha Dietrich, Herve Finel, Ariane Boumendil, Hildegard Greinix, Thomas Heinicke, Wolfgang Bethge, Dietrich Beelen, Christoph Schmid, Hans Martin, Luca Castagna, Christof Scheid, Kerstin Schaefer-Eckart, Joerg Bittenbring, Juergen Finke, Henrik Sengeloev, Mael Heiblig, Jan Cornelissen, Patrice Chevallier, Mohamad Mohty, Stephen Robinson, Silvia Montoto, Peter Dreger
Summary: This retrospective study analyzed the outcomes of 162 adult patients with BPDCN who underwent a first HCT. The study found that MAC (especially TBI-based) significantly improved the prognosis of alloHCT recipients, and autoHCT could be considered for patients who are not eligible for MAC.
Review
Medicine, General & Internal
Hyo-jae Lee, Hye Mi Park, So Yeon Ki, Yoo-Duk Choi, Sook Jung Yun, Hyo Soon Lim
Summary: This case describes a rare presentation of BPDCN in the breast parenchyma, with no previous reports on the radiologic features of the disease within breast tissue. The patient was diagnosed using diagnostic breast imaging tools and underwent chemotherapy with peripheral blood stem cell transplantation, achieving complete remission.
Article
Medicine, General & Internal
Diego Molina Castro, Oliver Perilla Suarez, Jorge Cuervo-Sierra, Alexandra Moreno
Summary: Blastic plasmacytoid dendritic cell neoplasm is a rare hematologic neoplasm with cutaneous, hematologic, and central nervous system involvement. Diagnosis is challenging, and the first-line therapy includes acute lymphoid leukemia-type schemes and allogeneic transplant. New therapies targeting CD 123 and Bcl-2 have shown promise in improving patient survival.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Pathology
Luisa Lorenzi, Silvia Lonardi, Donatella Vairo, Andrea Bernardelli, Michela Tomaselli, Mattia Bugatti, Sara Licini, Mariachiara Arisi, Lorenzo Cerroni, Alessandra Tucci, William Vermi, Silvia Clara Giliani, Fabio Facchetti
Summary: This study identifies EC as a novel pDC marker of diagnostic relevance in BPDCN. The results suggest a scenario where malignant pDCs promote the blunting of IFN-I signaling through EC-driven signaling, leading to a poorly immunogenic tumor microenvironment.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Review
Oncology
Hongyan Liao, Jiang Yu, Yu Liu, Sha Zhao, Huanling Zhu, Dongsheng Xu, Nenggang Jiang, Qin Zheng
Summary: This case demonstrates for the first time that prominent pDC proliferation can be associated with lymphoid neoplasms and can exhibit blastic morphology and immunophenotype. The underlying mechanism of the coexistence of these two blastic populations remains unknown.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2022)
Review
Medicine, General & Internal
Nil Albiol, Silvana Novelli, Anna Mozos, Marta Pratcorona, Rodrigo Martino, Jorge Sierra
Summary: This case report describes a patient with blastic plasmacytoid dendritic cell neoplasm involving the central nervous system, treated with venetoclax. Despite initial response, the disease progressed ultimately leading to fatal outcomes. Further investigations into alternative treatments are warranted for patients with CNS involvement.
JOURNAL OF MEDICAL CASE REPORTS
(2021)
Article
Hematology
Corinn Small, Soham Mukerjee, Diwash Jangam, Sumanth Gollapudi, Kunwar Singh, David L. Jaye, Phyu P. Aung, Christiane Querfeld, Keluo Yao, Karen M. Chisholm, Sheeja Pullarkat, Sa Wang, Alejandro Gru, Mohammad Hussaini, Tracy I. George, Robert S. Ohgami
Summary: In this study, the exome sequence data of 9 BPDCN cases were analyzed. Results showed significant genetic changes related to tobacco exposure, aging, nucleotide excision repair deficiency, UV exposure, and endogenous deamination. These findings suggest that environmental and endogenous genetic changes may play a central role in the oncogenesis of BPDCN.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2023)
Article
Medicine, Research & Experimental
Wei Cheng, Tian-tian Yu, Ai-ping Tang, Ken He Young, Li Yu
Summary: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy derived from plasmacytoid dendritic cells with unclear pathogenesis. Treatment is based on leukemia or lymphoma experience, relapse is quick with drug resistance.
CURRENT MEDICAL SCIENCE
(2021)
Article
Public, Environmental & Occupational Health
Faisal A. A. Nawaz, Mehr Muhamad Adeel Riaz, Christos Tsagkaris, Umme H. H. Faisal, Elisabeth Klager, Maria Kletecka-Pulker, Oliver Kimberger, Harald Willschke, Nagina Khan, Meshal A. A. Sultan, Atanas G. G. Atanasov
Summary: This study evaluates the impact of tweets related to psychiatry using the hashtag #PsychTwitter. The results show that #PsychTwitter generated 125,297 tweets shared by 40,058 Twitter users, with a total of 492,565,230 impressions. The most active contributors were doctors, advocacy organizations, and researchers/academics. The top countries for tweets with #PsychTwitter were the United States, the United Kingdom, Canada, India, and Australia, indicating that Twitter is a widely used platform for mental health discussions.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Dermatology
Ying Zhang, Jingshu Xiong, Siqi Li, Yan Li, Xuebao Shao, Wei Zhang, Xiulian Xu, Yiqun Jiang, Jianfang Sun, Hao Chen
Summary: This retrospective study aims to characterize the clinical, histopathological, and immunophenotypic features of BPDCN with cutaneous involvement. The results showed that the morphological and phenotypic features of cutaneous BPDCN are heterogeneous. Notably, E2-2 may serve as a useful marker to definitively diagnose BPDCN.
EUROPEAN JOURNAL OF DERMATOLOGY
(2022)
Article
Hematology
Praveen Anand, Amy Guillaumet-Adkins, Valeriya Dimitrova, Huiyoung Yun, Yotam Drier, Noori Sotudeh, Anna Rogers, Madhu M. Ouseph, Monica Nair, Sayalee Potdar, Randi Isenhart, Jake A. Kloeber, Tushara Vijaykumar, Leili Niu, Tiffaney Vincent, Guangwu Guo, Julia Frede, Marian H. Harris, Andrew E. Place, Lewis B. Silverman, David T. Teachey, Andrew A. Lane, Daniel J. DeAngelo, Jon C. Aster, Bradley E. Bernstein, Jens G. Lohr, Birgit Knoechel
Summary: By conducting full-length single-cell RNA sequencing, we identified two highly distinct stem-like states in early T-cell progenitor acute lymphoblastic leukemia (ETP-ALL), which differed significantly in terms of cell cycle and oncogenic signaling, as well as dependence on Notch activation and PI3K signaling. Our study revealed complex interactions between signaling programs, cellular plasticity, and immune programs in ETP-ALL, highlighting the multidimensionality of tumor heterogeneity.
Article
Oncology
Katsuhiro Togami, Sun Sook Chung, Vikas Madan, Christopher A. G. Booth, Christopher M. Kenyon, Lucia Cabal-Hierro, Justin Taylor, Sunhee S. Kim, Gabriel K. Griffin, Mahmoud Ghandi, Jia Li, Yvonne Y. Li, Fanny Angelot-Delettre, Sabeha Biichle, Michael Seiler, Silvia Buonamici, Scott B. Lovitch, Abner Louissaint, Elizabeth A. Morgan, Fabrice Jardin, Pier Paolo Piccaluga, David M. Weinstock, Peter S. Hammerman, Henry Yang, Marina Konopleva, Naveen Pemmaraju, Francine Garnache-Ottou, Omar Abdel-Wahab, H. Phillip Koeffler, Andrew A. Lane
Summary: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive leukemia primarily occurring in males, and the mutations in X chromosome gene ZRSR2 are associated with impaired dendritic cell function and predisposition to leukemic transformation.
Article
Cell Biology
Adrien Grenier, Laury Poulain, Johanna Mondesir, Arnaud Jacquel, Claudie Bosc, Lucille Stuani, Sarah Mouche, Clement Larrue, Ambrine Sahal, Rudy Birsen, Victoria Ghesquier, Justine Decroocq, Fetta Mazed, Mireille Lambert, Mamy Andrianteranagna, Benoit Viollet, Patrick Auberger, Andrew A. Lane, Pierre Sujobert, Didier Bouscary, Jean-Emmanuel Sarry, Jerome Tamburini
Summary: AMPK activation in AML cells triggers the unfolded protein response, leading to repression of oxidative phosphorylation, TCA cycle, and pyrimidine biosynthesis, as well as enhanced mitochondrial apoptotic signaling. Combination therapy with the AMPK activator GSK621 and the Bcl-2 inhibitor venetoclax shows synergistic effects, suggesting therapeutic potential in AML.
Article
Dermatology
Cecilia Larocca, Vignesh Shanmugam, David Zemmour, Joseph H. H. Antin, Andrew A. A. Lane
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2022)
Article
Oncology
Evan C. Chen, Yiwen Liu, Courtney E. Harris, Eric S. Winer, Martha Wadleigh, Andrew A. Lane, Rahul S. Vedula, R. Coleman Lindsley, Kevin M. Copson, Anne Charles, Francisco Marty, Donna Neuberg, Daniel J. DeAngelo, Richard M. Stone, Marlise R. Luskin, Nicolas C. Issa, Jacqueline S. Garcia
Summary: The use of antifungal prophylaxis does not appear to provide benefits for newly diagnosed AML patients receiving VEN/HMA treatment, especially in institutions with low incidence of fungal infections.
LEUKEMIA & LYMPHOMA
(2022)
Article
Biotechnology & Applied Microbiology
Tyler E. Miller, Caleb A. Lareau, Julia A. Verga, Erica A. K. DePasquale, Vincent Liu, Daniel Ssozi, Katalin Sandor, Yajie Yin, Leif S. Ludwig, Chadi A. El Farran, Duncan M. Morgan, Ansuman T. Satpathy, Gabriel K. Griffin, Andrew A. Lane, J. Christopher Love, Bradley E. Bernstein, Vijay G. Sankaran, Peter van Galen
Summary: The combination of single-cell transcriptomics and mitochondrial DNA variant detection is useful for establishing lineage relationships in primary human cells, but current methods are not suitable for analyzing complex tissues. In this study, researchers combined common 3' single-cell RNA-sequencing protocols with mitochondrial transcriptome enrichment to significantly increase coverage and enable high-confidence mutation detection. This method successfully identified skewed immune cell expansions in primary human clonal hematopoiesis.
NATURE BIOTECHNOLOGY
(2022)
Article
Multidisciplinary Sciences
Tianyu Cai, Agnes Gouble, Kathryn L. Black, Anna Skwarska, Ammar S. Naqvi, Deanne Taylor, Ming Zhao, Qi Yuan, Mayumi Sugita, Qi Zhang, Roman Galetto, Stephanie Filipe, Antonio Cavazos, Lina Han, Vinitha Kuruvilla, Helen Ma, Connie Weng, Chang-Gong Liu, Xiuping Liu, Sergej Konoplev, Jun Gu, Guilin Tang, Xiaoping Su, Gheath Al-Atrash, Stefan Ciurea, Sattva S. Neelapu, Andrew A. Lane, Hagop Kantarjian, Monica L. Guzman, Naveen Pemmaraju, Julianne Smith, Andrei Thomas-Tikhonenko, Marina Konopleva
Summary: This study demonstrates that UCART123 has selective anti-tumor activity against CD123-positive BPDCN cells, and exhibits strong efficacy in vitro and in mouse models.
NATURE COMMUNICATIONS
(2022)
Article
Immunology
Erica A. K. DePasquale, Daniel Ssozi, Marina Ainciburu, Jonathan Good, Jenny Noel, Martin A. Villanueva, Charles P. Couturier, Alex K. Shalek, Sary F. Aranki, Hari R. Mallidi, Gabriel K. Griffin, Andrew A. Lane, Peter van Galen
Summary: The immune system plays a major role in inhibiting cancer progression, and the study of immunoregulatory interactions between malignant cells and T-cells in BPDCN provides valuable insights. By analyzing single-cell transcriptomes, it was observed that T-cells in BPDCN patients upregulate IFNA response and downregulate TNFA pathways, indicating T-cell exhaustion and immune evasion mechanisms in BPDCN.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Oncology
Elodie Bole-Richard, Naveen Pemmaraju, Blandine Cael, Etienne Daguindau, Andrew A. Lane
Summary: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive leukemia derived from plasmacytoid dendritic cells (pDCs). Recently, the first-in-class CD123-targeting therapy, tagraxofusp, was approved for treatment of BPDCN. Other CD123-targeting strategies are in development, including bispecific antibodies and combination approaches with tagraxofusp and other novel agents. Adoptive T-cell therapy using chimeric antigen receptor (CAR)-modified T cells represents a promising new avenue in immunotherapy. This article discusses novel and innovative therapies in development to target surface molecules in BPDCN and explores potential future treatment options.
Article
Hematology
Geoffrey Fell, Ashley E. Rosko, Gregory A. Abel, Clark Dumontier, Kelly J. Higby, Anays Murillo, Donna S. Neuberg, Christin E. Burd, Andrew A. Lane
Summary: Older patients with cancer may benefit from targeted treatment based on their frailty status, but currently there is a lack of quantitative biomarkers for assessing frailty. In this study, researchers identified four gene expressions in T cells that were associated with frailty in patients with haematological malignancies. A regression model based on these gene expressions showed high sensitivity and specificity for identifying robust patients. These findings suggest potential biomarkers for future frailty assessment.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Oncology
Naveen Pemmaraju, Kendra L. Sweet, Anthony S. Stein, Eunice S. Wang, David A. Rizzieri, Sumithira Vasu, Todd L. Rosenblat, Christopher L. Brooks, Nassir Habboubi, Tariq Mughal, Hagop Kantarjian, Marina Konopleva, Andrew A. Lane
Summary: In this article, the long-term results of a clinical trial for BPDCN, including treatment-naive and relapsed/refractory patients, were reported. The study showed that TAG monotherapy resulted in high and durable responses in first-line patients with BPDCN, allowing many patients to bridge to stem-cell transplant.
JOURNAL OF CLINICAL ONCOLOGY
(2022)
Letter
Oncology
James A. Davis, David A. Rizzieri, Andrew A. Lane, Justin Taylor, Muhammad Salman Faisal, Sumithira Vasu, Deborah Soong, Hong Li, Amanda Herbst, I. Brian Greenwell
LEUKEMIA & LYMPHOMA
(2022)
Letter
Hematology
Esther Rheinbay, Meifang Qi, Juliette M. Bouyssou, Andrew J. Oler, Lauren Thumm, Michelle Makiya, Irina Maric, Amy D. Klion, Andrew A. Lane
Editorial Material
Hematology
Christopher R. Reilly, Andrew A. Lane
Summary: In this study, Cheloor Kovilakam et al conducted a comprehensive population-level analysis of >450,000 adults in the UK Biobank to assess the epidemiological characteristics, clinical features, and malignancy risk associated with germ line pathogenic variants in the DEAD box RNA helicase 41 gene (DDX41-GPV).
Article
Medicine, Research & Experimental
Roman M. Shapiro, Grace C. Birch, Guangan Hu, Juliana Vergara Cadavid, Sarah Nikiforow, Joanna Baginska, Alaa K. Ali, Mubin Tarannum, Michal Sheffer, Yasmin Z. Abdulhamid, Benedetta Rambaldi, Yohei Arihara, Carol Reynolds, Max S. Halpern, Scott J. Rodig, Nicole Cullen, Jacquelyn O. Wolff, Kathleen L. Pfaff, Andrew A. Lane, R. Coleman Lindsley, Corey S. Cutler, Joseph H. Antin, Vincent T. Ho, John Koreth, Mahasweta Gooptu, Haesook T. Kim, Karl-Johan Malmberg, Catherine J. Wu, Jianzhu Chen, Robert J. Soiffer, Jerome Ritz, Rizwan Romee
JOURNAL OF CLINICAL INVESTIGATION
(2022)