Letter
Oncology
Ruth-Miriam Koerber, Stefanie A. E. Held, Maria Vonnahme, Georg Feldmann, Joerg Wenzel, Ines Guetgemann, Peter Brossart, Annkristin Heine
Summary: Blastic plasmacytoid dendritic-cell neoplasm (BPDCN) is an extremely rare disease with origins in dendritic cells, posing challenges in both diagnosis and treatment. It is difficult to distinguish from other leukemic conditions and lacks clear therapeutic standards.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2022)
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)
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.
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
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, 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
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, 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.
Review
Hematology
Siba El Hussein, Wei Wang
Summary: In this article, three pathologic presentations of plasmacytoid dendritic cells (pDCs) associated with myeloid neoplasms are described. These include mature pDC expansion in myeloid neoplasms such as chronic myelomonocytic leukaemia (CMML), pDC differentiation in myeloid neoplasms such as acute myeloid leukaemia (AML), and myeloid neoplasms associated with blastic plasmacytoid dendritic cell neoplasm (BPDCN). A diagnostic algorithm for pathologic classification and clarification of nomenclatures pertaining to pDC biological states is provided.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
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
Pathology
Kenon Chua, David M. Virshup, Eugene G. Odono, Kenneth Tou En Chang, Nicholas Jin Hong Tan, Susan Swee-Shan Hue, Arthur Yi Loong Sim, Victor Kwan Min Lee
Summary: The study evaluated WLS expression in bone and soft tissue tumours using the YJ5 antibody, finding strong YJ5 immunoreactivity in almost all osteosarcomas, chondroblastomas, osteoblastomas, and osteoid osteomas. This marker may be useful in determining the osteogenic lineage in malignant bone tumours, especially in distinguishing osteosarcomas with unusual features.
Review
Medicine, General & Internal
Yemin Wang, Li Xiao, Lili Yin, Lv Zhou, Yanjuan Deng, Huan Deng
Summary: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic disease involving the skin and bone marrow. The immunophenotype of BPDCN is characterized by the expression of CD4, CD56, CD123, TCL-1, and CD303. Current treatment for BPDCN is based on high-dose chemotherapy combined with stem cell transplantation, but targeted therapies have shown great promise. This article focuses on the latest advances in genetics and targeted therapies for BPDCN, providing new ideas for its clinical treatment.
Article
Pathology
Xin Zhang, Jing Han, Na Zhu, Yuan Ji, Yingyong Hou
Summary: This case report describes a rare case of systemic mastocytosis with aggressive involvement of the gastrointestinal tract. The patient exhibited symptoms of long-term abdominal discomfort and diarrhea, and was successfully treated with avapritinib, resulting in significant clinical improvement.
DIAGNOSTIC PATHOLOGY
(2023)
Article
Oncology
Sonia Gonzalez de Villambrosia, Mariana Bastos, Javier Menarguez Palanca, Jorge Gayoso Cruz, Jose-Tomas Navarro, Gustavo Tapia, Sara Alvarez Alonso, Alejandro Martin, Oscar Blanco, Pau Abrisqueta, Josep Castellvi, Ana Garcia-Noblejas, Reyes Arranz, Magdalena Adrados, Andres Lopez, Santiago Montes-Moreno
Summary: High Grade B Cell Lymphoma, NOS and High Grade B Cell Lymphoma with Dual Hit or Triple Hit were recently reclassified in the 2016 WHO classification. This study found that HGBCL NOS had better response to first line treatment compared to HGBCL with DH/TH, and only the presence of BCL2 translocation significantly affected PFS. Other clinical features were similar between the two categories, and both high grade and DLBCL morphological patterns showed equivalent PFS and OS.
LEUKEMIA & LYMPHOMA
(2022)
Article
Oncology
Joaquim Carreras, Yara Yukie Kikuti, Shinichiro Hiraiwa, Masashi Miyaoka, Sakura Tomita, Haruka Ikoma, Atsushi Ito, Yusuke Kondo, Johbu Itoh, Giovanna Roncador, Antonio Martinez, Lluis Colomo, Rifat Hamoudi, Kiyoshi Ando, Naoya Nakamura
Summary: Tumor-associated macrophages (TAMs) are associated with poor prognosis in diffuse large B-cell lymphoma (DLBCL). Different infiltration patterns of macrophages in the tumor microenvironment are correlated with survival outcomes, with high M2c-like macrophage infiltration and low FOXP3-positive Treg infiltration linked to a worse prognosis. Additionally, PTX3 is identified as a new prognostic biomarker in DLBCL.
Article
Pharmacology & Pharmacy
Yuichiro Yamamoto, Joaquim Carreras, Takanobu Shimizu, Masatoshi Kakizaki, Yara Yukie Kikuti, Giovanna Roncador, Naoya Nakamura, Ai Kotani
Summary: The study found that ETV can induce PD-L1 expression in intestinal epithelial cells and provide a protective effect against DSS-induced colitis, suggesting it as a potential therapeutic agent for the treatment of human IBD.
PHARMACOLOGICAL RESEARCH
(2022)
Article
Oncology
Giovanna Roncador, Joan Punet-Ortiz, Lorena Maestre, Luis Gerardo Rodriguez-Lobato, Scherezade Jimenez, Ana Isabel Reyes-Garcia, Alvaro Garcia-Gonzalez, Juan F. Garcia, Miguel Angel Piris, Santiago Montes-Moreno, Manuel Rodriguez-Justo, Mari-Pau Mena, Carlos Fernandez de Larrea, Pablo Engel
Summary: CD229 is a cell-surface molecule predominantly expressed on lymphocytes. This study investigated the expression of CD229 on various malignancies and normal tissues, showing that it is restricted to hematopoietic cells. The researchers also discovered that the presence of soluble CD229 in the sera of multiple myeloma patients could serve as a prognostic biomarker. These findings suggest that CD229 may be both a useful disease biomarker and a potential therapeutic target.
Article
Pathology
Laura Rodriguez Merino, Aitana Avendano Pomares, Jose Revert Arce, Santiago Montes-Moreno
Summary: The aim of this study was to apply international consensus diagnostic criteria to classify 42 cases of Castleman disease (CD), and identify differences among unicentric CD, idiopathic multicentric Castleman disease (iMCD), HHV-8+ multicentric CD (HHV-8+MCD), and POEMS/plasma cell neoplasia (PCN)-associated CD. The results demonstrated that FDC proliferation was prominent in unicentric CD, while hypervascularity was increased in HHV-8+MCD, and germinal center hyperplasia was found only in iMCD cases and systemic lupus erythematosus (SLE). Monotypic plasma cells were readily identifiable in lymph node biopsies of PCN/POEMS-associated CD.
JOURNAL OF CLINICAL PATHOLOGY
(2023)
Article
Hematology
Sara Fernandez, Jose L. Solorzano, Eva Diaz, Victoria Menendez, Lorena Maestre, Sara Palacios, Mar Lopez, Argentina Colmenero, Monica Estevez, Carlos Montalban, Angel Martinez, Giovanna Roncador, Juan F. Garcia
Summary: The therapeutic potential of JAK/STAT inhibitors in cHL is confirmed by the study, which investigated the effects of JAK/STAT pharmacological inhibition on cHL cell models using ruxolitinib. The study also identified CSF3R as a new biomarker and provided supporting genetic data and mechanistic understanding.
Article
Oncology
Juan M. Roldan-Romero, Carlos Valdivia, Maria Santos, Javier Lanillos, Pablo Maroto, Georgia Anguera, Bruna Calsina, Angel Martinez-Montes, Maria Monteagudo, Sara Mellid, Luis J. Leandro-Garcia, Cristina Montero-Conde, Alberto Cascon, Giovanna Roncador, Javier Coloma, Mercedes Robledo, Cristina Rodriguez-Antona
Summary: Mammalian target of rapamycin (mTOR) is an attractive target for cancer therapy due to its role in promoting tumor growth and resistance to chemotherapy. Whole exome sequencing of chromophobe renal cell carcinoma (chRCC) patients with exceptional mTOR inhibitor sensitivity revealed somatic mutations in the deubiquitinase gene USP9X. By studying multiple patients' samples, it was confirmed that USP9X plays a role in sensitivity to mTOR inhibitors by affecting autophagy and the p62 pathway. These findings suggest that USP9X could serve as a potential marker and strategy for increasing sensitivity to mTOR inhibitors in chRCC patients.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Marta Larrayoz, Maria J. Garcia-Barchino, Jon Celay, Amaia Etxebeste, Maddalen Jimenez, Cristina Perez, Raquel Ordonez, Cesar Cobaleda, Cirino Botta, Vicente Fresquet, Sergio Roa, Ibai Goicoechea, Catarina Maia, Miren Lasaga, Marta Chesi, P. Leif Bergsagel, Maria J. Larrayoz, Maria J. Calasanz, Elena Campos-Sanchez, Jorge Martinez-Cano, Carlos Panizo, Paula Rodriguez-Otero, Silvestre Vicent, Giovanna Roncador, Patricia Gonzalez, Satoru Takahashi, Samuel G. Katz, Loren D. Walensky, Shannon M. Ruppert, Elisabeth A. Lasater, Maria Amann, Teresa Lozano, Diana Llopiz, Pablo Sarobe, Juan J. Lasarte, Nuria Planell, David Gomez-Cabrero, Olga Kudryashova, Anna Kurilovich, Maria V. Revuelta, Leandro Cerchietti, Xabier Agirre, Jesus San Miguel, Bruno Paiva, Felipe Prosper, Jose A. Martinez-Climent
Summary: The lack of preclinical models reflecting the genetic heterogeneity of multiple myeloma (MM) has hindered therapeutic discoveries. To overcome this limitation, researchers used genetically engineered mice to develop bone marrow tumors that mimic MM pathogenesis. Integrative analyses of mice and patients revealed a common genetic pathway that accelerates disease progression and immune evasion mechanisms that remodel the bone marrow microenvironment differently.
Article
Multidisciplinary Sciences
Bruna Calsina, Elena Pineiro-Yanez, Angel M. Martinez-Montes, Eduardo Caleiras, Angel Fernandez-Sanroman, Maria Monteagudo, Rafael Torres-Perez, Coral Fustero-Torre, Marta Pulgarin-Alfaro, Eduardo Gil, Rocio Leton, Scherezade Jimenez, Santiago Garcia-Martin, Maria Carmen Martin, Juan Maria Roldan-Romero, Javier Lanillos, Sara Mellid, Maria Santos, Alberto Diaz-Talavera, Angeles Rubio, Patricia Gonzalez, Barbara Hernando, Nicole Bechmann, Margo Dona, Maria Calatayud, Sonsoles Guadalix, Cristina Alvarez-Escola, Rita M. Regojo, Javier Aller, Maria Isabel Del Olmo-Garcia, Adria Lopez-Fernandez, Stephanie M. J. Fliedner, Elena Rapizzi, Martin Fassnacht, Felix Beuschlein, Marcus Quinkler, Rodrigo A. Toledo, Massimo Mannelli, Henri J. Timmers, Graeme Eisenhofer, Sandra Rodriguez-Perales, Orlando Dominguez, Geoffrey Macintyre, Maria Curras-Freixes, Cristina Rodriguez-Antona, Alberto Cascon, Luis J. Leandro-Garcia, Cristina Montero-Conde, Giovanna Roncador, Juan Fernando Garcia-Garcia, Karel Pacak, Fatima Al-Shahrour, Mercedes Robledo
Summary: The mechanisms of metastasis in pheochromocytoma/paraganglioma (mPPGL) are unknown. Genomic and immunogenomic profiling of mPPGL tumors reveal potential biomarkers for risk of metastasis and immunotherapy response.
NATURE COMMUNICATIONS
(2023)
Article
Immunology
Maria-Luisa del Rio, Carla Yago-Diez de Juan, Giovanna Roncador, Eduardo Caleiras, Ramon Alvarez-Esteban, Jose Antonio Perez-Simon, Jose-Ignacio Rodriguez-Barbosa
Summary: Mutations in the HVEM gene are commonly found in various human tumors, including hematological malignancies. This study investigated the role of HVEM expression on A20 leukemia cells in tumor survival and modulation of anti-tumor immune responses. The results showed that loss of HVEM expression increased tumor infiltration and suppressed tumor progression, highlighting the potential of HVEM/BTLA interaction as a novel immune checkpoint for enhancing anti-tumor responses.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Juan Carlos Caballero, Elham Askari, Nerea Carrasco, Miguel Angel Piris, Begona Perez de Camino, Laura Pardo, Javier Cornago, Jose Luis Lopez-Lorenzo, Pilar Llamas, Laura Solan
Summary: This article reports a case of a 77-year-old woman diagnosed with Waldenstrom macroglobulinemia (WM) following severe and sudden pancytopenia associated with cold agglutinin syndrome. Treatment with rituximab, corticosteroids, and cyclophosphamide was initiated to manage WM and underlying hemolysis. Despite improvements in hemolysis parameters, pancytopenia persisted and ibrutinib was started as a second-line treatment. The patient developed an uncommon invasive fungal infection (IFI) with bone marrow granulomatosis and myelofibrosis during treatment, highlighting a poor hematopoietic response and numerous complications.
Article
Medicine, General & Internal
Juan Carlos Caballero, Laura Pardo, Maria Socorro Rodriguez-Pinilla, Miguel Angel Piris, Beatriz Alvarez, Laura Solan, Javier Cornago, Jose Luis Lopez-Lorenzo, Pilar Llamas, Raul Cordoba, Alberto Lopez-Garcia
Summary: This article presents a rare case of a 25-year-old patient diagnosed with human immunodeficiency virus (HIV) and the development of primary effusion lymphoma (PEL), Kaposi's sarcoma (KS), and multicentric Castleman's disease (MCD). Despite intensive treatment, the patient's condition did not improve. This case highlights the need for new therapies and research in this field.
MEDICINA-LITHUANIA
(2023)
Article
Hematology
Joaquim Carreras, Yara Yukie Kikuti, Masashi Miyaoka, Shinichiro Hiraiwa, Sakura Tomita, Haruka Ikoma, Yusuke Kondo, Atsushi Ito, Shunsuke Nagase, Hisanobu Miura, Giovanna Roncador, Lluis Colomo, Rifat Hamoudi, Elias Campo, Naoya Nakamura
Summary: We report a rare variant of diffuse large B-cell lymphoma with spindle cell morphology in a 74-year-old male patient who presented with right supraclavicular (lymph) node enlargement. The lymphoma was characterized by a cell-of-origin subtype of germinal center B-cell-like (GCB), and mutational profiling confirmed mutations in multiple genes associated with aggressive B-cell lymphomas. The immune microenvironment showed infiltration of tumor-associated macrophages and expression of certain markers associated with poor prognosis. The patient achieved a complete response with R-CHOP therapy.
HEMATOLOGY REPORTS
(2023)
