Review
Immunology
Melissa A. Colden, Sushant Kumar, Bolormaa Munkhbileg, Daria V. Babushok
Summary: Paroxysmal Nocturnal Hemoglobinuria (PNH) is a disease that involves mutations in a specific gene, leading to hemolysis and abnormal clonal expansion of blood cells. The mechanisms behind this expansion are still debated, but recent advancements in research and technology offer new opportunities for understanding the disease.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Oncology
Eleni Gavriilaki, Athanasios Tragiannidis, Maria Papathanasiou, Sotiria Besikli, Paraskevi Karvouni, Vassiliki Douka, Eleni Paphianou, Emmanuel Hatzipantelis, Giorgos Papaioannou, Anastasia Athanasiadou, Anastasia Marvaki, Alkistis-Kira Panteliadou, Anna Vardi, Ioannis Batsis, Antonia Syrigou, Despina Mallouri, Chrysavgi Lalayanni, Ioanna Sakellari
Summary: This study aims to investigate the efficiency and safety of therapeutic methods for aplastic anemia and paroxysmal nocturnal hemoglobinuria. The study found that novel treatments are changing the field of BMF syndromes, but further research is needed to personalize algorithms.
FRONTIERS IN ONCOLOGY
(2022)
Article
Hematology
Bruno G. P. Pires da Silva, Natasha P. Fonseca, Luis Fernando B. Catto, Gabriel C. Pereira, Rodrigo T. Calado
Summary: This study retrospectively analyzed 87 cases of PNH in a Brazilian referral center and found that PNH presentation was variable, with most patients having subclinical disease or associated with bone marrow failure. The clone size remained stable or even disappeared in most cases.
ANNALS OF HEMATOLOGY
(2022)
Review
Medicine, General & Internal
Bruno Fattizzo, Fabio Serpenti, Juri Alessandro Giannotta, Wilma Barcellini
Summary: Paroxysmal nocturnal hemoglobinuria (PNH) is an intriguing disease with ongoing research on its pathophysiology, diagnostics, and treatment. Advanced flow cytometry techniques have enabled detection of small PNH clones, but data interpretation remains challenging. New complement inhibitors may improve patients' quality of life and response rates, but questions regarding their use and long-term safety need further investigation.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Jose Rayas, Mariam Hassan, Rivers A. Hock, Bryan Nguyen, Swathi Prakash, Adrian Rojas Murguia, Ilma Vahora, Javier Corral, Osvaldo Padilla, Fatma Dihowm
Summary: Paroxysmal nocturnal hemoglobinuria (PNH) is a acquired X-linked, clonal hematopoietic stem cell disease with vague symptomatology, which poses difficulties in diagnosis, especially when coexisting with other hematologic disorders. The authors encourage screening for PNH clones in patients initially diagnosed with aplastic anemia (AA), treating underlying hematologic disease to prevent clonal expansion, and further research on the effectiveness of eculizumab in an unusual classical PNH secondary to AA with hypercellular bone marrow.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Immunology
Jie Wang, Zheng Yang, Danhong Ren, Zhanli Shi, Kun Fang, Zhihui Li
Summary: This is a case report about a patient with AA-PNH syndrome complicated with fatal disseminated varicella zoster virus infection, highlighting the serious complications and high mortality rate associated with this infection. Clinicians need to be aware of the infection in such patients and provide prompt and effective treatment.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Hematology
Kohei Hosokawa, Shinji Nakao
Summary: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder caused by a PIGA gene mutation. Clonal expansion of GPI(-) cells is common in PNH, but tiny GPI(-) cell populations can also be found in healthy individuals. In patients with acquired aplastic anemia, the expansion of PNH clones is related to immune attack on hematopoietic stem cells. However, the mechanisms underlying the selection and expansion of GPI(-) cells remain unclear.
SEMINARS IN HEMATOLOGY
(2022)
Review
Hematology
Jens Panse
Summary: In the past 20 years, therapy for paroxysmal nocturnal hemoglobinuria (PNH) mainly relied on antibody-based terminal complement inhibition. PNH is a disease characterized by a mutation that causes the absence or deficiency of complement-regulatory proteins on blood cells, leading to intravascular hemolysis and related complications. Recently, there has been a development of new drugs targeting the proximal and terminal complement cascade, with the approval of the first proximal complement inhibitor targeting C3 in 2021. This article aims to provide an overview of the progress made in PNH treatment and discuss the approved therapeutic options, as well as the potential impact and consequences of current and future treatments on patients' lives.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Review
Oncology
Juri Alessandro Giannotta, Bruno Fattizzo, Wilma Barcellini
Summary: Paroxysmal nocturnal hemoglobinuria (PNH) is associated with aplastic anemia and myelodysplastic syndromes, with a prevalence of PNH clones in MPN patients around 10%, commonly associated with JAK2V617F-positive myelofibrosis. Thrombotic events are a common clinical presentation in this combination, sometimes refractory to treatment, and the use of eculizumab may only provide partial effectiveness in controlling hemolytic anemia, necessitating careful evaluation of risk/benefit in this peculiar setting.
FRONTIERS IN ONCOLOGY
(2021)
Article
Hematology
Gloria F. Gerber, Robert A. Brodsky
Summary: This article discusses the theoretical basis and clinical studies of using C3 inhibitors in the treatment of PNH, as well as provides suggestions for treatment sequencing.
Review
Immunology
Chenyuan Li, Xifeng Dong, Huaquan Wang, Zonghong Shao
Summary: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired genetic mutation disease caused by defects in the PIG-A gene, leading to hemolysis of erythrocyte membranes.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Peter Hillmen, Jeff Szer, Ilene Weitz, Alexander Roeth, Britta Hoechsmann, Jens Panse, Kensuke Usuki, Morag Griffin, Jean-Jacques Kiladjian, Carlos de Castro, Hisakazu Nishimori, Lisa Tan, Mohamed Hamdani, Pascal Deschatelets, Cedric Francois, Federico Grossi, Temitayo Ajayi, Antonio Risitano, Regis Peffault de la Tour
Summary: The study demonstrated that Pegcetacoplan was superior to eculizumab in improving hemoglobin and clinical and hematologic outcomes in patients with PNH by providing broad hemolysis control, including control of intravascular and extravascular hemolysis.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Review
Hematology
Robert A. Brodsky
Summary: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare complement-mediated hemolytic anemia with diverse manifestations, requiring differentiated treatment approaches; terminal complement inhibition is effective for intravascular hemolysis treatment but not bone marrow failure; novel complement inhibitors under clinical development show promising prospects for future applications.
Review
Biochemistry & Molecular Biology
Antonio G. Solimando, Carmen Palumbo, Mary Victoria Pragnell, Max Bittrich, Antonella Argentiero, Markus Krebs
Summary: In recent years, it has become evident that bone marrow failures and myeloid malignancy predisposition syndromes have a wide range of phenotypes. Diagnosis of these diseases should be considered in patients with unexplained hematopoiesis defects. Treatment of hypocellular bone marrow failure remains challenging. Exogenous stressors, immune defects, and constitutional genetic defects contribute to disease progression. Understanding the diverse phenotypes of inherited and acquired bone marrow failures and predispositions to myeloid malignancies is crucial. Exploring the pathomechanisms of bone marrow failure may lead to the discovery of new therapeutic and diagnostic strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Harry Lesmana, Timothy Jacobs, Michelle Boals, Nathan Gray, Sara Lewis, Juan Ding, Guolian Kang, Melvanique Hale, Mitchell Weiss, Ulrike Reiss, Winfred Wang, Marcin Wlodarski
Summary: This study evaluated the efficacy and safety of standard immunosuppressive therapy and combination therapy with eltrombopag in pediatric severe aplastic anemia patients. The results showed a higher objective response rate in the treatment group with eltrombopag added, and no significant differences in infections between the two therapies.
PEDIATRIC BLOOD & CANCER
(2021)
