When does a PNH clone have clinical significance?

Babushok, Daria V.

doi:10.1182/hematology.2021000245

Cited by 18 publications

(26 citation statements)

References 59 publications

(100 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In some cases, SAA may be associated with cytogenetic abnormalities, most often trisomy [18,19,20]. Nearly half of patients with acquired SAA may develop subclinical PNH clone [21].…”

Section: Discussionmentioning

confidence: 99%

Allogeneic hematopoietic stem cell transplantation for acquired severe aplastic anemia: a summary of a 20-year experience

Zielińska¹,

Noster²,

Wieczorkiewicz-Kabut³

et al. 2023

Polish Archives of Internal Medicine

View full text Add to dashboard Cite

What's newAllogeneic hematopoietic stem cell transplantation provides excellent results for young individuals with severe aplastic anemia whereas may be questionable for patients over 40 years. Among 70 allotransplantations performed in our center for the last 20 years, 80% of procedures were done in patients ≤40 years. The estimated overall survival exceeded 70% at 2 years. The use of treosulfan-based conditioning resulted in low incidence of graft failure and severe acute graft versus host disease. There was no difference in post-transplant outcome between peripheral blood and bone marrow stem cell transplantations. Use of alternative donor was associated with increased risk of death. Infections were common and remained the main causes of death. Nowadays, new possibilities emerged even for older patients and for those lacking HLA-matched donor. Our data suggest that allogeneic transplantation may be an option not only for young patients and alternative donor search should be done in selected cases.

show abstract

“…In some cases, SAA may be associated with cytogenetic abnormalities, most often trisomy [18,19,20]. Nearly half of patients with acquired SAA may develop subclinical PNH clone [21].…”

Section: Discussionmentioning

confidence: 99%

Allogeneic hematopoietic stem cell transplantation for acquired severe aplastic anemia: a summary of a 20-year experience

Zielińska¹,

Noster²,

Wieczorkiewicz-Kabut³

et al. 2023

Polish Archives of Internal Medicine

View full text Add to dashboard Cite

show abstract

“…The hematopoietic stem cells have a somatic mutation in the x-linked gene phosphatidylinositol glycan class A (PIG-A), whose job is the biosynthesis of a glycosylphosphatidylinositol (GPI) anchor [12]. GPI anchors over a hundred different types of proteins to the cell surface [13]. Resultant under-expression of necessary proteins follows for hematopoietic stem cells and all lines they could possibly differentiate into.…”

Section: Discussionmentioning

confidence: 99%

History, Etiology, and Treatment of Paroxysmal Nocturnal Hemoglobinuria

Graf¹,

Gallicchio²

2022

Trends Int Med

View full text Add to dashboard Cite

Paroxysmal nocturnal hemoglobinuria is an acquired, rare, nonmalignant hematological disease that is characterized by uncontrolled complement activation and thus intravascular hemolysis. It is caused by somatic mutations in the PIG-A gene that leads to a deficiency in necessary GPI-anchored proteins, which leads to uncontrolled complement activation and thus the clinical manifestations that PNH is often associated with. It is generally accepted that Dr. Paul Strübing first described the disease in 1882, albeit it was Thomas Hale Ham who designed the first diagnostic test (Ham test or acidified serum test) to diagnose the rare disease. Since then, Ham’s test has become obsolete and PNH is detected via flow cytometry. PNH is divided into 3 categories: classical, presence of another bone marrow failure syndrome, and subclinical. Classic PNH is often associated with bone marrow failure, intravascular hemolysis, and/or thrombophilia. A thromboembolic event is the most common cause of mortality for patients with PNH. Before the introduction of anti-complement drugs, allogeneic hematopoietic stem cell transplantation was a common therapy for patients with PNH, although it carried significant risk and has declined drastically as the preferred treatment option of patients. Presently, there are 3 FDA-approved drugs, two terminal complement inhibitors (eculizumab and ravulizumab) and one proximal complement inhibitor (pegcetacoplan). Eculizumab remains the mainstay of treatment as it has since 2007. There is ongoing research and clinical trials in other proximal complement inhibitors to relieve patients of extravascular hemolysis and other common side effects.

show abstract

“…34,35 However, diagnosis of PNH is unfortunately still delayed with time from occurrence of first disease-specific symptoms until final diagnosis too often ranging from months to even years, [36][37][38] even in patients with preceding AA or low-risk MDS, who need to be monitored enduringly for the occurrence and development of PNH after successful treatment of their primary BMF manifestation. 39,40…”

Section: Pnh-we Know the Cause While We Do Not Finally Know What Is C...mentioning

confidence: 99%

Paroxysmal nocturnal hemoglobinuria: Where we stand

Panse

2023

American J Hematol

View full text Add to dashboard Cite

For the last 20 years, therapy of paroxysmal nocturnal hemoglobinuria (PNH) relied-up until recently-on antibody based terminal complement inhibitionon. PNH pathophysiology-a mutational defect leading to partial or complete absence of complement-regulatory proteins on blood cells-leads to intravascular hemolysis and consequences such as thrombosis and other sequelae. A plethora of new drugs interfering with the proximal and terminal complement cascade are under recent development and the first "proof-of-pinciple" proximal complement inhibitor targeting C3 has been approved in 2021. "PNH: where we stand" will try to give a brief account on where we came from and where we stand focusing on approved therapeutic options. The associated improvements as well as potential consequences of actual and future treatments as well as their impact on the disease will continue to necessitate academic and scientific focus on improving treatment options as well as on side effects and outcomes relevant to individual patient lives and circumstances in order to develop effective, safe, and available treatment for all hemolytic PNH patients globally.Note: Due to space limitation the author mostly cites reviews and overviews, giving readers the chance to easily find continuative summaries of potentially interesting topics. He therefore does apologize

show abstract

When does a PNH clone have clinical significance?

Cited by 18 publications

References 59 publications

Allogeneic hematopoietic stem cell transplantation for acquired severe aplastic anemia: a summary of a 20-year experience

Allogeneic hematopoietic stem cell transplantation for acquired severe aplastic anemia: a summary of a 20-year experience

History, Etiology, and Treatment of Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal nocturnal hemoglobinuria: Where we stand

Contact Info

Product

Resources

About