Predictive Markers for Response to Immunosuppressive Therapy in Aplastic Anaemia

Abstract

Aplastic Anaemia (AA) is a rare, life-threatening condition characterised by bone marrow failure and pancytopenia. The primary treatment options include haematopoietic stem cell transplantation (HSCT) and immunosuppressive therapy (IST), each with distinct advantages and limitations. While HSCT offers a potential cure, its use is limited by factors such as donor availability, graft-versus-host disease, and its unsuitability for older patients. In contrast, IST is less invasive and more widely accessible, with a success rate of 60%–90%, but it carries a high risk of relapse and progression to myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML) and clonal evolution. Predictive markers are crucial for personalising treatment, monitoring efficacy and assessing relapse risk. However, only a few markers are currently implemented in clinical decision-making. This review focuses on the clinical, immunological and genetic markers, including cytokine levels, telomere length and paroxysmal nocturnal haemoglobinuria (PNH) clone size, which have been identified as potential predictors of IST response in AA. Most studies have been retrospective in nature, with variability in techniques and therapies, leading to inconsistency and limited reproducibility. Future large-scale prospective studies, conducted with standardised protocols, are essential to validate these markers. The development of a robust scoring system that integrates clinical and molecular data holds promise for improving personalised treatment approaches, ultimately enhancing AA management and patient outcomes.