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Diagnostic evaluation in bone marrow failure disorders: what have we learnt to help inform the transplant decision in 2024 and beyond?

Bone Marrow Transplantation volume 59, pages 444–450 (2024)Cite this article

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Abstract

Aplastic anemia (AA) is the prototypical bone marrow failure syndrome. In the current era of readily available ‘molecular annotation’, application of comprehensive next-generation sequencing panels has generated novel insights into underlying pathogenetic mechanisms, potentially leading to improvements in personalized therapeutic approaches. New evidence has emerged as to the role of somatic loss of HLA class I allele expression in ‘immune-mediated’ AA, associated molecular aberrations, and risk of clonal evolution. A deeper understanding has emerged regarding the role of ‘myeloid’ gene mutations in this context, translating patho-mechanistic insights derived from wider clinical and translational research within the myeloid disorder arena. Here, we review contemporary ‘tools’ which aid in confirmation of a diagnosis of AA, with an additional focus on their potential in guiding therapeutic options. A specific emphasis is placed upon interpretation and integration of this detailed diagnostic information and how this may inform optimal transplantation strategies.

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Fig. 1: Pathogenesis of aplastic anemia.

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Acknowledgements

CG was supported by a grant from the Edward P. Evans Foundation. SP was supported by a grant from the Association HPN France—Aplasie medullaire and Foundation For Rare Diseases (FFRD).

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Authors and Affiliations

  1. Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

    Giulia Ciangola, Enrico Santinelli & Carmelo Gurnari

  2. University College London Hospitals NHS Trust, London, UK

    Donal P. McLornan

  3. Sérvice d’Hématologie Clinique, CHRU de Nancy, Nancy, France

    Simona Pagliuca

  4. CNRS UMR 7365 IMoPa, Biopôle de l’Université de Lorraine, Vandœuvre-lès-Nancy, France

    Simona Pagliuca

  5. Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA

    Carmelo Gurnari

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  1. Giulia Ciangola
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CG, SP, GC and ES wrote the manuscript. DM revised the manuscript. All authors read and approved the final version of the manuscript and are accountable for all aspects of the work.

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Correspondence to Carmelo Gurnari.

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Ciangola, G., Santinelli, E., McLornan, D.P. et al. Diagnostic evaluation in bone marrow failure disorders: what have we learnt to help inform the transplant decision in 2024 and beyond?. Bone Marrow Transplant 59, 444–450 (2024). https://doi.org/10.1038/s41409-024-02213-6

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