Somatic Mutations in Aplastic Anemia

Ghulam J Mufti; Judith C W Marsh

doi:10.1016/j.hoc.2018.03.002

Somatic Mutations in Aplastic Anemia

Hematol Oncol Clin North Am. 2018 Aug;32(4):595-607. doi: 10.1016/j.hoc.2018.03.002. Epub 2018 Jun 5.

Authors

Ghulam J Mufti¹, Judith C W Marsh²

Affiliations

¹ Department of Haematological Medicine, King's College Hospital, King's College London, Denmark Hill, London SE59RS, UK.
² Department of Haematological Medicine, King's College Hospital, King's College London, Denmark Hill, London SE59RS, UK. Electronic address: Judith.marsh@nhs.net.

PMID: 30047413
DOI: 10.1016/j.hoc.2018.03.002

Abstract

Aplastic anemia (AA) is an immune-mediated disorder that overlaps closely with clonal disorders, such as myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria (PNH). PIGA mutations in PNH clones and functional loss of HLA, including structural HLA mutations, likely represent immune escape clones and correlate with response to immunosuppressive therapy (IST). Somatic mutations typical for myeloid malignancies and age-related clonal hematopoiesis are detected in a proportion of AA patients, but their significance is unclear and seems to depend on whether patients are tested at diagnosis or after IST, patient age and ethnicity, and the methodology of molecular testing used.

Keywords: Aplastic anemia; Myeloid neoplasms; Somatic mutations; Treatment.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Anemia, Aplastic* / genetics
Anemia, Aplastic* / immunology
Anemia, Aplastic* / pathology
Hematopoiesis* / genetics
Hematopoiesis* / immunology
Hemoglobinuria, Paroxysmal* / genetics
Hemoglobinuria, Paroxysmal* / immunology
Hemoglobinuria, Paroxysmal* / pathology
Humans
Mutation*
Myelodysplastic Syndromes* / genetics
Myelodysplastic Syndromes* / immunology
Myelodysplastic Syndromes* / pathology