Affiliation:
1. Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
2. Department of Oncology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
Abstract
Acute Erythroid Leukemia (AEL) is a rare and aggressive subtype of Acute Myeloid Leukemia (AML). In 2022, the World Health Organization (WHO) defined AEL as a biopsy with ≥30% proerythroblasts and erythroid precursors that account for ≥80% of cellularity. The International Consensus Classification refers to this neoplasm as “AML with mutated TP53”. Classification entails ≥20% blasts in blood or bone marrow biopsy and a somatic TP53 mutation (VAF > 10%). This type of leukemia is typically associated with biallelic TP53 mutations and a complex karyotype, specifically 5q and 7q deletions. Transgenic mouse models have implicated several molecules in the pathogenesis of AEL, including transcriptional master regulator GATA1 (involved in erythroid differentiation), master oncogenes, and CDX4. Recent studies have also characterized AEL by epigenetic regulator mutations and transcriptome subgroups. AEL patients have overall poor clinical outcomes, mostly related to their poor response to the standard therapies, which include hypomethylating agents and intensive chemotherapy. Allogeneic bone marrow transplantation (AlloBMT) is the only potentially curative approach but requires deep remission, which is very challenging for these patients. Age, AlloBMT, and a history of antecedent myeloid neoplasms further affect the outcomes of these patients. In this review, we will summarize the diagnostic criteria of AEL, review the current insights into the biology of AEL, and describe the treatment options and outcomes of patients with this disease.
Funder
National Cancer Institute/NIH
MacMillan Pathway to Independence Program Award
Greek State Scholarships Foundation
Reference93 articles.
1. Acute Erythroid Leukemia;Zuo;Arch. Pathol. Lab. Med.,2010
2. Erythroleukemia: Classification;Cervera;EJHaem,2023
3. Almeida, A.M., Prebet, T., Itzykson, R., Ramos, F., Al-Ali, H., Shammo, J., Pinto, R., Maurillo, L., Wetzel, J., and Musto, P. (2017). Clinical Outcomes of 217 Patients with Acute Erythroleukemia According to Treatment Type and Line: A Retrospective Multinational Study. Int. J. Mol. Sci., 18.
4. Familial Erythroleukemia: A Distinct Clinical and Genetic Type of Familial Leukemias;Novik;Leuk. Lymphoma,1998
5. The 5th Edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms;Alaggio;Leukemia,2022