The first comprehensive genomic analysis of a rare subtytpe of acute myeloid leukaemia was unveiled at the annual meeting of the American Society of Hematology in San Diego, USA.
Dr Ilaria Iacobucci, of the St Jude Department of Pathology, St Jude’s Research Hospital, Memphis, TN, told delegates to the meeting that acute erythroid leukaemia (AEL) includes multiple genetic subtypes with distinct genomic features and clinical outcomes.
Dr Iacobucci and her research team used genome, exome and transcriptome sequencing to map the genomic landscape of 159 cases of AEL in patients from the USA, Europe, Asia and Australia, using the information to generate new experimental models of the disease.
About one-third of patients with the AEL subtype had specific mutations that suggest targeted therapies with tyrosine kinase/Ras inhibitors might be beneficial, she added.
It is one of several studies from the same hospital presented to delegates at the annual meeting in San Diego, California, USA.
Dr Chengcheng Liu presented evidence that demonstrates how variations in the ways patients respond to the drug asparaginase can decrease tolerance to mercaptopurine, a common drug in the treatment of paediatric acute lymphoblastic leukaemia. The study found that patients who have lower antibody responses to asparaginase could not tolerate higher doses of mercaptopurine.
In another presentation, Dr Thomas Alexander reported on the genetic basis of a high-risk subtype of leukaemia called mixed phenotype acute leukaemia.
In what is the first comprehensive genomic analysis of MPAL using 119 confirmed paediatric cases, his research shows that a subtype known as B/myeloid MPAL is characterised by frequent chromosomal rearrangements involving the ZNF384 gene.
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