A Rare but High-Risk Genetic Subgroup
In this study, researchers investigated the impact of hypodiploidy, a genetic abnormality, in children with acute myeloid leukemia (AML). Hypodiploidy refers to having fewer than the normal number of chromosomes (45 or fewer) in cells. While it is already known as a high-risk factor in another type of leukemia (acute lymphoblastic leukemia), its role in AML had not been independently studied before.
The study analyzed data from children under 18 years old who were diagnosed with AML and hypodiploidy between 2000 and 2015. Certain genetic profiles were excluded from the study. Among the 81 affected children, most had 45 chromosomes, while some had only 43 or 44. Chromosome 9 and the sex chromosomes were the most frequently missing.
The results showed that these children had significantly lower survival rates. Five years after diagnosis, only 34% of the children were event-free (event-free survival), and 52% were still alive (overall survival). The prognosis was particularly poor for children with 44 or fewer chromosomes. Even undergoing a stem cell transplant did not significantly improve their survival.
Overall, the study identifies hypodiploidy in AML as a rare but very unfavorable genetic abnormality, making it difficult to treat effectively, even with aggressive therapies.