McNulty, MaureenCrispino, John D
Summary
Acute megakaryoblastic leukemia (AMKL) is a rare disease that effects the cells inside bone marrow that produce platelets. Children with Down syndrome (DS) have a higher risk of developing the disease, a different age of onset, and a better overall prognosis compared to those with AMKL that do not have DS. In this paper, researchers discuss the contributions of chromosome 21 genes to AMKL as well as the main differences seen in DS- and non-DS-AMKL. Although researchers have made many insights into understanding AMKL, there is a continued need for deeper research.
Abstract
Acute megakaryoblastic leukemia (AMKL) is a rare malignancy affecting megakaryocytes, platelet-producing cells that reside in the bone marrow. Children with Down syndrome (DS) are particularly prone to developing the disease and have a different age of onset, distinct genetic mutations, and better prognosis as compared with individuals without DS who develop the disease. Here, we discuss the contributions of chromosome 21 genes and other genetic mutations to AMKL, the clinical features of the disease, and the differing features of DS- and non-DS-AMKL. Further studies elucidating the role of chromosome 21 genes in this disease may aid our understanding of how they function in other types of leukemia, in which they are frequently mutated or differentially expressed. Although researchers have made many insights into understanding AMKL, much more remains to be learned about its underlying molecular mechanisms.
Conditions
Cancer, Leukemia, Leukemia, Megakaryoblastic, Acute