Gene Mutations Do Not Operate in a Vacuum: the Increasing Importance of Epigenetics in Juvenile Myelomonocytic Leukemia
Overview
Authors
Affiliations
Juvenile myelomonocytic leukemia (JMML) stands out among malignant neoplasms of childhood in several ways. First, JMML is a model condition to elucidate the relevance of deregulated Ras signal transduction in human cancer. Second, the identification of Ras pathway mutations in JMML has informed the field of germline cancer predisposition and advanced the understanding of molecular mechanisms underlying the progression from predisposition to neoplasia. Third and not least, genomic DNA methylation was discovered to play a salient role in the classification and prognostication of the disease. This article discusses the evolution of epigenetic research on JMML over the past years and reviews the relevance of aberrant DNA methylation in the diagnosis, concept, and clinical decision-making of JMML.
BH3 mimetics and azacitidine show synergistic effects on juvenile myelomonocytic leukemia.
Wu Y, Zehnle P, Rajak J, Koleci N, Andrieux G, Gallego-Villar L Leukemia. 2023; 38(1):136-148.
PMID: 37945692 PMC: 10776398. DOI: 10.1038/s41375-023-02079-5.
Wintering A, Smith S, Fuh B, Rangaswami A, Dahl G, Chien M Pediatr Blood Cancer. 2021; 69(5):e29499.
PMID: 34939322 PMC: 8957526. DOI: 10.1002/pbc.29499.
Juvenile myelomonocytic leukemia presenting in an infant with a subdural hematoma.
Lambert W, DiGiuseppe J, Lara-Ospina T, Bookland M, Martin J, Hersh D Childs Nerv Syst. 2021; 37(6):2075-2079.
PMID: 33404720 DOI: 10.1007/s00381-020-05013-7.