Mutated Acute Myeloid Leukemia in a Child with Metaphyseal Chondromatosis with D-2-hydroxyglutaric Aciduria

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare metabolic disorder characterized by developmental delay, hypotonia, and bi-allelic mutations in D-2-hydroxyglutarate dehydrogenase or a single gain-of-function mutation in isocitrate dehydrogenase 2 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) is a type of D-2-HGA that has been previously reported in ten patients (OMIM 614875), three of whom had somatic mosaicism for R132 variants in isocitrate dehydrogenase 1 (). We describe a 3-year-old boy with MC-HGA who subsequently developed acute myeloid leukemia (AML) and was found to have an R132C mutation in a leukemic bone marrow sample. Further testing revealed presence of somatic mosaicism for R132C variant, suggesting an association of in inducing myeloid leukemogenesis.