IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria |
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| Authors: | Anand Srinivasan Yaolin Zhou Teresa Scordino Sandeep Prabhu Andrea Wierenga Garfield Simon |
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| Institution: | 1. Jimmy Everest Section of Pediatric Hematology/Oncology, Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA;2. Department of Pathology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA;3. Department of Radiology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA;4. Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA |
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| Abstract: | AbstractD-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 (D2HGDH) or a single gain-of-function mutation in isocitrate dehydrogenase 2 (IDH2). 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 (IDH1). We describe a 3-year-old boy with MC-HGA who subsequently developed acute myeloid leukemia (AML) and was found to have an IDH1 R132C mutation in a leukemic bone marrow sample. Further testing revealed presence of somatic mosaicism for IDH1 R132C variant, suggesting an association of IDH1 in inducing myeloid leukemogenesis. |
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| Keywords: | AML IDH1 mutation MC-HGA |
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