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IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

Pediatric hematology and oncology - 1 Aug 2020

Srinivasan Anand, Zhou Yaolin, Scordino Teresa, Prabhu Sandeep, Wierenga Andrea, Simon Garfield, Wierenga Klaas J, Thompson Joel, Shah Rikin, Sinha Arpan A

Abstract excerpt

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 (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...

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PMID: 32166993
DOI: 10.1080/08880018.2020.1737284

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