Srinivasan Anand, Zhou Yaolin, Scordino Teresa, Prabhu Sandeep, Wierenga Andrea, Simon Garfield, Wierenga Klaas J, Thompson Joel, Shah Rikin, Sinha Arpan A
Jimmy Everest Section of Pediatric Hematology/Oncology, Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Department of Pathology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
Pediatr Hematol Oncol. 2020 Aug;37(5):431-437. doi: 10.1080/08880018.2020.1737284. Epub 2020 Mar 13.
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.
D-2-羟基戊二酸尿症（D-2-HGA）是一种罕见的代谢紊乱疾病，其特征为发育迟缓、肌张力减退，以及D-2-羟基戊二酸脱氢酶的双等位基因突变或异柠檬酸脱氢酶2的单一功能获得性突变。伴有D-2-羟基戊二酸尿症的干骺端软骨瘤病（MC-HGA）是D-2-HGA的一种类型，此前已在10例患者中报道过（OMIM 614875），其中3例在异柠檬酸脱氢酶1（）的R132变体中存在体细胞镶嵌现象。我们描述了一名患有MC-HGA的3岁男孩，该男孩随后发展为急性髓系白血病（AML），并在白血病骨髓样本中发现了R132C突变。进一步检测发现存在R132C变体的体细胞镶嵌现象，提示在诱导髓系白血病发生中存在关联。
