Agpat2-related brunzell syndrome

A disorder seen following cancer chemotherapy. It typically manifests a few years after initiation of epipodophyllotoxin chemotherapy. Mutagenic potential of these non-intercalating DNA topoisomerase II inhibitors is believed to be increased with concurrent use of asparaginase or granulocyte colony-stimulating factor. Balanced translocations involving chromosomal bands 11q23 and 21q22 are commonly associated with this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course usually progresses to acute myeloid leukemia though most epipodophyllotoxin-related leukemias do not have an antecedent myelodysplastic phase. Prognosis is dismal with survivability usually less than one year.

Disease Alternative Name

therapy-related myelodysplastic syndrome
epipodophyllotoxin related myelodysplastic syndrome
epipodophyllotoxin-related myelodysplastic syndrome

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