title: Mutations of GATA1, FLT3, MLL-partial tandem duplication, NRAS, and RUNX1 genes are not found in a 7-year-old Down syndrome patient with acute myeloid leukemia (FAB-M2) having a good prognosis.
abstract: The prognosis of leukemia developed in Down syndrome (DS) patients has improved markedly. Most DS leukemia occurs before 3 years of age and is classified as acute megakaryocytic leukemia (AMKL). Mutations in the GATA1 gene have been found in almost all DS patients with AMKL. In contrast, it has been shown that occurrence of DS acute myeloid leukemia (DS-AML) after 3 years of age may indicate a higher risk for a poor prognosis, but its frequency is very low. Age is one of the significant prognostic indicators in DS-AML. The prognostic factor of gene alterations has not been reported in older DS-AML patients. We here describe the case of a 7-year-old DS boy with AML-M2, who had no history of transient abnormal myelopoiesis or any clinical poor prognostic factors, such as high white blood cell counts or extramedullary infiltration. We molecularly analyzed the GATA1, FLT3, MLL-partial tandem duplication, NRAS, and RUNX1 (previously AML1) genes and did not detect any alterations. The patient has lived for more than 5 years after treatment on the AML99-Down protocol in Japan. This suggests that a patient lacking these genes alterations might belong to a subgroup of older DS-AML patients with good prognosis. Accumulation of more data on older pediatric DS-AML patients is needed.
authors: Department of Pediatrics, Tokyo Metropolitan Komagome Hospital, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113-8677, Japan. m.kawamura@cick.jp
authors: Machiko
authors: M
authors: Kawamura
authors: Hidefumi
authors: H
authors: Kaku
authors: Takeshi
authors: T
authors: Taketani
authors: Tomohiko
authors: T
authors: Taki
authors: Akira
authors: A
authors: Shimada
authors: Yasuhide
authors: Y
authors: Hayashi
mesh_terms: D002648:Child; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications*; D050982:GATA1 Transcription Factor / Q000235:genetics*; D020440:Gene Duplication; D011905:Genes, ras; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D011379:Prognosis; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D050982:GATA1 Transcription Factor; C497422:KMT2A protein, human; C493728:RUNX1 protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3