title: Cytogenetic and Cytogenomic Microarray Characterization of Chromothripsis in Chromosome 8 Affecting MOZ/NCOA2 (TIF2), FGFR1, RUNX1T1, and RUNX1 in a Pediatric Acute Myeloid Leukemia.
abstract: Concurrent perturbations in different driver genes have been reported primarily in lymphoma. In acute myeloid leukemia (AML), cases with concurrent alterations in 2 driver genes are infrequently reported. In contrast to pathogenetic pathways in lymphoma with concurrently perturbed genes, the initial gene alteration in AML arrests maturation and the alteration in the second gene promote self-renewal of the blasts. Here, we report a unique case of infantile leukemia in which chromothripsis in chromosome 8 completely altered the G-band structure and resulted in concurrent changes in MOZ/NCOA2, FGFR1, RUNX1T1, and RUNX1. These multiple-hit abnormalities in AML have not been reported previously.
authors.affiliation: Department of Pathology, UT Southwestern Medical Center, Dallas, TX.
authors.forename: Prasad R
authors.initials: PR
authors.lastname: Koduru
authors.forename: Kathleen
authors.initials: K
authors.lastname: Wilson
authors.forename: Jiadi
authors.initials: J
authors.lastname: Wen
authors.forename: Rolando
authors.initials: R
authors.lastname: Garcia
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Patel
authors.forename: Sara A
authors.initials: SA
authors.lastname: Monaghan
mesh_terms: D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D000072837:Chromothripsis; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D051548:Histone Acetyltransferases / Q000235:genetics; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D051958:Nuclear Receptor Coactivator 2 / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D011518:Proto-Oncogene Proteins / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C498001:NCOA2 protein, human; D051958:Nuclear Receptor Coactivator 2; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C493728:RUNX1 protein, human; C082222:RUNX1T1 protein, human; D014157:Transcription Factors; D051548:Histone Acetyltransferases; C108712:KAT6A protein, human; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1