title: Adult Low-Hypodiploid Acute B-Lymphoblastic Leukemia With IKZF3 Deletion and TP53 Mutation: Comparison With Pediatric Patients.
abstract: OBJECTIVE
  Chromosomal ploidy is a major risk stratification tool for acute B-cell lymphoblastic leukemia (B-ALL). Low hypodiploidy and near-haploidy are thought to be confined to pediatric B-ALL and associated with a poor prognosis. Doubling of either a low-hypodiploid or a near-haploid clone results in an apparently high-hyperdiploid karyotype, which is often misclassified for risk.
  
  
  METHODS
  We studied four patients with B-ALL who had chromosome genomic array testing (CGAT), along with fluorescence in situ hybridization and mutation testing.
  
  
  RESULTS
  We identified a unique case of adult B-ALL with masked low hypodiploidy (mLH) by genomic duplication, along with a somatic deletion of the IKZF3 gene and a somatic TP53 mutation. Three cases of pediatric B-ALL with mLH, two with TP53 mutations and one untested, were also identified and compared with the adult patient.
  
  
  CONCLUSIONS
  CGAT was critical in the genotype clarification of these cases through detection of copy-neutral loss of heterozygosity and should be considered performing for B-ALL with apparent hyperdiploidy for accurate prognostic risk stratification and treatment planning.
authors.affiliation: From the Fred Hutchinson Cancer Research Center, Seattle, WA; University of Washington, Seattle; Seattle Cancer Care Alliance, Seattle, WA; mfang@fhcrc.org.
authors.forename: Min
authors.initials: M
authors.lastname: Fang
authors.affiliation: From the Fred Hutchinson Cancer Research Center, Seattle, WA; University of Washington, Seattle;
authors.forename: Pamela S
authors.initials: PS
authors.lastname: Becker
authors.affiliation: From the Fred Hutchinson Cancer Research Center, Seattle, WA; University of Washington, Seattle;
authors.forename: Michael
authors.initials: M
authors.lastname: Linenberger
authors.affiliation: From the Fred Hutchinson Cancer Research Center, Seattle, WA; University of Washington, Seattle; Seattle Cancer Care Alliance, Seattle, WA;
authors.forename: Keith D
authors.initials: KD
authors.lastname: Eaton
authors.affiliation: From the Fred Hutchinson Cancer Research Center, Seattle, WA; University of Washington, Seattle; Seattle Cancer Care Alliance, Seattle, WA;
authors.forename: Frederick R
authors.initials: FR
authors.lastname: Appelbaum
authors.affiliation: Texas Children's Cancer and Hematology Centers and Department of Pediatrics, Baylor College of Medicine, Houston;
authors.forename: ZoAnn
authors.initials: Z
authors.lastname: Dreyer
authors.affiliation: Texas Children's Cancer and Hematology Centers and Department of Pediatrics, Baylor College of Medicine, Houston;
authors.forename: Gladstone
authors.initials: G
authors.lastname: Airewele
authors.affiliation: Texas Children's Cancer and Hematology Centers and Department of Pediatrics, Baylor College of Medicine, Houston;
authors.forename: Michele
authors.initials: M
authors.lastname: Redell
authors.affiliation: Texas Children's Cancer and Hematology Centers and Department of Pediatrics, Baylor College of Medicine, Houston;
authors.forename: Dolores
authors.initials: D
authors.lastname: Lopez-Terrada
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; and.
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.affiliation: Texas Children's Cancer and Hematology Centers and Department of Pediatrics, Baylor College of Medicine, Houston;
authors.forename: Karen R
authors.initials: KR
authors.lastname: Rabin
authors.affiliation: Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston.
authors.forename: Xinyan
authors.initials: X
authors.lastname: Lu
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D051740:Ikaros Transcription Factor / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D017384:Sequence Deletion; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D055815:Young Adult
chemical_list: C106285:IKZF3 protein, human; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D051740:Ikaros Transcription Factor
keywords: B-cell lymphoblastic leukemia; IKZF; TP53; chromosome genomic array testing; copy-neutral loss of heterozygosity; single-nucleotide polymorphism array