title: Therapy-related adult acute lymphoblastic leukemia with t(4;11)(q21; q23): MLL rearrangement, p53 mutation and multilineage involvement.
abstract: A diagnosis of pro-B acute lymphoblastic leukemia (ALL) with CD15+ was made in a 42-year-old woman, 12 months after the treatment of uterine adenocarcinoma by carboplatinum, anthracyclines, etoposide and radiotherapy. Molecular cytogenetic studies revealed a karyotype with multiple chromosome changes, including the t(4;11)(q21;q23) and a 17p-chromosome, with MLL disruption and 17p13/p53 gene deletion in 86% of the cells. A p53 exon 6 mutation was documented, resulting in p53 protein stabilization, with 20% of the cells reacting with the 1801 anti-p53 monoclonal antibody. Dual-color FISH using MLL and p53 probes was performed on peripheral blood smears, providing direct evidence of the involvement of the blast cells and of the granulocytic lineage. Only a partial, shortlasting response was obtained by induction treatment, confirming that a poor prognosis is associated with therapy-related ALL with the 4;11 translocation.
authors.affiliation: Dipartimento di Scienze Biomediche e Terapie Avanzate, Università di Ferrara, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Bigoni
authors.forename: A
authors.initials: A
authors.lastname: Cuneo
authors.forename: M G
authors.initials: MG
authors.lastname: Roberti
authors.forename: S
authors.initials: S
authors.lastname: Moretti
authors.forename: C
authors.initials: C
authors.lastname: De Angeli
authors.forename: M
authors.initials: M
authors.lastname: Dabusti
authors.forename: D
authors.initials: D
authors.lastname: Campioni
authors.forename: L
authors.initials: L
authors.lastname: del Senno
authors.forename: A
authors.initials: A
authors.lastname: Biondi
authors.forename: T
authors.initials: T
authors.lastname: Chaplin
authors.forename: B D
authors.initials: BD
authors.lastname: Young
authors.forename: G
authors.initials: G
authors.lastname: Castoldi
mesh_terms: D000328:Adult; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D016158:Genes, p53; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D009154:Mutation; D051788:Myeloid-Lymphoid Leukemia Protein; D016609:Neoplasms, Second Primary / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011519:Proto-Oncogenes; D014157:Transcription Factors; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase