Multigenetic lesions in infant acute leukaemias: Correlations with ALL-1 gene status

Giuseppe Cimino, Carlo Lanza, Loredana Elia, Francesco Lo Coco, Gianluca Gaidano, Andrea Biondi, Cristina Pastore, Anna Serra, Eli Canaani, Carlo Maria Croce, Franco Mandelli, Giuseppe Saglio

Research output: Contribution to journalArticle

Abstract

In this study we investigated the presence of structural lesions in the ALL-1, p53 and p16 (cyclin-dependent kinase 4 inhibitor) genes in leukaemic cells obtained from 22 patients with infant acute leukaemia (aged <18 months). Of these, 18 cases were classified as acute lymphoblastic leukaemia (ALL) and four as acute myeloid leukaemia (AML). Tumour DNAs were analysed by a combination of Southern blot, polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP), and direct sequence analyses. The results showed ALL-1 gene rearrangements in 15/22 (68%) cases, p53 gene mutations in 5/22 (26%), and a homozygous deletion of p16 in a single T-ALL case. p53 and p16 alterations were all found in the group of patients with ALL-1 gene rearrangements. p53 mutations were more often associated with a myeloid phenotype (3/5). In summary, multiple molecular alterations were found in 6/15 (40%) infant acute leukaemias with ALL-1 rearrangements. As to the clinical course, patients with additional lesions had similar clinical outcome with respect to patients with ALL-1 gene rearrangement as the sole genetic aberration. This may support the hypothesis that ALL-1 alterations are genetic events per se sufficient to confer a fully malignant phenotype to the leukaemic clone.

Original languageEnglish
Pages (from-to)308-313
Number of pages6
JournalBritish Journal of Haematology
Volume96
Issue number2
Publication statusPublished - 1997

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Precursor Cell Lymphoblastic Leukemia-Lymphoma
Leukemia
Genes
Gene Rearrangement
Cyclin-Dependent Kinase Inhibitor p16
Cyclin-Dependent Kinase 4
Phenotype
Mutation
p53 Genes
Southern Blotting
Acute Myeloid Leukemia
Sequence Analysis
Clone Cells
Polymerase Chain Reaction
DNA
Neoplasms

Keywords

  • ALL-1
  • infant acute leukaemias
  • p16
  • p53

ASJC Scopus subject areas

  • Hematology

Cite this

Cimino, G., Lanza, C., Elia, L., Lo Coco, F., Gaidano, G., Biondi, A., ... Saglio, G. (1997). Multigenetic lesions in infant acute leukaemias: Correlations with ALL-1 gene status. British Journal of Haematology, 96(2), 308-313.

Multigenetic lesions in infant acute leukaemias : Correlations with ALL-1 gene status. / Cimino, Giuseppe; Lanza, Carlo; Elia, Loredana; Lo Coco, Francesco; Gaidano, Gianluca; Biondi, Andrea; Pastore, Cristina; Serra, Anna; Canaani, Eli; Croce, Carlo Maria; Mandelli, Franco; Saglio, Giuseppe.

In: British Journal of Haematology, Vol. 96, No. 2, 1997, p. 308-313.

Research output: Contribution to journalArticle

Cimino, G, Lanza, C, Elia, L, Lo Coco, F, Gaidano, G, Biondi, A, Pastore, C, Serra, A, Canaani, E, Croce, CM, Mandelli, F & Saglio, G 1997, 'Multigenetic lesions in infant acute leukaemias: Correlations with ALL-1 gene status', British Journal of Haematology, vol. 96, no. 2, pp. 308-313.
Cimino, Giuseppe ; Lanza, Carlo ; Elia, Loredana ; Lo Coco, Francesco ; Gaidano, Gianluca ; Biondi, Andrea ; Pastore, Cristina ; Serra, Anna ; Canaani, Eli ; Croce, Carlo Maria ; Mandelli, Franco ; Saglio, Giuseppe. / Multigenetic lesions in infant acute leukaemias : Correlations with ALL-1 gene status. In: British Journal of Haematology. 1997 ; Vol. 96, No. 2. pp. 308-313.
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AU - Pastore, Cristina

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