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.

Cimino, G., Lanza, C., Elia, L., LO COCO, F., Gaidano, G., Biondi, A., et al. (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

LO COCO, FRANCESCO;
1997-02-01

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.
feb-1997
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15 - MALATTIE DEL SANGUE
English
Acute Disease; Blotting, Southern; Carrier Proteins; Cyclin-Dependent Kinase Inhibitor p16; Exons; Female; Gene Deletion; Gene Rearrangement; Genes, p53; Genotype; Homozygote; Humans; Infant; Karyotyping; Leukemia, Lymphoid; Leukemia, Myeloid; Male; Mutation; Phenotype; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Cimino, G., Lanza, C., Elia, L., LO COCO, F., Gaidano, G., Biondi, A., et al. (1997). Multigenetic lesions in infant acute leukaemias: correlations with ALL-1 gene status. BRITISH JOURNAL OF HAEMATOLOGY, 96(2), 308-313.
Cimino, G; Lanza, C; Elia, L; LO COCO, F; Gaidano, G; Biondi, A; Pastore, C; Serra, A; Canaani, E; Croce, C; Mandelli, F; Saglio, G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/161736
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