title: Simultaneous SIL-TAL1 RT-PCR detection of all tal(d) deletions and identification of novel tal(d) variants.
abstract: Site-specific deletions of the 5' part of the TAL1 gene (tal(d)) are among the most frequent non-random genetic abnormalities in T-cell acute lymphoblastic leukaemia (T-ALL). They are usually detected by PCR from DNA with several primer pairs or by Southern blot analysis. Since tal(d) lead to expression of a SIL-TAL1 fusion transcript, irrespective of the genomic breakpoint, we have used a single monoplex RT-PCR reaction to screen 55 T-ALL patients at diagnosis. SIL-TAL1 transcripts were demonstrated in 12 (22%) cases, including 7/27 (26%) children <15 years of age, 2/8 (25%) adolescents and 2/17 (12%) adults aged >20 years. SIL-TAL1 RT-PCR was preferrable to tal(d) DNA PCR since it allowed the simultaneous detection of tal(d), tal(d2) and two previously undescribed tal(d) variants. SIL-TAL1 RT-PCR screening should therefore increase the detection rate of tal(d) by approximately 15-20%, with an at least comparable sensitivity to tal(d) genomic PCR, and represents a more practical and economic alternative to multiple DNA PCRs or Southern blotting when incorporated into molecular screening for multiple transcripts at diagnosis.
authors.affiliation: CNRS URA 1461, Université Paris V, CHU Necker-Enfants Malades, France.
authors.forename: E
authors.initials: E
authors.lastname: Delabesse
authors.forename: M
authors.initials: M
authors.lastname: Bernard
authors.forename: J
authors.initials: J
authors.lastname: Landman-Parker
authors.forename: F
authors.initials: F
authors.lastname: Davi
authors.forename: D
authors.initials: D
authors.lastname: Leboeuf
authors.forename: B
authors.initials: B
authors.lastname: Varet
authors.forename: F
authors.initials: F
authors.lastname: Valensi
authors.forename: E A
authors.initials: EA
authors.lastname: Macintyre
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005784:Gene Amplification; D017353:Gene Deletion; D006801:Humans; D016130:Immunophenotyping; D015459:Leukemia-Lymphoma, Adult T-Cell / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D011993:Recombinant Fusion Proteins; D014157:Transcription Factors