Molecular monitoring of the myl/retinoic acid receptor-α fusion gene in acute promyelocytic leukemia by polymerase chain reaction

A. Biondi, A. Rambaldi, P. P. Pandolfi, V. Rossi, G. Giudici, M. Alcalay, F. Lo Coco, D. Diverio, E. M. Pogliani, E. M. Lanzi, F. Mandelli, G. Masera, T. Barbui, P. G. Pelicci

Research output: Contribution to journalArticle

Abstract

The acute promyelocytic leukemia (APL) t(15;17) translocation generates a myl/retinoic acid receptor-α (RAR-α) chimeric gene that is transcribed as a fusion myl/RAR-α messenger RNA. Using primer sets derived from RAR-α and myl cDNAs, we were able to amplify the breakpoint sites of the fusion transcripts of all 35 APL RNA samples by reverse polymerase chain reaction (PCR) and nested primer approach of two rounds of amplification. DNA fragments of different size were obtained according to the chromosome 15 break-points (intron 3-bcr 3; exon 6-bcr 2; and intron 6-bcr 1). bcr 1 and bcr 3 represent the regions of the myl locus most frequently involved among APL (48.5 and 34.2 of cases, respectively); bcr 3 constitutes 62.5% of cases among M3V as compared with 25.9% of M3 cases. The feasibility of monitoring the APL clone by PCR analysis in five APL patients who received different treatment (chemotherapy, all-trans-retinoic acid or bone marrow transplantation) was evaluated. In five of nine bone marrow samples of patients in complete remission, t(15;17)-positive cells could be detected by PCR analysis. We conclude that PCR amplification of the myl/RAR-α junctions represents the easiest and rapid method for diagnosis and monitoring of the APL clone.

Original languageEnglish
Pages (from-to)492-497
Number of pages6
JournalBlood
Volume80
Issue number2
Publication statusPublished - 1992

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Acute Promyelocytic Leukemia
Retinoic Acid Receptors
Gene Fusion
Polymerase chain reaction
Fusion reactions
Genes
Polymerase Chain Reaction
Monitoring
Introns
Amplification
Bone
Chemotherapy
Chromosomes
Clone Cells
Tretinoin
Chromosomes, Human, Pair 15
Chromosome Breakage
Exons
Complementary DNA
Cells

ASJC Scopus subject areas

  • Hematology

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Molecular monitoring of the myl/retinoic acid receptor-α fusion gene in acute promyelocytic leukemia by polymerase chain reaction. / Biondi, A.; Rambaldi, A.; Pandolfi, P. P.; Rossi, V.; Giudici, G.; Alcalay, M.; Lo Coco, F.; Diverio, D.; Pogliani, E. M.; Lanzi, E. M.; Mandelli, F.; Masera, G.; Barbui, T.; Pelicci, P. G.

In: Blood, Vol. 80, No. 2, 1992, p. 492-497.

Research output: Contribution to journalArticle

Biondi, A, Rambaldi, A, Pandolfi, PP, Rossi, V, Giudici, G, Alcalay, M, Lo Coco, F, Diverio, D, Pogliani, EM, Lanzi, EM, Mandelli, F, Masera, G, Barbui, T & Pelicci, PG 1992, 'Molecular monitoring of the myl/retinoic acid receptor-α fusion gene in acute promyelocytic leukemia by polymerase chain reaction', Blood, vol. 80, no. 2, pp. 492-497.
Biondi, A. ; Rambaldi, A. ; Pandolfi, P. P. ; Rossi, V. ; Giudici, G. ; Alcalay, M. ; Lo Coco, F. ; Diverio, D. ; Pogliani, E. M. ; Lanzi, E. M. ; Mandelli, F. ; Masera, G. ; Barbui, T. ; Pelicci, P. G. / Molecular monitoring of the myl/retinoic acid receptor-α fusion gene in acute promyelocytic leukemia by polymerase chain reaction. In: Blood. 1992 ; Vol. 80, No. 2. pp. 492-497.
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AU - Rossi, V.

AU - Giudici, G.

AU - Alcalay, M.

AU - Lo Coco, F.

AU - Diverio, D.

AU - Pogliani, E. M.

AU - Lanzi, E. M.

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AU - Masera, G.

AU - Barbui, T.

AU - Pelicci, P. G.

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AB - The acute promyelocytic leukemia (APL) t(15;17) translocation generates a myl/retinoic acid receptor-α (RAR-α) chimeric gene that is transcribed as a fusion myl/RAR-α messenger RNA. Using primer sets derived from RAR-α and myl cDNAs, we were able to amplify the breakpoint sites of the fusion transcripts of all 35 APL RNA samples by reverse polymerase chain reaction (PCR) and nested primer approach of two rounds of amplification. DNA fragments of different size were obtained according to the chromosome 15 break-points (intron 3-bcr 3; exon 6-bcr 2; and intron 6-bcr 1). bcr 1 and bcr 3 represent the regions of the myl locus most frequently involved among APL (48.5 and 34.2 of cases, respectively); bcr 3 constitutes 62.5% of cases among M3V as compared with 25.9% of M3 cases. The feasibility of monitoring the APL clone by PCR analysis in five APL patients who received different treatment (chemotherapy, all-trans-retinoic acid or bone marrow transplantation) was evaluated. In five of nine bone marrow samples of patients in complete remission, t(15;17)-positive cells could be detected by PCR analysis. We conclude that PCR amplification of the myl/RAR-α junctions represents the easiest and rapid method for diagnosis and monitoring of the APL clone.

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