The acute promyelocytic leukemia (APL)-specific t(15;17) chromosome abnormality is characterized at the molecular level by rearrangement of the PML and RAR alpha genes, resulting in fusion PML/RAR alpha mRNA and a chimeric protein. Besides its relevance in the pathogenesis of the disease, this hybrid gene represents a specific tumor marker that is rapidly detectable by reverse transcriptase-polymerase chain reaction (RT-PCR) in the RNA extracted from leukemic blasts. Several studies have highlighted the clinical relevance of PML/RAR alpha detection, which provides a specific diagnosis, prognostic information, and prediction of relapse when monitoring residual disease during the follow-up. In fact, this hybrid gene is detected in 100% of APLs. Rare cases of patients with a morphological diagnosis of FAB M3 AML who lack the specific PML/RAR alpha abnormality have been reported as being unresponsive to differentiation treatment. Finally, all the studies reported so far on PCR monitoring in APL have documented that the identification of small amounts of residual disease at remission strongly predicts impending relapse. Thus, RT-PCR of the hybrid PML/RAR alpha gene is currently performed prospectively as part of cooperative clinical trials aimed at better addressing post-remission treatment in APL.

Diverio, D., Riccioni, R., Mandelli, F., LO COCO, F. (1995). The PML/RAR alpha fusion gene in the diagnosis and monitoring of acute promyelocytic leukemia. HAEMATOLOGICA, 80(2), 155-160.

The PML/RAR alpha fusion gene in the diagnosis and monitoring of acute promyelocytic leukemia

LO COCO, FRANCESCO
1995-01-01

Abstract

The acute promyelocytic leukemia (APL)-specific t(15;17) chromosome abnormality is characterized at the molecular level by rearrangement of the PML and RAR alpha genes, resulting in fusion PML/RAR alpha mRNA and a chimeric protein. Besides its relevance in the pathogenesis of the disease, this hybrid gene represents a specific tumor marker that is rapidly detectable by reverse transcriptase-polymerase chain reaction (RT-PCR) in the RNA extracted from leukemic blasts. Several studies have highlighted the clinical relevance of PML/RAR alpha detection, which provides a specific diagnosis, prognostic information, and prediction of relapse when monitoring residual disease during the follow-up. In fact, this hybrid gene is detected in 100% of APLs. Rare cases of patients with a morphological diagnosis of FAB M3 AML who lack the specific PML/RAR alpha abnormality have been reported as being unresponsive to differentiation treatment. Finally, all the studies reported so far on PCR monitoring in APL have documented that the identification of small amounts of residual disease at remission strongly predicts impending relapse. Thus, RT-PCR of the hybrid PML/RAR alpha gene is currently performed prospectively as part of cooperative clinical trials aimed at better addressing post-remission treatment in APL.
1995
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15 - MALATTIE DEL SANGUE
English
Adolescent; Adult; Antibiotics, Antineoplastic; Biomarkers, Tumor; Cell Differentiation; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 17; Female; Humans; Leukemia, Promyelocytic, Acute; Male; Middle Aged; Neoplasm Proteins; Oncogene Proteins, Fusion; Polymerase Chain Reaction; Sensitivity and Specificity; Tretinoin; Oncogenes; Translocation, Genetic
Diverio, D., Riccioni, R., Mandelli, F., LO COCO, F. (1995). The PML/RAR alpha fusion gene in the diagnosis and monitoring of acute promyelocytic leukemia. HAEMATOLOGICA, 80(2), 155-160.
Diverio, D; Riccioni, R; Mandelli, F; LO COCO, F
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/161714
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