Role of RT-PCR and FISH in diagnosis and monitoring of acute promyelocytic leukemia

Riferimento: 
Indian J Cancer. 2011 Jan-Mar;48(1):60-7.
Autori: 
Polampalli S, Choughule A, Prabhash K, Amare P, Baisane C, Kabre S, Mahadik S, Shinde S, Nair R, Banavali S.
Fonte: 
Indian J Cancer. 2011 Jan-Mar;48(1):60-7.
Anno: 
2011
Azione: 
La presenza del recettore per l'acido alfa retinoico (RARA) nella leucemia promielocitica (PML) è predittivo di una risposta favorevole all'acido all-trans retinoico (ATRA) e di un significativo miglioramento della sopravvivenza.
Target: 
ATRA – RARA/leucemia promielocitica.

BACKGROUND:
Patients with a presence of Promyelocytic Leukemia-Retinoic Acid Receptor Alpha (PML-RARA) genes rearrangement predict a favorable response to all-trans retinoic acid (ATRA), and a significant improvement in survival. Therefore, establishing the presence of PML-RARA rearrangement is important for optimal patient management.
AIM:
The objective of this study is to compare and assess the role of fluorescent in situ hybridization (FISH) and reverse transcriptase polymerase chain reaction (RT-PCR) in the diagnosis and long-term monitoring of Acute Promyelocytic Leukemia (APL).
MATERIALS AND METHODS:
We compared 145 samples received at different interval of times to analyze the sensitivity of RT-PCR and FISH.
RESULTS:
The failure rate for RT-PCR was 4% at baseline, 13% at induction, and 0% at the end of consolidation. And for FISH it was 8% at baseline, 38% at induction, and 66% at the end of consolidation. The predictive values of relapse in the patients who were positive and negative by RT-PCR, at the end of induction, were 60% and 3%, respectively, and at end of consolidation it was 67% and 4%, respectively. On the other hand the predictive values of relapse in patients who were positive and negative by FISH at end of induction were 57% and 6%, respectively; while at end of consolidation it was 14% who were negative by FISH.
CONCLUSION:
Both RT-PCR and FISH are important for the diagnosis of APL cases, as both techniques complement each other in the absence or failure of any one of them. However, RT-PCR is more sensitive than FISH for the detection of minimal residual disease in the long-term monitoring of these patients. The present study shows that the predictive value of relapse is more associated with minimal residual disease (MRD) results by RT-PCR than that by FISH.

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