PCR as a Diagnostic Tool in ALL: A Comparison Between Cytogenetic and Polymerase Chain Reaction Analysis in Pediatric Patients with Acute Lymphoblastic Leukemia

The E2A/PBXl and the BCR/ ABL fusion genes are formed by the t(l; 19)(q23;p13) and the t(9; 22)(q34; q 11), respectively, and encode oncoproteins which are thought to play an important role in the development of acute lymphoblastic leukemia (ALL) subtypes associated with adverse prognosis [1–3]. The use of the polymerase chain reaction (PCR) for the detection of these genetic rearrangements may offer significant advantages over cytogenetic techniques which are often unsatisfactory in patients with ALL and furthermore, provides a useful tool for monitoring of residual disease. However, it has not been evaluated yet whether the employment of PCR at the time of diagnosis improves the detection rate of these clinically relevant genetic anomalies.