Combined Study of Cytogenetics and Fluorescence in Situ Hybridization (FISH) Analysis in Childhood AcuteLymphoblastic Leukemia (ALL) in a Tertiary Cancer Centre in South India

FISH is one of the most sensitive molecular methods to detect genetic abnormalities with DNA probes.When cytogenetic studies are normal or insufficient, FISH may detect cryptic rearrangements, rare or slowlyproliferative abnormal populations in non-mitotic cells. We cytogenetically evaluated 70 childhood ALL - 67.1%were found to have an abnormal karyotype. The 23 patients (32.9%) with a normal karyotype were analyzedby FISH applying two probes; TEL/AML1 and MYB which detect cryptic rearrangements of t(12;21)(p13;q22)and deletion of (6q) respectively, associated with a good prognosis. Out of 23 patients, one was positive fort(12;21)(p13;q22) (4.3%). None of our patients were positive for MYB del(6q). Two patients showed an extrasignal for MYB on chromosomes other than 6 (8.6 %) indicating amplification or duplication. Findings werecompared with the available literature. Our study clearly indicated the integrated FISH screening method toincrease the abnormality detection rate in a narrow range. FISH is less useful for diagnostic study of patientswith suspected del(6q) but it helps in detecting known cryptic rearrangements as well as identification of newabnormalities(translocation , duplication and amplification) at the gene level.