MYSTERY OF iAMP

Abstract

Objective: Intrachromosomal amplification of chromosome 21 (iAMP21) is defined as the presence of three or more RUNX1 signals on a single chromosome, or a total of five or more RUNX1 signals per cell. It occurs in 2% of pediatric B-cell acute lymphoblastic leukemia (ALL), but is associated with older age, low white blood cell count, and high risk of relapse.In our study, it was aimed to review our patients with ALL in terms of possible iAMP21 at the time of diagnosis and to evaluate the clinical features. Methodology: The results of the patients who were diagnosed with B-cell ALL between 2012 and 2019 and whose treatment was completed, and whose signal increase in the RUNX1 region in the t(12;21) FISH analysis were detected, were reviewed together with the medical genetics section in terms of possible i amp. Those with 5 or more signal increases on a single gene in RUNX1 were considered as i amp. Results: In the t(12;21) FISH analysis, signal increases were observed in the RUNX 1 region in 15 (8.3%) of 180 B-cell ALL patients included in the study. Although these signal increases varied between 3-4 in 14 patients, 4-7 signal increases were detected in only 1 patient and were considered as iamp. The patient with iamp was a 6-year-old patient with a white blood cell count of 7600/mm3 at presentation and followed in the intermediate risk group. . Bone marrow relapse developed in 2 years. Conclusion: The presence of iAMP21 is associated with a delay in treatment response and increased recurrence in the late period. Patients should be carefully evaluated for iAMP21.