Objectives: To examine the incidence and clinical dynamics of IKZF1 alterations in Chinese adult patients with ALL.Methods: Samples were studied from 328 newly diagnosed adult ALL patients at Peking University People's Hospital from 2007 to 2012 by multiplex real-time quantitative PCR, multiplex fluorescent PCR and sequence analysis for four types of IKZF1 deletions. Albumin (ALB) was the plasmid standard.Results: All correlation coefficients for amplified ALB(albumin) and IKZF1 Δ4-7 deletion plasmids were above 0.99, and the sensitivity of detection was at least ten copies. About 36.3% (95% [CI], 31.1-41.7%) of 328 untreated cases showed IKZF1-deletion. The median IKZF1-deletion copies/ALB copy was 85.8% (0.1%-697.9%). 27 IKZF1-deletion-positive patients (219 samples in total) were followed up after treatment, among them, 18 patients in hematologic remission continued to be tested negative within 8-66 weeks. In 5 relapsed cases, elevated levels of IKZF1 deletion were detected when relapse occurred. In 4 non responders, IKZF1 deletion maintained at high level. Patient with B-cell ALL subtype had much higher IKZF1-deletion rate (40.4%) than those with T-cell ALL subtype (2.8%, P<0.01). In particular, it was higher in common B-cell ALL group than those with other subtypes.
Conclusion:This assay is reliable and sensitive. It is useful in diagnosis and monitoring minimal residual disease in adult ALL. High frequency of IKZF1 deletions occur in adult patients with common B-cell ALL.