Objective: To analyze the characteristics of cytogenetic aberration of adults with Philadelphia chromosome-positive (Ph+) and/or bcr-abl positive (bcr-abl+) acute lymphoblastic leukaemia (ALL), and investigate its influence on patients' outcomes.
Method: Retrospective analysis of 100 adult Ph+ ALL patients from January 1, 1996 to December 31, 2007 was carried out. The type, distribution and frequency of chromosome aberration were summarized, and compared among different subgroups.
Results: 1) In all cases, 72 had chromosome aberrations, including 22 with sole Ph chromosome, 44 Ph+ with additional abnormalities, which included double Ph, monosomy 7, monosomy 20, trisomy 8 trisomy 21, 9p deletion and 22 deletion. 2) Patients with pseudodiploid and hyperdiploid had higher WBC count, and inferior outcome with lower rates of overall survival (OS) and relapse free survival (RFS). 3) Ph+ group also had higher WBC counts and inferior outcome with low OS and RFS rates. There was no statistic significance between sole Ph+ group and Ph plus additional aberrations group. 4) Patients with both abnormal and normal metaphase (AN) and with solely abnormal metaphase (AA) had higher WBC count, less frequent P190 occurrence and inferior outcome than those only normal metaphase (NN) group, whereas, there was no difference between AA and AN groups. 5) Double Ph chromosome had a lower frequency of P190 and inferior OS than non-double Ph group.
Conclusion: Adults with Ph+ ALL have complicated cytogenetic abnormalities, pseudodiploid and hyperdiploid indicate inferior outcome, and double Ph chromosome may be a unfavorable prognostic factor.