Cytogenetic abnormalities detected by fluorescent in situ hybridization (FISH) can predict differences in survival in patients with CLL. Patients (pts) with the 13q14 deletion experience a longer median survival that those with the 17p13.1 deletion. Overexpression of ZAP-70 and CD38 correlate with a poor prognosis. Data on 44 pts currently enrolled on a prospective CLL prognostic study were analyzed for cytogenetic abnormalities by FISH and CD38 by flow. Pt age ranged from 25 to 85 (median 59). 25/44 patients (57%) were followed without any therapy. Zap-70 expression was measured by immunohistochemistry using a monoclonal antibody to ZAP-70 (clone 2F3.2).

Results: 22/44 (50%) pts were found to have abnormal cytogenetics. Of the 22 abnormalities, 17 had a 13q14 deletion (including one with an additional 11q22.31 deletion, and two with nullisomy 13q), five patients had trisomy 12, one patient a 17 p13.1 deletion. 8/44 patients overexpressed CD38. Of the pts with an isolated 13q deletion, 12/16 (75%) were CD38 negative and 10/17 (59%) were followed without any therapy, compared to 20/27 (74%) and 14/27 (52%) in those with other cytogenetic features respectively. Of those with other abnormal FISH findings, 4/5 pts (90%) with trisomy 12 were CD38 negative, a patient with 17p13.1 deletion and another patient with both 13q14 and 11q deletion were also CD38 positive. Of the patients with normal FISH results 19/21 (90%) were CD38 negative. ZAP-70 overexpression was noted in 22/26 pts with available data including 8/10 (80%) patients with and 13/26 (50%) patients without the 13q del.

Conclusion: The presence of the 13q14 deletion appeared to be independent of CD38 expression. Further studies to determine the association of 13q14 deletion with ZAP-70 expression are warranted, as is the correlation with clinical data.

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