The percentage of deletion of the B-cell neoplasia-associated gene with multiple splicing ( an indicator for the prognosis of CLL)

Nahela A. Shalaby¹, Dina A. Fouad¹, Doaa G. Eissa¹, Rasha I. Ibrahim^2
1 Department of Clinical Pathology, Ain Shams University, Cairo, Egypt
² Department of Internal Medicine, Ain Shams University, Cairo, Egypt

Correspondence Address:
Rasha I. Ibrahim
Department of Internal Medicine, Faculty of Medicine, Ain Shams University, 11535 Cairo
Egypt

Source of Support: None, Conflict of Interest: None

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DOI: 10.7123/01.EJH.0000419283.17651.23

Deletion of the B-cell neoplasia-associated gene with multiple splicing (BCMS) maps to 13q14 is the most common genetic abnormality in B-chronic lymphocytic leukaemia (B-CLL) patients. Previously, CLL patients with del 13q14.1 were known to have a favourable outcome. However, recent research has shown that increased percentage of cells with del 13q may lead to a poor prognosis or may exert an adverse effect on the biological characteristics of this disease.

To assess the influence of the number of malignant cells carrying del 13q14 (BCMS) on the clinical characteristics and prognosis of CLL patients.

Fluorescence in-situ hybridization technique using a locus-specific identifier 13q14 probe was applied on 76 peripheral blood samples of B-CLL patients, in addition to the routine panel of probes (locus-specific identifier 17p13,11q23 and centromeric 12) together with immunophenotyping using the routine panel for lymphoproliferative disorder.

Deletion of 13q14 was detected in 40/76 (52.6%) patients. Those patients with greater than 84% positive cells for the deletion had a statistically significant association with advanced clinical Rai staging, lymphocyte doubling time less than 12 months, lower Hb level, higher total leucocytic count and lower platelet count. Follow-up of all patients showed that 30/76 (39.5%) patients showed a good therapeutic response; 28/30 (93.4%) of the patients were positive for 13q14 (BCMS) deletion, with a percent of cells ranging from 12 to 67%. The remaining 46/76 (60.5%) patients showed a poor therapeutic response; 12/46 (26.1%) of these patients were 13q14 (BCMS) positive, with a percent of positive cells ranging from 84 to 96%. Deletions in 17p13 were detected in 8/76 (10.5%), trisomy 12 was found in 10/76 (13.1%) and 11q23 rearrangements were found in 12/76 (15.7%) patients.

The prognostic significance of del 13q14 is dependent on the percentage of positive cells for this deletion. A high number of losses in 13q14 are associated with a poor prognosis.