Genomic alterations in chronic lymphocytic leukemia and their correlation with clinico-hematological parameters and disease progression
Shano Naseem, Vishrut KS, Neelam Varma, Pankaj Malhotra
Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Correspondence to: Shano Naseem, M.D.
Department of Hematology, Postgraduate Institute of Medical Research and Edu, Sector 12, Chandigarh 160012, India
E-mail: shanonaseem@yahoo.co.in
Published online: August 4, 2020.
© The Korean Journal of Hematology. All rights reserved.

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Abstract
Background: Chronic lymphocytic leukemia (CLL) is a heterogeneous disease, which is attributed to differences in the genetic characteristics of the leukemic clone. We studied the genomic profile of 52 treatment-naïve CLL patients.
Methods: Genetic analysis was performed by multiplex ligation-dependent probe amplification (MLPA) using the SALSA P038 Probemix (MRC Holland, Amsterdam), which contains probes for 2p (MYCN,ALK,REL), 6q, 8p (TNFRSF10A/B), 8q (EIF3H,MYC), 9p21(CDKN2A/B), 10q (PTEN), 11q (ATM, RDX, PPP2R1B, CADM1), chromosome 12, 13q14 (RB1, DLEU1/2/7, KCNRG, MIR15A), 14q, 17p (TP53) and chromosome 19, and for NOTCH17541-7542delCT, SF3B1K700E, and MYD88L265P mutations.
Results: The median age was 65 years (male:female=2:1). The median hemoglobin, total leukocyte, and platelet counts were 12.4 g/dL, 57.7×109/L, and 176.5×109/L, respectively. At least one genetic abnormality was observed in 34 (65%) patients. The most common abnormality was del(13q14) (deleted DLEU2 and DLEU1/RB1 genes), which was observed in 22 (42%) cases, followed by trisomy 12 [7 (13%) cases]. Del(11q) (deleted ATM, RDX11/PPP2R1B-4) and del(17p) (deleted TP53) were present in 5 (10%) and 2 (4%) cases, respectively. 19p13.2 (CDKN2D-2) amplification and NOTCH1 mutation were found in one case each.
Conclusion: Genetic abnormalities are commonly (65%) observed in CLL patients. Del(13q), which is associated with DLEU2 and DLEU1/RB1 gene deletion, was the most common. Compared with other abnormalities, del(11q) and del(17p) patients presented with cytopenia and higher Binet stage, while those with del(13q14) had a longer time to first treatment.
Keywords: Chronic lymphocytic leukemia, Genetic abnormality, Multiplex ligation-dependent probe amplification


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