Abstract

BackgroundChronic lymphocytic leukemia (CLL) is the most common form of adult leukemia. This disease is genetically heterogeneous, and approximately 85% of patients with CLL harbor chromosomal aberrations that are considered effective prognostic biomarkers. The most frequent aberrations include deletions in 13q14, followed by trisomy 12, and deletions in 11q22.3 and 17p13 (TP53). Currently, fluorescence in situ hybridization (FISH) is the most widely used molecular cytogenetic technique to detect these aberrations. However, FISH is laborious, time-consuming, expensive, and has a low throughput. In contrast, multiplex ligation-dependent probe amplification (MLPA) is a reliable, cost-effective, and relatively rapid technique that can be used as a first-line screening tool and complement with FISH analysis. This study aimed to evaluate the contributions of MLPA as a routine standalone screening platform for recurrent chromosomal aberrations in CLL in comparison to other procedures. Thirty patients with CLL were screened for the most common genomic aberrations using MLPA with SALSA MLPA probemix P038-B1 CLL and FISH. ResultsIn 24 of the 30 cases (80%), the MLPA and FISH results were concordant. Discordant results were attributed to a low percentage of mosaicism. Moreover, the MLPA probemix contains probes that target other genomic areas known to be linked to CLL in addition to those targeting common recurrent CLL aberrations. ConclusionsThe usage of MLPA as the first screening platform followed by FISH technique for only the negative cases is the most appropriate approach for CLL diagnosis and prognosis.

Highlights

  • Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia

  • This study aimed to evaluate the contributions of multiplex ligation-dependent probe amplification (MLPA) as a routine standalone screening platform for recurrent chromosomal aberrations in CLL in comparison to other procedures such as fluorescence in situ hybridization (FISH)

  • The 17p13 deletion and 11q22 deletion were detected in three cases each, and the 14q deletion and trisomy 19 were observed in one patient each (Table 2)

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Summary

Introduction

Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia This disease is genetically heterogeneous, and approximately 85% of patients with CLL harbor chromosomal aberrations that are considered effective prognostic biomarkers. Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia in western countries, accounting for 30% of all leukemia cases. Eid et al Journal of Genetic Engineering and Biotechnology (2021) 19:98 intermediate prognosis, followed by 11q22.3 (ATM; 10– 20%) and 17p13 (TP53; 5–10%) deletions, which are associated with a poor prognosis These aberrations are important prognostic biomarkers for treatment decisionmaking [3]. FISH is a laborious, time-consuming, expensive, and low-throughput procedure relative to other molecular genetic procedures used to detect common aberrations. These aberrations are not usually analyzed in clinical practice [5]

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