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Year : 2022  |  Volume : 5  |  Issue : 1  |  Page : 52-57

Somatic hypermutation in CLL: From bench to bedside

Department of Pathology (Molecular Diagnostics), Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, India

Correspondence Address:
Dr. Shrinidhi Nathany
Department of Pathology (Molecular Diagnostics), Rajiv Gandhi Cancer Institute and Research Centre, Sector 5 Rohini, Sir Chhotu Ram Marg, New Delhi 110085
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jco.jco_9_22

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Chronic lymphocytic leukemia (CLL) is a molecularly heterogeneous disease with a clonal proliferation of B lymphocytes. Immunoglobulin (Ig) sequence analysis is widely employed for prognostic stratification, and European Recommendation in CLL (ERIC) has laid down recommendations for testing and analysis of the same. immunoglobulin heavy chain variable region (IGHV) gene somatic hypermutation has been established as one of the most sensitive prognostic markers in CLL risk stratification, irrespective of the clinical stage or presence of any other alterations. Therapeutic decisions are now based on whether the IGHV is mutated—mCLL (mutated CLL) or unmutated, i.e., uCLL (unmutated CLL). Despite clear-cut clinical observations and differences in both therapeutic response and prognosis of IGHV unmutated group, the exact reason behind this is still elusive. IGHV mutation status has made it to the frontline in both clinical decision-making and the diagnostic battery of CLL testing. This is a focused comprehensive review on the structure, molecular biology, testing recommendations, and prognostic impact of IGHV mutation testing in CLL.

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