Chronic Lymphocytic Leukemia: Updates in Diagnosis and Testing

Published: Monday, Jul 08, 2019
blood cellsDChronic lymphocytic leukemia (CLL) is the most prevalent leukemia in adults in Western countries, with an estimated 20,720 people in the United States expected to be diagnosed in 2019.1,2 The disease is characterized by an accumulation of leukemic cells often appearing as small, mature lymphocytes in the peripheral blood, bone marrow, and lymphoid tissues.1

Over the past decade, diagnosis, testing, and prognostic stratification have substantially improved,3 leading to revisions in guidelines from both the International Workshop on Chronic Lymphocytic Leukemia and the National Comprehensive Cancer Network (NCCN). Among the most significant changes is the increasing essential prognostic role of the immunoglobulin heavy-chain variable (IGHV) mutational status and the clinical relevance of genomic alterations found in CLL.4 This article reviews updates in CLL prevalence and diagnosis, with an emphasis on testing options.


The majority of patients diagnosed with CLL receive diagnosis when absolute lymphocytosis is discovered incidentally during a routine blood count.3 Some patients, however, may exhibit painless lymphadenopathy or present with symptoms caused by splenomegaly or cytopenias.3 The median survival of patients with low-risk disease is 150 months, which is similar to the survival rate of age-matched controls.1 Intermediate-risk disease is associated with a median survival of 71 to 101 months, while high-risk disease is associated with a poorer prognosis and a median survival of 19 months.1

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