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Updated: Jul 15, 2026

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
[Chronic lymphocytic leukaemia: an autoimmune disorder? Prognostic factors and the current view of pathogenesis]
1Pécsi Tudományegyetem, Altalános Orvostudományi Kar, Patológiai Intézet, Pécs. titkar@pathology.pote.hu
Abstract:
The heterogeneity of clinical course in chronic lymphocytic leukaemia has been known for a long time. The easily applicable staging systems described by Rai and Binet decades ago have represented one of the decisive obstacles against the proper development of clinical decision making as they correlated well with survival data in more advanced diseases, but could not differentiate progressive versus stable diseases of low stages. This might have been responsible for the development of the "watch and wait" clinical strategy potentially resulting in the lack of therapeutical intervention in early due time. Application of recent research data on gene expression, molecular biological, cytogenetic and phenotypic analysis of the malignancy can provide the opportunity of stratifying the disease - although with different predictive value - at the onset or early stages. All these represent a new challenge for the diagnostics and expose important aspects in the management of this work. The author reviews the theory and practice of these diagnostic approaches with special emphasis on the immunoglobulin heavy chain mutational status, expression of CD-38 and ZAP-70 markers as well as the significance of karyotyping and interphase cytogenetics. In the light of current data a putative pathogenetic scheme is outlined implying the fundamental recognition that all individual forms of this heterogeneous disease arise from similar and unique polyreactive - autoreactive B-cell clones which underlies the key role of autoimmunization in the pathogenesis of the disease.
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