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Updated: May 19, 2026
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
Diagnostic problems among chronic lymphocytic leukemia and other indolent B-cell leukemias in a Japanese population
Yasushi Isobe1, Junichi Tomomatsu, Yutaka Tsukune
1Department of Hematology, Juntendo University School of Medicine, Japan. yisobe@juntendo.ac.jp
Insights
Diagnosing chronic lymphocytic leukemia (CLL) in Japan is challenging. Strict application of immunophenotypic scoring and specific tests like FISH are crucial for accurate Japanese CLL diagnosis.
Area of Science:
- Hematology
- Oncology
- Immunology
Background:
- Japanese chronic lymphocytic leukemia (CLL) presents diagnostic challenges due to low incidence and heterogeneous presentation.
- Morphological and immunophenotypic variations complicate accurate diagnosis in the Japanese population.
Purpose of the Study:
- To clarify diagnostic challenges specific to Japanese chronic lymphocytic leukemia (CLL).
- To identify key factors for accurate diagnosis of Japanese CLL.
Main Methods:
- Retrospective analysis of 48 cases of CLL and other indolent B-cell leukemias between 2006 and 2011.
- Diagnosis of true CLL based on comprehensive clinical, laboratory, immunophenotypic, and cytogenetic data.
Main Results:
- Only 58.3% (28/48) of cases were confirmed as true CLL.
- Morphological evaluation alone was insufficient to differentiate CLL from other indolent B-cell leukemias.
- Stricter application of the CLL immunophenotypic score is recommended for Japan compared to Western countries.
Conclusions:
- Fluorescence in situ hybridization (FISH) for CCND1/IGH is a valuable diagnostic tool.
- Leukocytosis and lymphadenopathy at diagnosis are important indicators for Japanese CLL.
- Morphological evaluation using naturally air-dried preparations aids in correct Japanese CLL diagnosis.
Objective:
Japanese chronic lymphocytic leukemia (CLL) provides a diagnostic dilemma due to the low incidence and the heterogeneity shown in its morphology and immunophenotype. We clarified the diagnostic problems in Japanese CLL through our retrospective observation.
Methods:
Between 2006 and 2011, we found a total of 48 cases with CLL and other indolent B-cell leukemias. We made a diagnosis of true CLL based on clinical, laboratory, immunophenotypic and cytogenetic data.
Results:
Among the 48 cases, only 28 cases (58.3%) were diagnosed with true CLL. Morphologic evaluation using a forced-air dried preparation alone is not helpful to distinguish CLL from other indolent B-cell leukemias, including hairy cell leukemia, mantle cell lymphoma, lymphoplasmacytic lymphoma, and splenic marginal zone lymphoma. CLL immunophenotypic score should be more strictly applied in Japan than in Western countries.
Conclusion:
Fluorescence in situ hybridization for CCND1/IGH, the presence of leukocytosis and lymphadenopathy at diagnosis, and the morphological evaluation using naturally air dried preparations are important clues to make a correct diagnosis of Japanese CLL.
