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Updated: Aug 5, 2026
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
Characteristics of Clinical Response in Patients With Chronic Myeloid Leukemia With an ABL1 In-Frame Exon 4 Deletion:
Yuto Kaneda1,2, Nobuhiro Kanemura1, Yoshikazu Ikoma1
1Department of Hematology and Infectious Disease Gifu University Hospital Gifu Japan.
Introduction:
In-frame Exon 4 deletion (p.L184_K274del) is a rare ABL1 splicing variant in chronic myeloid leukemia (CML), the clinical significance of which remains unclear.
Methods:
We retrospectively analyzed seven chronic-phase CML patients with this variant, identified by Sanger sequencing during routine monitoring of atypically slow molecular responses.
Results:
All patients achieved hematologic responses; molecular responses, although attained, were often delayed. No patient progressed to advanced phase disease during a median follow-up of 39.0 months.
Conclusion:
Detection of this kinase-inactive variant should not, in itself, be regarded as a definitive resistance mechanism. Larger collaborative studies using quantitative methodologies are needed.
Trial Registration:
The authors have confirmed clinical trial registration is not needed for this submission.