Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia Patient

We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 :: transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints ( :: on der(22) and :: on der(9)) at the genomic l...

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Bibliographic Details
Published in:Case reports in hematology 2024, Vol.2024 (1), p.9439134
Main Authors: Pretzsch, Thomas, Progscha, Steve, Burmeister, Thomas
Format: Article
Language:English
Subjects:
Blood tests
Bone marrow
Case Report
Chronic myeloid leukemia
Diagnosis
Kinases
Leukemia
Patients
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Summary:We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 :: transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints ( :: on der(22) and :: on der(9)) at the genomic level. The use of a cryptic splice site in intron 1 of led to the generation of an in-frame :: fusion transcript. The diagnostic difficulties caused by this atypical variant and its implications for diagnostic routine are discussed.
ISSN:2090-6560
2090-6579
DOI:10.1155/2024/9439134