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 BCR::ABL1 transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints (BCR::ABL1 on der(22) and ABL1::BCR on der(...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2024/9439134 |
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| Summary: | We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 BCR::ABL1 transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints (BCR::ABL1 on der(22) and ABL1::BCR on der(9)) at the genomic level. The use of a cryptic splice site in intron 1 of ABL1 led to the generation of an in-frame BCR::ABL1 fusion transcript. The diagnostic difficulties caused by this atypical variant and its implications for diagnostic routine are discussed. |
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| ISSN: | 2090-6579 |