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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| Format: | Article |
| Language: | English |
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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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| author | Thomas Pretzsch Steve Progscha Thomas Burmeister |
| author_facet | Thomas Pretzsch Steve Progscha Thomas Burmeister |
| author_sort | Thomas Pretzsch |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7e33989e82164897a9c8a120460b2edd |
| institution | DOAJ |
| issn | 2090-6579 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-7e33989e82164897a9c8a120460b2edd2025-08-20T02:51:27ZengWileyCase Reports in Hematology2090-65792024-01-01202410.1155/2024/9439134Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia PatientThomas Pretzsch0Steve Progscha1Thomas Burmeister2Labor Berlin Charité-VivantesMVZ Leipzig MitteLabor Berlin Charité-VivantesWe 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.http://dx.doi.org/10.1155/2024/9439134 |
| spellingShingle | Thomas Pretzsch Steve Progscha Thomas Burmeister Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia Patient Case Reports in Hematology |
| title | Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia Patient |
| title_full | Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia Patient |
| title_fullStr | Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia Patient |
| title_full_unstemmed | Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia Patient |
| title_short | Diagnostic Ambiguity Caused by an Atypical e18a2 BCR::ABL1 Transcript in a Chronic Myeloid Leukemia Patient |
| title_sort | diagnostic ambiguity caused by an atypical e18a2 bcr abl1 transcript in a chronic myeloid leukemia patient |
| url | http://dx.doi.org/10.1155/2024/9439134 |
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