The presence of the translocation t(9;22)(q34;q11), leading to the BCR::ABL1
fusion transcript, is the hallmark of chronic myeloid leukemia (CML).
Nevertheless, atypical presentation at diagnosis can be challenging. However,
although most patients with CML are diagnosed with the e13a2 or e14a2 BCR::
ABL1 fusion transcripts, about 5% of them carry rare BCR::ABL1 fusion
transcripts, such as e19a2, e8a2, e13a3, e14a3, e1a3, and e6a2. In particular,
the e6a2 fusion transcript has been associated with clinically aggressive disease
frequently presenting in accelerated or blast crisis phases. To date, there is
limited evidence on the efficacy of front-line second-generation tyrosine
kinase inhibitors for this genotype. Here, we report two patients, in whom
the diagnosis of CML was challenging. The use of primers recognizing more
distant exons from the common BCR::ABL1 breakpoint region correctly
identified the atypical BCR::ABL1 e6a2 fusion transcript. Treatment with the
second-generation tyrosine kinase inhibitor nilotinib was effective in our
patient expressing the atypical e6a2 BCR::ABL1 fusion transcript.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:88282 |
| Date | 27 November 2023 |
| Creators | Ramdohr, Florian, Fabarius, Alice, Maier, Bettina, Bretschneider, Daniela, Jauch, Anna, Monecke, Astrid, Metzeler, Klaus H., Janssen, Johannes W.G., Schlenk, Richard F., Kayser, Sabine |
| Publisher | Frontiers Media S.A. |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | English |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text |
| Rights | info:eu-repo/semantics/openAccess |
| Relation | 960914 |
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