Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report
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::...
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| Format: | Article |
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Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2022.960914/full |
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| author | Florian Ramdohr Alice Fabarius Bettina Maier Daniela Bretschneider Anna Jauch Astrid Monecke Klaus H. Metzeler Johannes W. G. Janssen Richard F. Schlenk Richard F. Schlenk Richard F. Schlenk Sabine Kayser Sabine Kayser |
| author_facet | Florian Ramdohr Alice Fabarius Bettina Maier Daniela Bretschneider Anna Jauch Astrid Monecke Klaus H. Metzeler Johannes W. G. Janssen Richard F. Schlenk Richard F. Schlenk Richard F. Schlenk Sabine Kayser Sabine Kayser |
| author_sort | Florian Ramdohr |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T02:01:37Z |
| format | Article |
| id | doaj.art-63186edfcbc94beea493ea00d3268656 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-13T02:01:37Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-63186edfcbc94beea493ea00d32686562022-12-22T03:07:36ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2022-08-011210.3389/fonc.2022.960914960914Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case reportFlorian Ramdohr0Alice Fabarius1Bettina Maier2Daniela Bretschneider3Anna Jauch4Astrid Monecke5Klaus H. Metzeler6Johannes W. G. Janssen7Richard F. Schlenk8Richard F. Schlenk9Richard F. Schlenk10Sabine Kayser11Sabine Kayser12Medical Clinic and Policlinic I, Hematology and Cellular Therapy, University Hospital Leipzig, Leipzig, GermanyDepartment of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, GermanyDepartment of Internal Medicine V, University Hospital Heidelberg, Heidelberg, GermanyMedical Clinic and Policlinic I, Hematology and Cellular Therapy, University Hospital Leipzig, Leipzig, GermanyInstitute of Human Genetics, University Heidelberg, Heidelberg, GermanyDepartment of Diagnostics, Institute of Pathology, University Hospital Leipzig, Leipzig, GermanyMedical Clinic and Policlinic I, Hematology and Cellular Therapy, University Hospital Leipzig, Leipzig, GermanyInstitute of Human Genetics, University Heidelberg, Heidelberg, GermanyDepartment of Internal Medicine V, University Hospital Heidelberg, Heidelberg, GermanyNCT Trial Center, National Center of Tumor Diseases, German Cancer Research Center (DKFZ), Heidelberg, GermanyDepartment of Medical Oncology, National Center of Tumor Diseases (NCT), Heidelberg University Hospital, Heidelberg, GermanyMedical Clinic and Policlinic I, Hematology and Cellular Therapy, University Hospital Leipzig, Leipzig, GermanyNCT Trial Center, National Center of Tumor Diseases, German Cancer Research Center (DKFZ), Heidelberg, GermanyThe 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.https://www.frontiersin.org/articles/10.3389/fonc.2022.960914/fullchronic myedoid leukemia (CML)atypical transcriptsBCR-ABL +e6a2tyrosine kinase inhibitorsoutcome |
| spellingShingle | Florian Ramdohr Alice Fabarius Bettina Maier Daniela Bretschneider Anna Jauch Astrid Monecke Klaus H. Metzeler Johannes W. G. Janssen Richard F. Schlenk Richard F. Schlenk Richard F. Schlenk Sabine Kayser Sabine Kayser Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report Frontiers in Oncology chronic myedoid leukemia (CML) atypical transcripts BCR-ABL + e6a2 tyrosine kinase inhibitors outcome |
| title | Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report |
| title_full | Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report |
| title_fullStr | Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report |
| title_full_unstemmed | Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report |
| title_short | Atypical presentation of patients with chronic myeloid leukemia in chronic phase—Case report |
| title_sort | atypical presentation of patients with chronic myeloid leukemia in chronic phase case report |
| topic | chronic myedoid leukemia (CML) atypical transcripts BCR-ABL + e6a2 tyrosine kinase inhibitors outcome |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2022.960914/full |
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