We describe the fourth case of e6a2 BCR-ABL transcript in a patient with chronic myeloid leukemia (CML), using reverse transcriptase polymerase chain reaction (RT-PCR) and sequencing analysis. The clinical and hematologic features and the aggressive course of disease in our patient and in the others reported in literature lead us to hypothesize that this atypical rearrangement may be associated with a worse prognosis.
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[Chronic myeloid leukemia with e6a2 fusion gene: a case report and literature review].
Zhonghua Xue Ye Xue Za Zhi
March 2024
Department of Hematology, the Second Hospital of Lanzhou University, Lanzhou 730030, China.
Chronic myeloid leukemia (CML) with e6a2 transcript type is very rare in clinic,which is usually related to disease aggressiveness. Its clinical characteristics and relationship with tyrosine kinase inhibitor efficacy are still unclear. In this paper, the clinical characteristics and related laboratory tests of a patient with e6a2 fusion gene positive CML characterized by multiple osteolytic bone destruction throughout the body and eosinophil infiltration in gastrointestinal tract, lymph nodes and other organs were retrospectively analyzed, and the relevant literature was reviewed.
View Article and Find Full Text PDFAtypical presentation of patients with chronic myeloid leukemia in chronic phase-Case report.
Front Oncol
August 2022
Medical Clinic and Policlinic I, Hematology and Cellular Therapy, University Hospital Leipzig, Leipzig, Germany.
Article Synopsis
- The translocation t(9;22)(q34;q11) and its associated fusion transcripts are key indicators of chronic myeloid leukemia (CML), but atypical presentations can complicate diagnosis.
- While most CML patients have common fusion transcripts e13a2 or e14a2, about 5% have rare ones like e6a2, which is linked to more aggressive disease.
- In a report of two challenging cases, the e6a2 fusion transcript was successfully identified using advanced testing, and treatment with nilotinib, a second-generation tyrosine kinase inhibitor, showed effectiveness in one patient.
Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with e1a3 BCR-ABL1 transcript in a Nigerian with sickle cell anemia: a case report.
J Med Case Rep
October 2021
Department of Haematology and Blood Transfusion, Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife, Nigeria.
Background: The occurrence of acute leukemia in patients with sickle cell anemia is uncommon. The Philadelphia chromosome is the hallmark of chronic myeloid leukemia. However, it may also be associated with acute lymphoblastic leukemia and acute myeloblastic leukemia.
View Article and Find Full Text PDFAssessment of individual molecular response in chronic myeloid leukemia patients with atypical BCR-ABL1 fusion transcripts: recommendations by the EUTOS cooperative network.
J Cancer Res Clin Oncol
October 2021
Abteilung Hämatologie/Onkologie, Klinik für Innere Medizin II, Universitätsklinikum Jena, Am Klinikum 1, 07747, Jena, Germany.
Purpose: Approximately 1-2% of chronic myeloid leukemia (CML) patients harbor atypical BCR-ABL1 transcripts that cannot be monitored by real-time quantitative PCR (RT-qPCR) using standard methodologies. Within the European Treatment and Outcome Study (EUTOS) for CML we established and validated robust RT-qPCR methods for these patients.
Methods: BCR-ABL1 transcripts were amplified and sequenced to characterize the underlying fusion.
Optimal Response in a Patient With CML Expressing E6A2 Fusion Transcript With Nilotinib Therapy: A Case Report.
In Vivo
February 2021
Division of Hematology and Bone Marrow Transplant, A.O.U. Policlinico-Vittorio Emanuele, Catania, Italy.
Background/aim: The Philadelphia chromosome is considered the hallmark of chronic myeloid leukemia (CML). However, although most patients with CML are diagnosed with the e13a2 or e14a2 breakpoint cluster region (BCR)-Abelson 1 (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; there is limited evidence on the efficacy of front-line second-generation tyrosine kinase inhibitors for this genotype.
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