دورية أكاديمية
De nove Philadelphia chromosome-positive myelodysplastic syndromes with complex karyotype and p230 BCR::ABL fusion transcript: a case report with a literature review
| العنوان: | De nove Philadelphia chromosome-positive myelodysplastic syndromes with complex karyotype and p230 BCR::ABL fusion transcript: a case report with a literature review |
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| المؤلفون: | Jinlong Ma, Jiaheng Guan, Baoan Chen |
| المصدر: | Hematology, Vol 28, Iss 1 (2023) |
| بيانات النشر: | Taylor & Francis Group, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Diseases of the blood and blood-forming organs |
| مصطلحات موضوعية: | Myelodysplastic syndromes, leukemia, ph chromosome, BCR::ABL, Diseases of the blood and blood-forming organs, RC633-647.5 |
| الوصف: | ABSTRACTMyelodysplastic syndromes (MDS) refer to a set of clonal hematopoietic disorders with fusion transcript as disease progression. Breakpoint cluster region/abelson (BCR::ABL) fusion mostly occurs during the progressive phase from MDS to higher stages and acute leukemia transformation. Besides, it is extremely rare reported on the diagnosis of MDS. Here, the first case of transformation of de nove philadelphia (Ph)-positive MDS to chronic myeloid leukemia (CML) with rapid progression to acute myeloid leukemia (AML) was reported. Fluorescence in situ hybridization (FISH) analysis revealed an atypical BCR::ABL positive signal (2R2G1Y) that accounted for 3% at the diagnosis of MDS and increased to 21.4% at information to CML. The result of multiplex reverse transcriptase polymerase chain reaction (RT–PCR) indicated a rearrangement of e19a2 (p230 BCR::ABL). The treatment with 400 mg of imatinib daily at the transformation from MDS to CML led to a hematological response. However, the patient stopped taking imatinib due to the worsening of cytopenias after five weeks of therapy and rapid progression to AML in another two months. The treatment with azacitidine (AZA) and venetoclax (VEN) achieved partial remission (PR). Unfortunately, the patient relapsed six months after PR and died shortly thereafter. In addition, another 16 cases of adult cases that reported MDS with de nove Ph-positive were also reviewed to learn about clinical features and outcomes. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 16078454 1607-8454 |
| Relation: | https://doaj.org/toc/1607-8454 |
| DOI: | 10.1080/16078454.2023.2220220 |
| URL الوصول: | https://doaj.org/article/380c001401df4db782bb01a6cea55458 |
| رقم الأكسشن: | edsdoj.380c001401df4db782bb01a6cea55458 |
| قاعدة البيانات: | Directory of Open Access Journals |
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Full Text Finder | تدمد: | 16078454 |
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| DOI: | 10.1080/16078454.2023.2220220 |