[Acute promyelocytic leukaemia with translocations of t(15;17)(q22;q21) and rob(13;21): a case report and literatures review]
| Autor: | Haiya, Zheng, Shenglan, Gong, Mengqiao, Guo, Xianmin, Song, Min, Liu, Hui, Cheng, Xiaoxia, Hu, Jianmin, Wang |
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| Rok vydání: | 2015 |
| Předmět: |
Chromosome Aberrations
易位，遗传 Chromosomes Human Pair 15 Chromosomes Human X Oncogene Proteins Fusion Karyotype Remission Induction Robertsonian translocation 罗伯逊易位 Translocation Genetic Chromosome Banding 论著 Leukemia Promyelocytic Acute 白血病，早幼粒细胞，急性 Humans 疾病特征 Disease attributes Leukemia promyelocyte acute In Situ Hybridization Fluorescence Chromosomes Human Pair 17 |
| Zdroj: | Chinese Journal of Hematology |
| ISSN: | 0253-2727 |
| Popis: | To report an acute promyelocytic leukaemia (APL) case with translocation of rob (13;21) t(15;17) (q22;q21) and review its clinical and laboratory characteristics.Based on routine karyotype analysis and bone marrow morphology, we further used double color double fluorescent in situ hybridization (DCDF-FISH) and reverse transcriptase PCR (RT-PCR) to examine the patient's abnormities on cytogenetic and molecular biology, and reveal the clinical characteristics of this rare translocation also from the related literatures.The clinical manifestation and bone marrow morphology examination of this patient were in accordance with pathologic feature of APL. On first visit, immunophenotyping analysis showed positive myeloid markers. Through R-banding, the patient's karyotype was confirmed as 45, XX, rob(13;21) t(15;17) (q22;q21) [6]/45, XX, rob(13;21) [14]. FISH results showed that 68.9% cells were typical t(15;17) pattern. The positive rates of fusion gene of PML-RARα detected by RT-PCR was 25.8%. Patient was treated by induction and consolidation therapy, the karyotype was 45, XX, rob(13;21 )[20] after complete remission. The positive rate of fusion gene of PML-RARα by FISH and its level were 2.5% and 0.003% respectively.APL with rob (13;21) t(15;17) (q22;q21) was very rare, which was accorded with clinical and laboratory characteristics of APL. The value of chromosome abnormality as a prognostic marker in APL needs to be further observed.. |
| Databáze: | OpenAIRE |
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