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Medicine (Baltimore) ; 100(35): e27134, 2021 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-34477162


RATIONALE: Chronic myelogenous leukemia (CML) with thrombocytosis and complex chromosomal translocation is extremely rare in clinical setting. Here, we reported the clinical and pathological characteristics of CML patients, which were characterized by thrombocytosis and complex Philadelphia chromosome translocation. Moreover, we also introduced our therapeutic schedule for this patient as well as review relative literature. PATIENT CONCERNS: A 24-year-old female presented with night sweating, fatigue, and intermittent fever for 1 month. DIAGNOSIS: Fluorescence in situ hybridization results revealed that breakpoint cluster region (BCR)-Abelson (ABL) gene fusion in 62% of the cells and karyotyping showed a complex 3-way 46, XY, t(9;22;11) (q34;q11;q13) [19/20] translocation. This patient was diagnosed with CML complicated with thrombocytosis and complex Philadelphia chromosome translocation. INTERVENTIONS: The patients received continuously oral imatinib mesylate tablets (400 mg) once a day. OUTCOMES: After treatment with imatinib for 3 months, the BCR/ABLIS was less than 0.1% and achieved major molecular response. Moreover, the BCR/ABLIS of this patient achieved major molecular response. The BCR/ABLIS values at 6 months and 12 months were less than 0.01% and 0.0032%, respectively. And no BCR/ABL fusion was detected in the next 2 years follow-up period. LESSONS: Imatinib might represent a preferred therapeutic option for CML patients with rare thrombocytosis and complex chromosomal translocation. In addition, BCR/ABL fusion gene examination in patients with thrombocytosis might represent an effective strategy to avoid the misdiagnosis of this specific CML population.

Antineoplásicos/uso terapêutico , Mesilato de Imatinib/uso terapêutico , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Cromossomo Filadélfia , Trombocitose/etiologia , Feminino , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/sangue , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Adulto Jovem
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 24(2): 316-20, 2016 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-27150984


OBJECTIVE: To investigate the role of Pim-3 abnomal expression in development of acute myeloid leukemia. METHODS: Semi-quantitative RT-PCR was used to detect the expression of Pim-3 in bone marrow of 47 newly diagnosed and untreated patients with acute myeloid leukemia (AML) and 18 patients with AML after treatment with chemotherapy. At the same time, the bone marrow of 10 cases of non-hematologic malignancies was used as normal control. The difference of the Pim-3 gene expression in bone marrows among the 3 groups was also compared. RESULTS: According to the RT-PCR detection results, the Pim-3 expression level in bone marrow of AML patients before chemotherapy were all significantly lower than those in patients with non-hematologic malignancies (P < 0.01). After chemotherapy, there were no significant differences of the Pim-3 expression level between the patients with acute myeloid leukemia and non-hematologic malignancies (P > 0.05), but the Pim-3 expression level was significantly lower in patients before chemotherapy as compared with that in patients post chemotherapy (P < 0.01). The comparison of Pim-3 expression before and after chemotherapy in remission group showed that Pim-3 expression levels before chemotherapy were all significantly lower than those after chemotherapy (P < 0.01), but there were no significant differences of Pim-3 expression levels between patients before and after chemotherapy in non-remission group (P > 0.05). The Pim-3 expression levels of non-remission patients after chemotherapy were all significantly lower than those of the remission patients after chemotherapy (P < 0.01). CONCLUSION: Pim-3 gene is abnormally expressed in the AML patients before and after chemotherapy, and this gene may be involved in the genesis and development of acute myeloid leukemia.

Leucemia Mieloide Aguda/metabolismo , Proteínas Proto-Oncogênicas/metabolismo , Antineoplásicos/uso terapêutico , Medula Óssea/metabolismo , Expressão Gênica , Humanos , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/genética , Proteínas Proto-Oncogênicas/genética