急性髓系白血病FLT3基因突变:与血液学、免疫表型和细胞遗传学特征的相关性

Sunitha Shankaralingappa, Hemangi Joshi, J. Patel, P. Patel, Jyoti Sawhney
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引用次数: 1

摘要

在急性髓性白血病(AML)中,fms样酪氨酸激酶3-内串联重复(FLT3-ITD)是一种常见的驱动突变,与高肿瘤负荷和不良预后相关。这种突变在正常核型AML中很常见,这种患者白细胞计数高。这种突变的存在可以通过日常实践中的某些血液学和免疫表型特征来预测。目的研究FLT3基因突变与血液学和免疫表型之间的相关性。材料和方法在印度西部的一个三级保健癌症中心,记录了2016年至2019年期间424名成人和儿童AML患者的FLT3突变的形态学、血液学、免疫表型和细胞遗传学特征。爆炸按照法国-美国-英国的方法分类。通过血清乳酸脱氢酶(LDH)水平、白细胞计数和外周涂片细胞百分比来评估肿瘤负荷。结果424例AML患者中,FLT3-ITD和flt3 -酪氨酸激酶结构域突变分别为72例和25例。FLT3突变患者肿瘤负荷高,表现为白细胞计数(p < 0.001)、外周血(p = 0.01)和骨髓(p = 0.03)细胞百分率高,血清LDH高(平均777.8比586;p = 0.10)。他们还具有高血小板计数(p < 0.001)。形态学,免疫表型和细胞遗传学特征也已在研究中提出。结论本研究的观察结果表明,明确的血液学和免疫表型特征以及血清LDH水平升高可作为AML患者FLT3突变的替代标记和指标。
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FLT3 Gene Mutation in Acute Myeloid Leukemia: Correlation with Hematological, Immunophenotypic, and Cytogenetic Characteristics
Abstract Introduction In acute myeloid leukemia (AML), FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) is a common driver mutation associated with high tumor burden and poor prognosis. This mutation is common in normal karyotype AML and such patients have high leukocyte count. The presence of this mutation can be predicted by certain hematological and immunophenotypic characteristics in day-to-day practice. Objective This study was undertaken to assess the strength of association between FLT3 gene mutation and hematological and immunophenotypic characteristics. Materials and Methods Morphological, hematological, immunophenotypic, and cytogenetic characteristics of FLT3 mutations recorded in 424 patients of AML in adults and children between 2016 and 2019 in a tertiary care cancer center in Western India. Blasts were classified according to French-American-British method. Tumor burden was assessed by serum lactate dehydrogenase (LDH) levels, leucocyte count, and peripheral smear blast percentage. Results Out of 424 cases, FLT3-ITD and FLT3-tyrosine kinase domain mutation were found in 72 and 25 AML patients, respectively. Patients with FLT3 mutation had high tumor burden, characterized by high leukocyte count (p < 0.001), peripheral blood (p = 0.01) and bone marrow (p = 0.03) blast percentage, and high serum LDH (mean 777.8 vs. 586; p = 0.10) compared with FLT3-negative patients. They also featured high platelet count (p < 0.001). Morphological, immunophenotypic, and cytogenetic characteristics also have been presented in the study. Conclusion Observations of the study suggest the presence of definitive hematological and immunophenotypic characteristics along with raised serum LDH levels serve as surrogate markers and indicators of FLT3 mutation in AML patients.
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