Jovanovic Jelena V, Score Joannah, Waghorn Katherine, Cilloni Daniela, Gottardi Enrico, Metzgeroth Georgia, Erben Philipp, Popp Helena, Walz Christoph, Hochhaus Andreas, Roche-Lestienne Catherine, Preudhomme Claude, Solomon Ellen, Apperley Jane, Rondoni Michela, Ottaviani Emanuela, Martinelli Giovanni, Brito-Babapulle Finella, Saglio Giuseppe, Hehlmann Rüdiger, Cross Nicholas C P, Reiter Andreas, Grimwade David
Department of Medical and Molecular Genetics, Guy's Hospital, King's College London, UK.
Blood. 2007 Jun 1;109(11):4635-40. doi: 10.1182/blood-2006-10-050054. Epub 2007 Feb 13.
The FIP1L1-PDGFRA fusion gene is a recurrent molecular lesion in eosinophilia-associated myeloproliferative disorders, predicting a favorable response to imatinib mesylate. To investigate its prevalence, 376 patients with persistent unexplained hypereosinophilia were screened by the United Kingdom reference laboratory, revealing 40 positive cases (11%). To determine response kinetics following imatinib, real-time quantitative-polymerase chain reaction (RQ-PCR) assays were developed and evaluated in samples accrued from across the European LeukemiaNet. The FIP1L1-PDGFRA fusion transcript was detected at a sensitivity of 1 in 10(5) in serial dilution of the EOL-1 cell line. Normalized FIP1L1-PDGFRA transcript levels in patient samples prior to imatinib varied by almost 3 logs. Serial monitoring was undertaken in patients with a high level of FIP1L1-PDGFRA expression prior to initiation of imatinib (100 mg/d-400 mg/d). Overall, 11 of 11 evaluable patients achieved at least a 3-log reduction in FIP1L1-PDGFRA fusion transcripts relative to the pretreatment level within 12 months, with achievement of molecular remission in 9 of 11 (assay sensitivities 1 in 10(3)-10(5)). In 2 patients, withdrawal of imatinib was followed by a rapid rise in FIP1L1-PDGFRA transcript levels. Overall, these data are consistent with the exquisite sensitivity of the FIP1L1-PDGFRalpha fusion to imatinib, as compared with BCR-ABL, and underline the importance of RQ-PCR monitoring to guide management using molecularly targeted therapies.
FIP1L1-PDGFRA融合基因是嗜酸性粒细胞增多相关骨髓增殖性疾病中一种常见的分子病变,提示对甲磺酸伊马替尼有良好反应。为了研究其发生率,英国参考实验室对376例持续性不明原因的嗜酸性粒细胞增多患者进行了筛查,发现40例阳性病例(11%)。为了确定伊马替尼治疗后的反应动力学,在欧洲白血病网络收集的样本中开发并评估了实时定量聚合酶链反应(RQ-PCR)检测方法。在EOL-1细胞系的系列稀释样本中,FIP1L1-PDGFRA融合转录本的检测灵敏度为1/10⁵。伊马替尼治疗前患者样本中FIP1L1-PDGFRA转录本的标准化水平相差近3个对数。对伊马替尼起始治疗前FIP1L1-PDGFRA表达水平较高(100mg/d - 400mg/d)的患者进行了系列监测。总体而言,11例可评估患者中有11例在12个月内相对于治疗前水平,FIP1L1-PDGFRA融合转录本至少降低了3个对数,11例中有9例实现了分子缓解(检测灵敏度为1/10³ - 1/10⁵)。在2例患者中,停用伊马替尼后FIP1L1-PDGFRA转录本水平迅速上升。总体而言,这些数据与FIP1L1-PDGFRα融合对伊马替尼的高度敏感性一致,与BCR-ABL相比,强调了RQ-PCR监测对指导分子靶向治疗管理的重要性。