现实生活中CLL的诊断和治疗方法:托斯卡纳地区专家小组的新建议

IF 0.4 Q4 HEALTH CARE SCIENCES & SERVICES Farmeconomia-Health Economics and Therapeutic Pathways Pub Date : 2020-02-10 DOI:10.7175/fe.v21i1.1452
M. Bocchia, A. Bosi, E. Capochiani, S. Ciolli, R. Danesi, S. Galimberti, A. Gozzetti, S. Moretti, U. Occhini, M. Petrini
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引用次数: 0

摘要

背景:近年来,基因组和体细胞改变在慢性淋巴细胞白血病(CLL)的发病机制中发挥了关键作用,并据此确定了新的预后因素。目的:描述一种现实生活中的CLL诊断和治疗方法,该方法考虑了基因组和躯体预后因素在发展为进展性疾病的风险分层和治疗决策中的作用。方法:在两次专家会议上,来自托斯卡纳地区的十位关键意见领袖制定并验证了这项新提案。所建议的方法来自他们在日常临床实践中的经验,并得到意大利指南建议、临床试验结果和药物处方条件的支持。结果:除了TP53缺失或突变状态外,专家小组强调了自诊断以来IGHV突变状态表征的重要性,以确定将有更积极进展的患者。此外,在开始治疗之前,为了获得有用的预后信息和选择治疗的适应症,他们建议进行细胞遗传学分析,检测del(11q)、12三体、del(13q)、del(17p),对受刺激的CLL细胞进行常规核型分析,进行TP53测序,并进行分子遗传学分析,以检测IGHV突变状态。结论:专家小组认识到传统分期系统在识别病程更具侵袭性的患者和预测治疗反应方面的局限性,并建议采用现实生活中的CLL诊断和治疗方法,根据最近对CLL的了解有所提高的进展,更新当前的患者管理。
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Real-life Diagnostic and Therapeutic Approach to CLL: A New Proposal from an Expert Panel in Tuscany Region
BACKGROUND: In the last years genomic and somatic alterations have shown to play a pivotal role in the pathogenesis of chronic lymphocytic leukemia (CLL) and new prognostic factors have been identified accordingly. AIM: To describe a real-life diagnostic and therapeutic approach to CLL that takes into account the role of genomic and somatic prognostic factors in the risk stratification of developing progressive disease, and treatment decision. METHODS: This new proposal has been developed and validated by ten key opinion leaders from Tuscany Region during two Expert Meetings. The approach suggested comes from their experience in daily clinical practice and is supported by guidelines recommendations, clinical trials results, and drugs prescribing conditions in Italy. RESULTS: Beside TP53 deletion or mutated status, the Expert Panel highlighted the importance of the IGHV mutation status characterization, since the diagnosis, in order to identify patients who will have a more aggressive progression. Furthermore, just before starting treatment, to obtain useful prognostic information and indication in the selection of the therapy, they recommend cytogenetic analysis for the detection of del(11q), trisomy 12, del(13q), del(17p), conventional karyotyping of stimulated CLL cells, TP53 sequencing, and molecular genetic analysis to detect IGHV mutation status. CONCLUSIONS: The Expert Panel recognized the limitations associated with traditional staging systems in identifying patients who will have a more aggressive disease course and predicting response to treatment and suggested a real-life diagnostic and therapeutic approach to CLL to update the current patient management in light of recent advances that have improved understanding of CLL.
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