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2010年至2012年贝勒查尔斯·A·萨蒙斯癌症中心的急性髓性白血病:分子遗传学评估的回顾性分析

Acute myelogenous leukemia at Baylor Charles A. Sammons Cancer Center, 2010 to 2012: retrospective analysis of molecular genetic evaluation.

作者信息

Jones Catherine, LeDay Temekka V, Miller Alan M

机构信息

Department of Oncology, Baylor Charles A. Sammons Cancer Center and Baylor University Medical Center at Dallas (Jones, Miller); the Department of Pathology, Baylor University Medical Center at Dallas (LeDay); and Pathologists Bio-Medical Laboratories, LLP, Dallas, Texas (LeDay).

出版信息

Proc (Bayl Univ Med Cent). 2014 Oct;27(4):299-304. doi: 10.1080/08998280.2014.11929140.

Abstract

Over the last several decades, advancements in the understanding of genetic and molecular origins of acute myeloid leukemia (AML) have brought about significant changes in how the disease is classified, diagnosed, and treated. The change from the traditional French-American-British classification system to that of the World Health Organization redefined how the disease is diagnosed not only morphologically but genetically. With genetic information proving to have prognostic value, the newer classification system, which incorporates results of cytogenetic and molecular analyses, allows better definition of disease and risk stratification, ultimately guiding treatment choices. As understanding and advancements in the molecular basis of AML continue to grow and influence patient management, the importance of an accurate and thorough initial patient evaluation is paramount. We performed a review of AML cases diagnosed at Baylor Charles A. Sammons Cancer Center from February 2010 to December 2012 to assess the thoroughness of initial diagnostic evaluations based on current guidelines, including up-to-date molecular analyses for mutations in NPM1, CEBPA, FLT3, and C-KIT. Results showed that patients newly diagnosed with AML undergo thorough diagnostic evaluation in keeping with current recommendations, and many had further genetic and molecular evaluations, which although considered optional or investigational, have prognostic significance. We identified potential areas of improvement for making this diagnostic evaluation more specific to the patient and the patient's disease. Currently, we are investigating having patients undergo reflex genetic testing if they meet certain criteria to better define their specific disease while avoiding unnecessary genetic evaluations that come at increased cost.

摘要

在过去几十年中,对急性髓系白血病(AML)的遗传和分子起源的认识取得了进展,这给该疾病的分类、诊断和治疗方式带来了重大变化。从传统的法美英分类系统到世界卫生组织的分类系统的转变,不仅在形态学上,而且在遗传学上重新定义了该疾病的诊断方式。由于遗传信息被证明具有预后价值,纳入细胞遗传学和分子分析结果的新分类系统能够更好地定义疾病并进行风险分层,最终指导治疗选择。随着对AML分子基础的理解和进展不断增加并影响患者管理,准确而全面的初始患者评估的重要性至关重要。我们对2010年2月至2012年12月在贝勒查尔斯·A·萨蒙斯癌症中心诊断的AML病例进行了回顾,以根据当前指南评估初始诊断评估的全面性,包括对NPM1、CEBPA、FLT³和C-KIT突变的最新分子分析。结果表明,新诊断为AML的患者按照当前建议接受了全面的诊断评估,许多患者还进行了进一步的遗传和分子评估,这些评估虽然被认为是可选的或研究性的,但具有预后意义。我们确定了使这种诊断评估更针对患者及其疾病的潜在改进领域。目前,我们正在研究让符合某些标准的患者接受反射性基因检测,以更好地定义其特定疾病,同时避免因费用增加而进行不必要的基因评估。

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