Abstract：
UNASSIGNED: Defining the chromosomal and molecular changes associated with myeloid neoplasms (MNs) optimizes clinical care through improved diagnosis, prognosis, treatment planning, and patient monitoring. This review will concisely describe the techniques used to profile MNs clinically today, with descriptions of challenges and emerging approaches that may soon become standard-of-care.
UNASSIGNED: In this review, the authors discuss molecular assessment of MNs using non-sequencing techniques, including conventional cytogenetic analysis, fluorescence in situ hybridization, chromosomal genomic microarray testing; as well as DNA- or RNA-based next-generation sequencing (NGS) assays; and sequential monitoring via digital PCR or measurable residual disease assays. The authors explain why distinguishing somatic from germline alleles is critical for optimal management. Finally, they introduce emerging technologies, such as long-read, whole exome/genome, and single-cell sequencing, which are reserved for research purposes currently but will become clinical tests soon.
UNASSIGNED: The authors describe challenges to the adoption of comprehensive genomic tests for those in resource-constrained environments and for inclusion into clinical trials. In the future, all aspects of patient care will likely be influenced by the adaptation of artificial intelligence and mathematical modeling, fueled by rapid advances in telecommunications.
UNASSIGNED: In this review, the authors discuss molecular assessment of MNs using non-sequencing techniques, including conventional cytogenetic analysis, fluorescence in situ hybridization, chromosomal genomic microarray testing; as well as DNA- or RNA-based next-generation sequencing (NGS) assays; and sequential monitoring via digital PCR or measurable residual disease assays. The authors explain why distinguishing somatic from germline alleles is critical for optimal management. Finally, they introduce emerging technologies, such as long-read, whole exome/genome, and single-cell sequencing, which are reserved for research purposes currently but will become clinical tests soon.
UNASSIGNED: The authors describe challenges to the adoption of comprehensive genomic tests for those in resource-constrained environments and for inclusion into clinical trials. In the future, all aspects of patient care will likely be influenced by the adaptation of artificial intelligence and mathematical modeling, fueled by rapid advances in telecommunications.
摘要：
■定义与骨髓性肿瘤（MNs）相关的染色体和分子变化可通过改善诊断来优化临床护理，预后,治疗计划,和病人监测。这篇综述将简要描述当今临床上用于分析MNs的技术，描述了可能很快成为护理标准的挑战和新兴方法。
■在这篇评论中，作者讨论了使用非测序技术对MNs进行分子评估，包括常规的细胞遗传学分析，荧光原位杂交,染色体基因组微阵列测试；以及基于DNA或RNA的下一代测序（NGS）测定；以及通过数字PCR或可测量的残留疾病测定进行的顺序监测。作者解释了为什么区分体细胞和种系等位基因对于优化管理至关重要。最后,他们引进新兴技术，比如长读，整个外显子组/基因组，和单细胞测序，目前保留用于研究目的，但很快将成为临床试验。
■作者描述了在资源有限的环境中采用全面的基因组测试以及纳入临床试验的挑战。在未来,患者护理的所有方面都可能受到人工智能和数学建模的影响，在电信快速发展的推动下。
■在这篇评论中，作者讨论了使用非测序技术对MNs进行分子评估，包括常规的细胞遗传学分析，荧光原位杂交,染色体基因组微阵列测试；以及基于DNA或RNA的下一代测序（NGS）测定；以及通过数字PCR或可测量的残留疾病测定进行的顺序监测。作者解释了为什么区分体细胞和种系等位基因对于优化管理至关重要。最后,他们引进新兴技术，比如长读，整个外显子组/基因组，和单细胞测序，目前保留用于研究目的，但很快将成为临床试验。
■作者描述了在资源有限的环境中采用全面的基因组测试以及纳入临床试验的挑战。在未来,患者护理的所有方面都可能受到人工智能和数学建模的影响，在电信快速发展的推动下。
