儿童液体瘤中基因组肿瘤分析技术的应用:临床系列。
Utilization of Genomic Tumor Profiling in Pediatric Liquid Tumors: A Clinical Series.
发表日期:2023 Apr 19
作者:
Ishna Sharma, Min Ji Son, Shoaleh Motamedi, Alice Hoeft, Christa Teller, Tyler Hamby, Anish Ray
来源:
MOLECULAR & CELLULAR PROTEOMICS
摘要:
血液学肿瘤大多数是使用毒副作用很大的化疗治疗的。尽管分子肿瘤分型可以扩展治疗选择,但我们对可治疗的靶驱动因素的了解来自成人液体瘤的研究,这不一定能够转化为对儿童液体肿瘤有效的治疗。关于何时进行分型和使用它指导治疗也没有共识。我们描述了一家医疗机构集成液体肿瘤分型的经验。回顾性评估了诊断为白血病或淋巴瘤并进行肿瘤分型的儿童患者。10名(83.3%)患者在肿瘤分型之前出现了复发性疾病。11名(91.7%)患者在分型中确定了可治疗的变异,并且有3名(25%)患者基于这些变异接受了靶向治疗。其中3名接受过靶向治疗的患者中,2名(66.7%)生存,1名(33.3%)死亡。对于我们部分复发和/或难治患者,基因分型是可行和有用的,可用于定制治疗以获得稳定或缓解状态。临床医生可能会犹豫偏离“标准治疗”,从而导致分型结果的低利用率。前瞻性研究应确定在儿童液体肿瘤中更常见的可操作基因变异并探讨在第一次复发之前进行主动的肿瘤分型的好处。
Hematologic tumors are mostly treated with chemotherapies that have poor toxicity profiles. While molecular tumor profiling can expand therapeutic options, our understanding of potential targetable drivers comes from studies of adult liquid tumors, which does not necessarily translate to efficacious treatment in pediatric liquid tumors. There is also no consensus on when profiling should be performed and its use in guiding therapies. We describe a single institution's experience in integrating profiling for liquid tumors. Pediatric patients diagnosed with leukemia or lymphoma and who underwent tumor profiling were retrospectively reviewed. Ten (83.3%) patients had relapsed disease prior to tumor profiling. Eleven (91.7%) patients had targetable alterations identified on profiling, and three (25%) received targeted therapy based on these variants. Of the three patients that received targeted therapy, two (66.7%) were living, and one (33.3%) decreased. For a portion of our relapsing and/or treatment-refractory patients, genetic profiling was feasible and useful in tailoring therapy to obtain stable or remission states. Practitioners may hesitate to deviate from the 'standard of therapy', resulting in the underutilization of profiling results. Prospective studies should identify actionable genetic variants found more frequently in pediatric liquid tumors and explore the benefits of proactive tumor profiling prior to the first relapse.