Eaton Aubrie, Wong Victor, Schiff Deborah, Anderson Eric, Ding Hilda, Capparelli Edmund V, Determan Deb, Kuo Dennis John
Department of Pharmacy (AE, DD), Rady Children's Hospital, San Diego, San Diego, CA.
Department of Pediatrics, Division of Hematology-Oncology (VW, DS, EA, HD, DJK), University of California San Diego, La Jolla, CA/Rady Children's Hospital, San Diego, San Diego, CA.
J Pediatr Pharmacol Ther. 2022;27(2):123-131. doi: 10.5863/1551-6776-27.2.123. Epub 2022 Feb 9.
To describe the frequency of use of tumor genomic profiling and functional drug sensitivity testing in pediatric patients with hematologic malignancies at our institution, and to determine how the results affected treatment selection.
A retrospective chart review was conducted to analyze the frequency of tumor genomic profiling and functional drug sensitivity screening in our institution in pediatric patients with hematologic malignancies and to ask if the results were used to direct treatment. A case series of patients for whom these testing recommendations resulted in therapeutic interventions is reported.
Thirty-three patients underwent tumor genomic profiling assays, functional testing, or both. Nineteen patients (58%) had genomic profiling assays performed alone, 3 (9%) had functional testing performed alone, and 11 (33%) had both tests performed. Twenty-one (64%) patients had potentially actionable mutations detected by the genomic profiling assay. Seven (21%) patients received at least 1 chemotherapeutic agent in accordance with the tumor genomic profiling or functional drug sensitivity testing results. Three (43%) of the 7 patients who were treated with testing directed therapy had a favorable treatment response (PR or CR) to treatments selected based upon results of genomic or functional testing.
This retrospective case series demonstrates that precision medicine techniques such as genomic profiling and drug sensitivity testing can positively inform treatment selection in pediatric patients with relapsed or refractory leukemia and lymphoma.
描述我院血液系统恶性肿瘤患儿肿瘤基因组分析及功能药敏试验的使用频率,并确定结果如何影响治疗选择。
进行回顾性病历审查,分析我院血液系统恶性肿瘤患儿肿瘤基因组分析及功能药敏筛查的频率,并询问结果是否用于指导治疗。报告了一系列因这些检测建议而导致治疗干预的患者病例。
33例患者接受了肿瘤基因组分析检测、功能检测或两者都做。19例患者(58%)仅进行了基因组分析检测,3例(9%)仅进行了功能检测,11例(33%)两项检测都做了。21例(64%)患者通过基因组分析检测发现了潜在的可操作突变。7例(21%)患者根据肿瘤基因组分析或功能药敏检测结果接受了至少1种化疗药物治疗。7例接受检测指导治疗的患者中有3例(43%)对根据基因组或功能检测结果选择的治疗有良好的治疗反应(PR或CR)。
这个回顾性病例系列表明,基因组分析和药敏检测等精准医学技术可以为复发或难治性白血病和淋巴瘤患儿的治疗选择提供积极信息。