小柯机器人

美国哈佛医学院Alanna J. Church等研究人员利用分子分析确定儿科实体癌的靶向治疗机会。相关论文于2022年6月23日在线发表在《自然—医学》杂志上。

为了评估用靶向测序测试进行的肿瘤分子分析（MTP）的临床影响，12家机构的颅外实体瘤儿科患者被纳入了一项前瞻性的观察队列研究。在345名患者的分析人群中，诊断时的中位年龄为12岁（范围0-27.5）；298名患者（86%）有1个或更多的改变，可能对护理产生影响。具有诊断、预后或治疗意义的基因组改变分别存在于61、16和65%的患者中。结果返回后，对护理的影响包括17名患者的诊断分类得到澄清，240名患者的MTP结果可用于选择与确定的改变相匹配的分子靶向治疗（MTT）。

在接受MTT的29名患者中，24%有客观反应或经历了持久的临床获益；这些患者中除1人外都接受了与基因融合相匹配的靶向治疗。在209名患者中发现的诊断性变异中，77%是基因融合。包括融合检测在内的靶向小组测试的MTP对年轻的实体瘤患者有很大的临床影响。

附：英文原文

Title: Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer

Author: Church, Alanna J., Corson, Laura B., Kao, Pei-Chi, Imamovic-Tuco, Alma, Reidy, Deirdre, Doan, Duong, Kang, Wenjun, Pinto, Navin, Maese, Luke, Laetsch, Theodore W., Kim, AeRang, Colace, Susan I., Macy, Margaret E., Applebaum, Mark A., Bagatell, Rochelle, Sabnis, Amit J., Weiser, Daniel A., Glade-Bender, Julia L., Homans, Alan C., Hipps, John, Harris, Haley, Manning, Danielle, Al-Ibraheemi, Alyaa, Li, Yvonne, Gupta, Hersh, Cherniack, Andrew D., Lo, Ying-Chun, Strand, Gianna R., Lee, Lobin A., Pinches, R. Seth, Lazo De La Vega, Lorena, Harden, Maegan V., Lennon, Niall J., Choi, Seong, Comeau, Hannah, Harris, Marian H., Forrest, Suzanne J., Clinton, Catherine M., Crompton, Brian D., Kamihara, Junne, MacConaill, Laura E., Volchenboum, Samuel L., Lindeman, Neal I., Van Allen, Eliezer, DuBois, Steven G., London, Wendy B., Janeway, Katherine A.

Issue&Volume: 2022-06-23

Abstract: To evaluate the clinical impact of molecular tumor profiling (MTP) with targeted sequencing panel tests, pediatric patients with extracranial solid tumors were enrolled in a prospective observational cohort study at 12 institutions. In the 345-patient analytical population, median age at diagnosis was 12 years (range 0–27.5); 298 patients (86%) had 1 or more alterations with potential for impact on care. Genomic alterations with diagnostic, prognostic or therapeutic significance were present in 61, 16 and 65% of patients, respectively. After return of the results, impact on care included 17 patients with a clarified diagnostic classification and 240 patients with an MTP result that could be used to select molecularly targeted therapy matched to identified alterations (MTT). Of the 29 patients who received MTT, 24% had an objective response or experienced durable clinical benefit; all but 1 of these patients received targeted therapy matched to a gene fusion. Of the diagnostic variants identified in 209 patients, 77% were gene fusions. MTP with targeted panel tests that includes fusion detection has a substantial clinical impact for young patients with solid tumors.

DOI: 10.1038/s41591-022-01856-6

Source: https://www.nature.com/articles/s41591-022-01856-6

Nature Medicine：《自然—医学》，创刊于1995年。隶属于施普林格·自然出版集团，最新IF：87.241
官方网址：https://www.nature.com/nm/
投稿链接：https://mts-nmed.nature.com/cgi-bin/main.plex