Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.

TitleMolecular profiling identifies targeted therapy opportunities in pediatric solid cancer.
Publication TypeJournal Article
Year of Publication2022
AuthorsChurch AJ, Corson LB, Kao P-C, Imamovic-Tuco A, Reidy D, Doan D, Kang W, Pinto N, Maese L, Laetsch TW, Kim AR, Colace SI, Macy ME, Applebaum MA, Bagatell R, Sabnis AJ, Weiser DA, Glade-Bender JL, Homans AC, Hipps J, Harris H, Manning D, Al-Ibraheemi A, Li Y, Gupta H, Cherniack AD, Lo Y-C, Strand GR, Lee LA, R Pinches S, De La Vega LLazo, Harden MV, Lennon NJ, Choi S, Comeau H, Harris MH, Forrest SJ, Clinton CM, Crompton BD, Kamihara J, Macconaill LE, Volchenboum SL, Lindeman NI, Van Allen E, DuBois SG, London WB, Janeway KA
JournalNat Med
Date Published2022 Aug
KeywordsAdolescent, Adult, Biomarkers, Tumor, Child, Child, Preschool, Genomics, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Molecular Targeted Therapy, Neoplasms, Prospective Studies, Young Adult

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.

Alternate JournalNat Med
PubMed ID35739269
PubMed Central ID8474368
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