Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer

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

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1581-1589
Number of pages9
JournalNature Medicine
Issue number8
StatePublished - Aug 2022

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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