A Pilot Study of Comprehensive Genomic Profiling for Pediatric and
Adolescent and Young Adult Solid Tumor Patients in Japan
Abstract
Background: Comprehensive genomic profiling (CGP) was widely adopted in
Japan after its coverage by national healthcare insurance began in June
2019. We investigated the clinical utility of CGP in pediatric and
adolescent young adults (AYA) solid tumor patients. Procedure: Between
November 2017 and December 2019, 13 patients who progressed with or who
were likely to progress with standard therapies were recruited to the
PROFILE-F study to undergo CGP using either FoundationOne® CDx or
FoundationOne® Heme. Results: The median age was 28 years old. Tumor
types were as follows: neuroblastoma (n=1), Wilms’ tumor (n=1),
rhabdomyosarcoma (n=2), Ewing sarcoma (n=1), gastric cancer (n=1),
rectal cancer (n=1), osteosarcoma (n=1), neuroendocrine tumor (n=2),
salivary gland carcinoma (n=1), tracheal adenoid cystic carcinoma (n=1),
and thymic cancer (n=1). In 92% of cases, at least one genomic
alteration was identified, including CDKN2A (four cases), TP53 (three
cases), and MYC (two cases). Actionable aberrations were found in 10
cases (77%), and a clinical trial candidate was found in seven cases
(54%). However, no patients were able to receive biomarker-matched
therapy according to their genomic alterations. Conclusions: Further
efforts to increase basket trials and collection of clinical genomic
data to predict response are necessary to advance precision cancer
medicine in pediatric and AYA populations.