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A Pilot Study of Comprehensive Genomic Profiling for Pediatric and Adolescent and Young Adult Solid Tumor Patients in Japan
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  • Shotaro Matsudera,
  • Yoshihito Kano,
  • Yasuko Aoyagi,
  • Kohki Tohyama,
  • Kei Ogino,
  • Kentaro Okamoto,
  • Takeshi Yamaguchi,
  • Shun Watanabe,
  • Masanobu Nakajima,
  • Shinji Morita,
  • Takatoshi Nakamura,
  • Kan Suzuki,
  • Takashi Tsuchioka,
  • Kazuyuki Kojima,
  • Satoshi Miyake,
  • Masatoshi Takagi,
  • Sadakatsu Ikeda
Shotaro Matsudera
Tokyo Medical and Dental University
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Yoshihito Kano
Tokyo Medical and Dental University
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Yasuko Aoyagi
Tokyo Medical and Dental University
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Kohki Tohyama
Tokyo Medical and Dental University
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Kei Ogino
Tokyo Medical and Dental University
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Kentaro Okamoto
Tokyo Medical and Dental University
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Takeshi Yamaguchi
Dokkyo Medical University School of Medicine Graduate School of Medicine
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Shun Watanabe
Dokkyo Medical University School of Medicine Graduate School of Medicine
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Masanobu Nakajima
Dokkyo Medical University School of Medicine Graduate School of Medicine
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Shinji Morita
Dokkyo Medical University School of Medicine Graduate School of Medicine
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Takatoshi Nakamura
Dokkyo Medical University School of Medicine Graduate School of Medicine
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Kan Suzuki
Dokkyo Medical University School of Medicine Graduate School of Medicine
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Takashi Tsuchioka
Dokkyo Medical University School of Medicine Graduate School of Medicine
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Kazuyuki Kojima
Dokkyo Medical University School of Medicine Graduate School of Medicine
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Satoshi Miyake
Tokyo Medical and Dental University
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Masatoshi Takagi
Tokyo Medical and Dental University
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Sadakatsu Ikeda
Tokyo Medical and Dental University
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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.