Circulating tumor DNA molecular profiling in rare cancer patients from the MASTER KEY Project.

• DOI: 10.1200/jco.2019.37.15_suppl.e14532
• Publication Date: 2019-05-27T16:00:33Z
• Authors: Hitomi Sumiyoshi ...; Kan Yonemori; Takuji Seo; Emi Noguchi; Keiko Wakakuwa; Ken Kato; Hitoshi Ichikawa; Takashi Kohno; Akihiro Hirakawa; Aya Kuchiba; Taro Shibata; Tamie Sukigara; Kenichi Nakamura; Hiroyuki Mano; Toshirou Nishida; Yasuhiro Fujiwara
• Keywords: 03 medical and health sciences; 0302 clinical medicine; 3. Good health

e14532 Background: In April 2017, MASTER KEY Project, composed of a prospective registry study part and multiple clinical trials part, was established to promote treatment development for rare cancers, which is lacking standard or investigational therapeutic options. Circulating tumor DNA (ctDNA) analysis by next-generation sequencing (NGS) has provided new insight into personalized medicine in more accessible, non-invasive manner; however, most reports are focused on common cancers. We report genetic alterations detected ctDNA NGS solid Methods: Prospectively consented patients (pts), also enrolled study, had testing at CLIA-certified lab (Guardant360) point mutations, indels, copy number amplifications, fusions, microsatellite instability. Alterations were assessed incidence according cancer type, functional impact, implications, comparison with tissue NGS. Main inclusion criteria: 1) age ≥16, 2) histological diagnosis (annual less than 6 cases per 100,000 population), unknown primary (CUP), subtypes 3) active metastatic / unresectable cancer, 4) written consent. Results: From Nov. 2018 Jan 2019, 50 pts Guardant360 testing. Diseases included: soft sarcoma (28), ovarian carc. (7), CUP (4), salivary gland (3), thyroid (2), GIST (1), adrenal cortical subtype GI tract malignant mesothelioma nephroblastoma NET NUT (1). All Japanese, male/female = 14/36, median 61, ECOG performance status 0/1/2/3 30/19/0/1. 76% (38/50) ≥1 alteration detected, 2 (range: 0-9), VAF(0.1-60.3%); 87%(33/38) those variant likely pathogenic; 61% (20/33) potential action. Mean TAT 10.3 days. 19 3 pts, but not Updated results 100 will be presented the conference. Conclusions: Most advanced disease detectable genomic Guardant360. Clinical trial information: UMIN000034394.