Genomic Analysis of Advanced Phyllodes Tumors Using Next-Generation Sequencing and Their Chemotherapy Response: A Retrospective Study Using the C-CAT Database

• DOI: 10.20944/preprints202411.0223.v1
• Publication Date: 2024-11-06T00:52:06Z
• Authors: Shuhei Suzuki; Yosuke Saito
• Keywords: Genomic Sequencing

Abstract: Background and Objectives: Phyllodes tumors are rare breast neoplasms with limited therapeutic options poorly understood molecular characteristics. This study aimed to analyze genomic alterations treatment outcomes in advanced phyllodes using Japan's national clinical testing registry (C-CAT database) identify potential targets predictive markers. Materials Methods: We conducted a retrospective analysis of 60 tumor cases from 80,329 patients registered the C-CAT database between June 2019 August 2024. Comprehensive profiling was performed multiple platforms including FoundationOne CDx, NCC OncoPanel, other approved tests. Treatment responses were evaluated according RECIST criteria, pathogenic variants assessed established databases ClinVar OncoKB. Results: The cohort's median age 54 years (range: 13-79), TERT promoter (70%), MED12 (52%), TP53 (50%) mutations being most frequent alterations. Forty received first-line chemotherapy, predominantly an-thracycline-based regimens (n=29). Although not reaching statistical significance, CDKN2A showed trends toward resistance (OR>3.0). One patient high mutational burden (37/Mb) responded pembrolizumab. Potential germline identified two (3.3%), involving MSH6 Notably, no CDKN2B demonstrated response (p=0.09). Conclusions: Our findings suggest distinct patterns compared soft tissue sarcomas, implications for selection. identification specific genetic associated may guide decision-making, while presence actionable select indicates opportunities targeted therapy approaches.