Cancer genome profiling in sarcomas: current status and future perspectives in Japan

Sarcomas are rare, molecularly diverse malignancies that challenge accurate diagnosis and effective therapy. Japan has implemented nationwide comprehensive cancer genomic profiling (CGP) since 2019, creating an integrated framework that enables precision oncology in routine care.

This review synthesizes the status of cancer genomic medicine in Japan, delineates the genomic landscape of sarcomas, and summarizes clinically actionable alterations. We describe the diagnostic value of CGP - particularly the contribution of RNA sequencing for fusion detection - and outline national infrastructures (expert panels, registries) and platform trials that operationalize genome-matched therapy access. We also examine emerging directions, including liquid biopsy, multi-omics integration, whole-genome approaches, and artificial intelligence, and discuss practical barriers (tissue quality, turnaround time, drug access) with potential solutions.

Japan's coordinated model - CGP embedded in care, centralized data, and adaptive trial platforms - offers a blueprint for rare cancer precision medicine. Over the next five years, earlier CGP use, broader RNA-enabled diagnostics, and trial-mediated access to targeted agents should expand; coupling liquid biopsy with multi-omics and AI will refine classification and treatment selection. Addressing access and implementation gaps will be critical to translate genomic insights into better outcomes.