Importance of molecular genetics in sarcomas

摘要

Sarcomas represent a paradigm for rare cancers. Rare cancers have historically presented significant challenges, because traditionally clinical trials require significant numbers of patients to achieve adequate statistical power. In part, this was due toe the lack of efficacy of the treatments used for sarcomas, and in part to the sheer heterogeneity of subtypes within this uncommon group of cancers. It is arguable that recent developments in molecular genetics are transforming the outlook for patients with rare cancers. Since the sequence of the human genome was published in 2001, the landscape of cancer genetics has changed forever. A combination of the accelerating progress in genomic technologies, together with the raft of molecularly targeted therapeutic agents, is fundamentally altering the face of clinical trials in sarcomas. These developments in molecular genetics of sarcomas, and their current and future impact on clinical care will be reviewed. These changes throw out a new challenge to clinicians treating rare diseases, and those responsible for health care systems to avoid being rate-limiting in translating science into clinical benefit.