Personalised medicine in oncology: Questions for the next 20 years

摘要

Molecular characterisation of tumour cells enables refinement of classifications for many cancers and can sometimes guide treatment. Malignant diseases are no longer classified only by tumour site and histology but are separated into various homogenous molecular subtypes, distinguished by a presumed key molecular alteration. For example, in lung cancer, tumours with mutations in ALK (reported in 4% of cases) or EGFR (noted in <10% of adenocarcinomas) have specific clinical presentations and targeted treatments. Moreover, the precise sequence of the mutation can predict outcome, and mutation frequencies vary greatly across ethnic groups. Rare cancers can also be fragmented into subtypes. Gastrointestinal stromal tumours comprise at least ten different subtypes, which need distinct treatments for advanced or adjuvant phases. Complexity grows with recognition that heterogeneity can arise within one tumour and patient. Complex branched evolution of mutations is taking place, from primary tumour cells to metastatic cells.