Roberto Tirabosco

TL;DR: The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

TL;DR: IDH1 and IDH2 mutations represent the first common genetic abnormalities to be identified in conventional central and periosteal cartilaginous tumours and speculate that a mosaic pattern of IDH‐mutation‐bearing cells explains the reports of diverse tumours (gliomas, AML, multiple cartILaginous neoplasms, haemangiomas) occurring in the same patient.

TL;DR: Not only are PAX-FKHR fusion transcripts specific for ARMS, but expression of PAX3-FK hr and PAX7-FK HR identifies a very high-risk subgroup and a favorable outcome subgroup, respectively, among patients presenting with metastatic ARMS.

TL;DR: A remarkable picture of tumor type specificity for histone H 3.3.3 driver alterations emerges, indicating that hist one H3.

TL;DR: It is shown that chordomas express many genes known to be involved in cartilage development, but they also uniquely express genes distinguishing them from chondroid neoplasms, and it is demonstrated that brachyury is a specific marker for the notochord andNotochord‐derived tumours.