A further 20 sarcomas were reclassified from one included type of sarcoma to another, as indicated by lines. Thirty-one cases (gray boxes) were excluded from final analysis, including 5 tumors which were not sarcomas 8 which were considered to be tumors of inappropriate type (including the two desmoid tumors, which were excluded from final analysis due to insufficient case numbers) 17 tumors for which a definite classification could not be made based on the available material for review and one DDLPS which was infiltrated by chronic lymphocytic lymphoma. (A) Schematic of classification following expert pathology review of 237 submitted sarcoma samples, illustrating the challenge of accurate diagnosis in sarcoma pathology, and the need for central pathology review in large-scale multi-institutional studies such as TCGA. From top to bottom panels indicate: frequency of mutations per Mb mutational signatures, indicating type of substitution patient sex sarcoma grade number of whole genome doublings number of unbalanced genomic segments tumor site sarcoma type cluster from iCluster analysis significantly mutated genes, defined by false discovery rate (FDR) of. (A) Integrated plot of clinical and molecular features for all samples, ordered by sarcoma type. Sarcomas fall into two broad genetic groups: those with simple karyotypes harboring specific genetic alterations (translocations, activating mutations) and those with complex karyotypes (.
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