Fig. 3

Genomic profiling of MBs and associated syndromic neoplasms. A TMB dot-plot showing very low mutation burden in the FAP-associated tumors from patient F9, in contrast to post-radiation tumors from patient M6. The tumor corresponding to each TMB value represented by a colored dot is indicated below the dot, except for the MB values that are indicated with arrows. Pit, pituitary adenoma/prolactinoma; Desm, desmoid fibromatosis; Sarc, high-grade sarcoma. B Graphic representation of the indicated genomic mutations showing their variant allele fraction. The APC homozygous loss (CN = 0) in patient F9 desmoid fibromatosis is indicated by a square corresponding to the value 0. C CN analysis shows above and below the chromosomes the profiles for MBs and associated syndromic neoplasms, respectively. For M6, the high-grade sarcoma profile is below the pituitary adenoma profile. Selected genes with expression change or pathogenic mutation are indicated: bold, double-hit; purple, syndromic genes (TP53, APC); red, oncogenes; blue, tumor suppressor genes