Fig. 4: Genomic alteration characteristics of MOFS subtypes.

A Tumor mutation burden across MOFS subtypes (n = 116, P = 0.37). Statistical test: Kruskal-Wallis test (two-sided). Data are presented as box plots, with the center line representing the median, the box indicating the interquartile range (IQR, from the 25th to the 75th percentile), and the whiskers extending to the most extreme data points within 1.5 times the IQR; points beyond this range are shown as individual outliers. B Kaplan-Meier survival curves for TP53, LRP2, and MCM10 mutations (n = 116). Statistic tests: log-rank test. C Mutational rates of SCN5A, USH2A, PLEC, and DNAH3 among MOFS subtypes (n = 116). Statistic tests: Fisher’s exact test. D Heatmap of CNV broad and focal burden across MOFS subtypes. E CNV analysis showing higher burden in MOFS2 (n = 116). Statistic tests: two-sided t test. Data are presented as box plots, with the center line representing the median, the box indicating the IQR (from the 25th to the 75th percentile), and the whiskers extending to the most extreme data points within 1.5 times the IQR; points beyond this range are shown as individual outliers. F STRAP expression levels significantly higher in MOFS2 (n = 116). Statistic tests: two-sided t test. Data are presented as box plots, with the center line representing the median, the box indicating the IQR (from the 25th to the 75th percentile), and the whiskers extending to the most extreme data points within 1.5 times the IQR; points beyond this range are shown as individual outliers. G Immunohistochemistry (IHC) results of STRAP expression in MOFS subtypes (n = 27). H ROC analysis showing STRAP as a predictor for MOFS2 subtype (AUC = 0.802). I Kaplan-Meier survival curves indicating high CNV or expression of STRAP associated with worse prognosis (n = 116). Statistic tests: log-rank test. J IHC results from tissue microarray (TMA) confirming high STRAP protein levels negatively associated with prognosis (n = 92). Statistic tests: log-rank test.