CBL and Miyoshi myopathy: As shown in Table 2; Fig. 4, multivariate and Kaplan–Meier analyses revealed that the anatomic sites of MM in the esophagus and small bowel (PFS: hazard ratio [HR] = 4.78, 95% confidence interval [CI] = 2.42–9.45, P < 0.001; OS: HR = 5.26, 95% CI = 2.51–11.03, P < 0.001) and CBL mutations (PFS: HR = 3.54, 95% CI = 1.46–8.56, P = 0.005; OS: HR = 5.57, 95% CI = 2.04–15.19, P = 0.001) were independently risk factors for survival.