Table 3 Cases diagnosed as myofibromas.
Case | Sex/age (years) | Site | Myoid appearance | Myoid nodules | Pseudochondroid appearance | Branching vessels | Perivascular growth | OGC | Mitoses per 10 HPF | USP6 fusion | PDGFRB mutations in exons 11, 12, 14, 18, and 21; estimated allele frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|
#1 | F/56 | Finger | Yes | No | Yes | No | No | No | 0 | Absent | Absent |
#2 | M/49 | Finger | Yes | No | Yes | No | Yes | Yes | 4 | Absent | Absent |
#3 | M/41 | Finger | Yes | Yes | Yes | Yes | Yes | Yes | 4 | Absent | Absent |
#4 | M/10 | Hand | Yes | No | No | Yes | Yes | Yes | 6 | Absent | Absent |
#5 | M/41 | Toe | Yes | No | No | Yes | Yes | No | 0 | ND | Ex12, c.1786_1787delCCinsTT, p.(P596L); 10–20% Ex18, c.2548 G > A, p.(D850N); 50% Ex21, c.2849 C > T, p.(P950L); 10–15% |
#6 | M/49 | Finger | Yes | Yes | Yes | Yes | Yes | Yes | 2 | ND | Ex18, c.2548 G > A, p.(D850N); 10% Ex18, c.2564 C > T, p.(S855L); 20% Ex21, c.2845 C > T, p.(P949S); 10–15% |
#7 | M/50 | Finger | Yes | Yes | Yes | Yes | Yes | Yes | 0 | ND | Ex14, c.1996A > C, p.(N666H); 45% Ex18, c.2545 C > T, p.(R849*); 80–90% Ex21, c.2857 C > T, p.(Q953*); 40–45% |
