Table 1.
Clinicopathologic and Molecular features and Followup of MYOD1-mutant Rhabdomyosarcoma
| RMS# | Age | Location | Morphology | MYOD1 Ex1 p.L122R | PIK3CA | Therapy | LR | DR | FU duration (months) | FU status |
|---|---|---|---|---|---|---|---|---|---|---|
| 1# | 2/F | buttock | Sp, Pri | Heterozygous | WT | Chemo + RT | DR | 12 | DOD | |
| 2 | 4/F | Calf | Scl, Pri | Heterozygous | WT | na | na | |||
| 3* | 7/F | I-abd | Scl | Homozygous | WT | Chemo + RT | LR | DR | 28 | DOD |
| 4*# | 8/M | thigh | Scl, Pri (pre-Rx); Sp (post-Rx) | Homozygous | WT | Chemo | 44 | NED | ||
| 5# | 9/F | H&N | Sp | Homozygous | WT | LR | 12 | DOD | ||
| 6# | 9/M | H&N | Sp | Homozygous | WT | LR | 42 | DOD | ||
| 7 | 9/F | H&N | Scl | Homozygous | E545A | na | na | |||
| 8# | 10/F | paraspinal | Sp | Homozygous | WT | Chemo + RT | LR | DR | 35 | DOD |
| 9¥# | 10/F | buttock | Scl, Pri | Homozygous | G1049R | DR | 6 | DOD | ||
| 10 | 10/F | H&N | Scl | Heterozygous | WT | Chemo + RT | LR | 48 | NED | |
| 11# | 11/F | H&N | Scl | Homozygous | Q546R | na | na | |||
| 12# | 13/F | chest wall | Scl (pre-Rx); Sp (post-Rx) | Homozygous | E545K | Chemo + RT | LR | DR | 21 | DOD |
| 13# | 15/F | H&N | Scl | Homozygous | E542K | Chemo | LR | DR | 26 | DOD |
| 14# | 17/M | paravertebral | Sp, Scl | Homozygous | WT | DR | 24 | DOD | ||
| 15* | 17/F | thorax | Sp | Homozygous | WT | Chemo + RT | LR | DR | 68 | DOD |
| 16* | 21/M | pelvis | Sp | Homozygous | WT | Chemo | LR | DR | 42 | DOD |
| 17* | 21/F | H&N | Sp, Scl, Pri | Homozygous | M1043V | Chemo + RT | 30 | NED | ||
| 18 | 21/F | H&N | Sp, Scl | Heterozygous | - | na | na | |||
| 19* | 26/M | lower leg | Sp, Scl | Homozygous | H1047R | Chemo | 4 | NED | ||
| 20* | 31/F | H&N | Scl | Homozygous | K111E | Chemo + RT | LR | 12 | AWD | |
| 21# | 32/M | H&N | Sp, Scl | Heterozygous | WT | Chemo + RT | LR | 65 | DOD | |
| 22 | 33/M | Thigh | Sp | Homozygous | WT | na | na | |||
| 23# | 34/F | H&N | Sp, Scl | Heterozygous | E542V | Chemo | DR | 42 | DOD | |
| 24* | 36/M | forearm | Sp | Homozygous | K111 del | Chemo + RT | LR | DR | 16 | DOD |
| 25 | 38/F | Leg | Sp | Homozygous | WT | na | na | |||
| 26 | 39/M | lower leg | Sp, Scl | Heterozygous | WT | Chemo | 60 | NED | ||
| 27* | 44/F | paraspinal | Sp | Homozygous | WT | Chemo + RT | 13 | NED | ||
| 28* | 45/M | Liver | Pri, Sp | Heterozygous | WT | na | na | |||
| 29 | 77/M | lower leg | Sp, Scl | Homozygous | WT | Chemo | DR | 32 | DOD | |
| 30 | 94/M | lower leg | Scl | Homozygous | WT | na | na |
*
cases tested by MSK-IMPACT;
¥
cases tested by RNAseq;
#
cases previously included in references 11–15; M, male; F, female; FU, follow-up; H&N, head and neck; intra-abd, intra-abdominal; Sp, spindle; Scl, sclerosing; Pri, primitive; LR, local recurrence; DR, distant recurrence; NED, no evidence of disease; AWD, alive with disease; DOD, dead of disease; LR, local recurrence; RT, external beam radiation; na, not available.