Table 1.
Clinical Information, Genetic alterations and Follow-up.
| Case | Age Sex | Site | Immunohistochemistry | Fusion/Rearrangement | TSC2 mutation | TP53 mutation | Follow up | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SMA | Desmin | HMB45 | TFE3 | Duration | LR | DR | Status | ||||||
| 1 | 36/F | thigh | − | + | + | PSF-TFE3 | na | na | |||||
| 2α β | 47/F | pelvis | F+ | F+ | + | PSF-TFE3 | 51 | + | NED | ||||
| 3 | 33/F | rectum | − | − | + | PSF-TFE3 | 26 | NED | |||||
| 4 α β | 58/F | calf | F+ | DVL2-TFE3 | 16 | + | AWD | ||||||
| 5 | 69/M | pancreas | F+ | − | − | + | TFE3 | na | na | ||||
| 6 α β | 40/F | uterus | + | + | TFE3 | 12 | NED | ||||||
| 7 | 61/F | buttock | + | − | + | TFE3 | na | na | |||||
| 8 | 56/M | lung | − | − | − | + | TFE3 | na | na | ||||
| 9 | 62 / F | Buttock | + | − | − | + | TFE3 | na | na | ||||
| 10 α β # | 58/F | uterus (i-abd R) | + | F+ | RAD51B-RRAGB/OPHN1 | p.E393* | T150_P151 del | 18 | + | DOD | |||
| 11 | 44/F | uterus (i-abd R) | + | + | + | − | RAD51B-RRAGB/OPHN1 | 38 | + | + | NED | ||
| 12 | 66/F | uterus (lung met) | + | + | RAD51B | 16 | + | NED | |||||
| 13 α β | 65/F | uterus (i-abd R) | + | + | + | HTR4-ST3GAL1 | 17 | + | NED | ||||
| 14 α | 44/M | urinary bladder | + | − | + | − | RASSF1-PDZRN3 | 13 | NED | ||||
| 15 α β # | 56/M | small bowel | + | + | F+ | p.Y648* | p.Y200C | 60 | + | NED | |||
| 16^ | 37/F | Liver | + | − | + | p.W358X | 44 | NED | |||||
| 17 | 69/M | Kidney | F+ | F+ | + | 108 | + | + | DOD | ||||
| 18 | 44/M | Kidney | + | 91 | + | + | DOD | ||||||
| 19 α | 75/M | Liver | + | + | 2 | NED | |||||||
| 20 | 43/F | Abdomen | − | F+ | na | na | |||||||
| 21 | 65/M | Back | − | − | + | 13 | NED | ||||||
| 22 β | 57/M | Kidney | F+ | p.AKIVSDRNL 1700del | p.G244R | 94 | + | + | DOD | ||||
| 23 | 59/M | Mediastinum | + | + | + | F+ | na | na | |||||
| 24 | 61/M | Paraspinal | + | F+ | na | na | |||||||
| 25 β # | 54/F | uterus (i-abd R) | − | − | + | p.Q1605X | p.H380fs | 20 | + | DOD | |||
| 26 β | 79/M | Liver | + | F+ | F+ | + | D1598fs*23 | p.R283P | 7 | DOO | |||
| 27 α | 49/F | kidney | + | + | F+ | 21 | NED | ||||||
| 28 α | 36/M | stomach | + | − | + | 24 | NED | ||||||
| 29 | 57/M | RP | + | − | F+ | 25 | + | + | AWD | ||||
| 30 | 42/F | uterus (i-abd R) | − | 19 | + | NED | |||||||
| 31 | 68/F | uterus (i-abd R) | F+ | 28 | + | NED | |||||||
| 32 | 71/F | uterus | + | F+ | 9 | NED | |||||||
| 33 α # | 78/F | kidney (lung met) | − | − | F+ | p.Q1010* | 140 | DOD | |||||
| 34 | 48/F | uterus | + | − | F+ | 36 | NED | ||||||
| 35 β | 58/F | peri-rectal | + | + | − | 3 | + | NED | |||||
| 36 | 43/M | brain | + | − | F+ | − | 17 | + | DOD | ||||
| 37 | 59/F | uterus | + | + | F+ | 5 | NED | ||||||
| 38 β | 24/F | kidney (lung met) | − | − | + | F+ | p.D1696fs | 18 | + | NED | |||
^
Previously reported by Dickson et al. (2013);
α
Cases analyzed by RNA sequencing
β
Cases analyzed by targeted exome sequencing (IMPACT);
#
Cases with mutations confirmed by Sanger sequencing
RP, retroperitoneal; i-abd R, intra-abdominal recurrence; met, metastasis.