Table I.
Summary of clinicopathological features of 47 cases that were previously reported as CCSLTGT, GNET or CCS-GI lacking melanocytic differentiation.
| Authors (publication) | CCSLTGT or GNET case | Age, years | Sex | Location | S100 | SOX-10 | HMB-45/Melan-A | EM findings | Genetic findings | Follow-up | Additional findings | (Refs.) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Zambrano et al (2003) | Yes | 15 | F | Jejunum | + | ND | − | No melanosomes | t(12;22) (q13;q12) | DOD at 16 months | OLGC | (2) |
| Yes | 21 | F | Jejunum | + | ND | − | ND | ND | DOD at 12 months | OLGC/LN met. | ||
| Yes | 35 | F | Ileum | + | ND | − | No melanosomes | ND | Liver met. at 12 months | OLGC | ||
| Yes | 37 | F | Ileum | + | ND | − | ND | ND | Lost | OLGC | ||
| Yes | 13 | M | Stomach | + | ND | − | No melanosomes | ND | Recurrence at 8 months | OLGC | ||
| Yes | 32 | M | Ileum | + | ND | − | ND | ND | NA | OLGC/LN met. | ||
| Huang et al (2006) | Yes | 40 | M | Stomach | + | ND | − | ND | ND | NA | OLGC | (4) |
| Antonescu et al (2006) | No | 81 | F | Colon | + | ND | − | No melanosomes | EWSR1-CREB1 | Intra-abdominal and Liver met. at 60 months | LN met. | (14) |
| No | 42 | F | Ileum | + | ND | − | ND | EWSR1-CREB1 | NA | OLGC | ||
| No | 42 | F | Ileum | + | ND | − | No melanosomes | EWSR1-CREB1 | NA | Mesenteric met. | ||
| Friedrichs et al (2005) | Yes | 41 | M | Jejunum | + | ND | − | ND | EWSR1-ATF1 | Liver met. at 6 months | OLGC | (3) |
| Venkataraman et al (2005) | No | 21 | F | Ileum | + | ND | − | No melanosomes | EWSR1 rearrangement | NA | (15) | |
| Granville et al (2006) | No | 16 | M | Ileum | + | ND | − | Rare pre-melanosomes | EWSR1-ATF1 | DOD at 11 months | OLGC | (16) |
| Comin et al (2007) | No | 31 | F | Ileum | + | ND | − | ND | EWSR1 rearrangement | NA | LN met. | (17) |
| Joo et al (2009) | No | 60 | M | Ileum | + | ND | − | ND | EWSR1 rearrangement | NA | OLGC/LN and Liver met. | (18) |
| No | 46 | M | Jejunum | + | ND | − | ND | No EWSR1 rearrangement | NA | LN met./Ig-G4-scle.dis | ||
| Lagmay et al (2009) | No | 10 | F | Stomach | + | ND | − | ND | EWSR1-ATF1 | NED at 4 months | LN and liver met. | (19) |
| Terazawa et al (2009) | No | 20+ | F | Ileum | + | ND | ND | ND | EWSR1-ATF1 | AWD at 24 months | OLGC | (20) |
| Shenjere et al (2012) | No | 53 | F | Ileum | + | ND | − | No melanosomes | EWSR1-ATF1 | NA | OLGC/LN met. | (21) |
| No | 26 | F | Small and large bowel | + | ND | − | ND | EWSR1-CREB1 | NA | Mesenteric met. | ||
| No | 66 | M | Small bowel | + | ND | − | ND | EWSR1-CREB1 | NA | LN met. | ||
| Stockman et al (2012) | Yes | 30 | F | Jejunum | + | + | − | Dense-core granules | EWSR1-ATF | AWD at 21 months | (6) | |
| Yes | 35 | M | Jejunum | + | + | − | Dense-core granules | EWSR1-ATF1 | DOD at 18 months | OLGC | ||
| Yes | 33 | M | Ileum | + | + | − | Dense-core granules | EWSR1-CREB1 | AWD at 1.5 months | OLGC | ||
| Yes | 50 | F | Stomach | + | + | − | Dense-core granules | EWSR1-ATF1 | AWD at 20 months | |||
| Yes | 20 | F | Small bowel | + | + | − | Dense-core granules | EWSR1 rearrangement | NED at 20 months | |||
| Yes | 52 | M | Ileum | + | + | − | ND | EWSR1 and FUS-negative | DOD at 22 months | OLGC | ||
| Yes | 46 | M | Stomach | + | + | − | ND | EWSR1 rearrangement | NA | OLGC | ||
| Yes | 34 | F | Stomach | + | + | − | ND | EWSR1-ATF1 | DOD at 19 months | OLGC | ||
| Yes | 37 | F | Ileum | + | + | ND | ND | ND | NA | OLGC | ||
| Yes | 77 | F | Colon | + | + | − | ND | EWSR1-ATF1 | DOD at 106 months | OLGC | ||
| Yes | 31 | M | Colon | + | + | − | ND | ND | DOD at 3 months | OLGC | ||
| Yes | 17 | M | Small bowel | + | + | − | ND | EWSR1 rearrangement | NA | |||
| Yes | 60 | M | Ileum | + | + | − | ND | EWSR1-ATF1 | AWD at 36 months | |||
| Yes | 60 | F | Jejunum | + | + | − | ND | EWSR1-CREB1 | NED at 41 months | |||
| Yes | 56 | M | Stomach | + | + | − | ND | EWSR1-CREB1 | NA | |||
| Yes | 28 | F | Small bowel | + | + | − | ND | EWSR1 rearrangement | DOD at 23 months | |||
| Lasithiotakis et al (2013) | No | 49 | F | Jejunum | + | ND | − | ND | EWSR1 rearrangement | NED at 20 months | (22) | |
| Kong et al (2014) | Yes | 17 | M | Stomach | + | ND | − | ND | EWSR1 rearrangement | NED at 10 months | OLGC | (7) |
| Thway et al (2014) | Yes | 33 | M | Small bowel | + | ND | − | ND | EWSR1-CREB1 | DOD at 7 months | LN met./hepatoblastoma history | (5) |
| Zhao et al (2014) | Yes | 33 | F | Ileum | + | ND | − | ND | EWSR1 rearrangement | NED at 12 months | (8) | |
| Insabato et al (2015) | Yes | 29 | M | Stomach | + | ND | − | No melanosomes | EWSR1 rearrangement | AWD at 74 months | Ewing's Sarcoma history | (11) |
| Boland et al (2016) | Yes | 46 | F | Stomach | + | + | − | ND | EWSR1-ATF1 | NA | Oncocytic variant | (12) |
| Alyousef et al (2017) | Yes | 18 | M | Jejunum | + | ND | − | ND | EWSR1 rearrangement | DOD at 48 months | OLGC | (13) |
| Li et al (2005) | No | 40 | M | Stomach | + | ND | − | No melanosomes | ND | NED at 9 months | OLGC/LN met. | (23) |
| Huang et al (2014) | No | 45 | F | Colon | + | ND | − | ND | EWSR1 rearrangement | Liver met. at 16 months | OLGC/LN met. | (24) |
| Kansal et al (2017) | Yes | 55 | F | Jejunum | + | ND | − | ND | ND | NA | Neurofilament(+) | (9) |
20+ indicates early twenties. IgG4-scle. Dis, immunoglobulin 4-related sclerosing disease; EM, electron microscopy; AWD, alive with disease; DOD, succumbed to disease; NED, no evidence of disease; ND, not done; NA, not available; met., metastasis; LN, lymph node; OLGC, osteoclast-like giant cell; EWSR1, Ewing sarcoma breakpoint region 1; CREB1, cyclic responsive element binding protein 1; ATF1, activating transcription factor 1; M, male; F, female.