TABLE 1.
The identified mutations and MYCN status in tumor tissues and single CTCs from the recent five patients with neuroblastoma
| Case | Sample | MYCN status | Mutated gene (allele frequency) | Amino acid change |
|---|---|---|---|---|
| 6 | Tumor tissue (primary site) | Amp (×123) | APC (2.9%) | p.S1495Mfs*19 |
| EZH2 (1.8%) | p.N640Mfs*35 | |||
| RET (90.3%) | Mutation in intron | |||
| TP53 (1.3%) | p.H193= | |||
| CTC1 | Amp (×279) | ‐ | ‐ | |
| CTC2 | Amp (×163) | STK11 (10.2%) | Mutation in intron | |
| CTC3 | Amp (× >1000) | ‐ | ‐ | |
| CTC4 | Amp (×39) | APC (77.9%) | p.S1436= | |
| CTC5 | Amp (× >1000) | ‐ | ‐ | |
| CTC6 | Amp (×111) | PTPN11 (14.8%) | p.R498W | |
| CTC7 | Amp (×83) | ERBB2 (30.6%) | p.H858= | |
| CTC8 | Amp (×30) | PIK3CA (14.2%) | p.L113F | |
| 7 | Tumor tissue (primary site) | Amp (×220) | ALK (1.8%) | p.F1174L |
| CTC1 | Amp (×47) | ALK (100%) | p.F1174L | |
| CTC2 | Amp (×95) | ‐ | ‐ | |
| 8 | Tumor tissue (primary site) | Amp (×45) | ‐(RB1 p.E365 = (0.03%)) (SMAD4 p.Q169 = (0.05%)) | ‐ |
| CTC1 | Amp (× >1000) | RB1 (61.9%) | p.E365= | |
| CTC2 | Not amp (×2) | SMAD4 (35.1%) | p.Q169= | |
| 9 | Tumor tissue (primary site) | Not amp (×1) | ‐ | ‐ |
| CTC1 | Not amp (×0.2) | ‐ | ‐ | |
| 10 | Tumor tissue (primary site) | Amp (×46) | ‐ | ‐ |
| CTC1 | Amp (×36) | ‐ | ‐ |
Abbreviations: Amp, amplification (MYCN/NAGK ratio >2.5); fs*, insertion‐frameshift.