Table 1.
Case | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 |
---|---|---|---|---|---|---|---|
Age | 14y 0m | 4y 2m | 2y | 13y | 6y | 2y | 11y 2m |
Gender | M | F | M | F | F | M | F |
Primary site | back | leg | thigh | calf | ear | knee | thigh |
Thickness(mm) | 1.3 | 7.8 | 8.2 | 4 | 9.1 | 13.3 | 7 |
Ulcer | Y | N | N | Y | N | Y | Y |
Mitotic rate | 5 | 5 | 8 | 3 | 7 | 1 | 7 |
Diameter(mm) | 11 | 10 | 17 | 9 | 11 | 15 | 12 |
SLN metastasis | Y | Y | Y | N | Y (mac) | NP | Y (mac) |
Outcome | DOD 18m | NED 53m | NED 20m | NED 6m | NED 18m | NED 72m | DOD 24m |
Fusion transcript by RNA-Seq | EML4-BRAF, BRAF-EML4 | BAIAP2L1-BRAF, ARID1B-SNX9 | TPM3-NTRK1, PTPRZ1-NFAM1 | TPM3-ALK, IL6R-TPM3, IL6 Intergenic | TPM3-NTRK1 | None | Failed |
BRAF mutation | Negative | Negative | Negative | Negative | Negative | Negative | Negative |
NRAS mutation | Negative | Negative | Negative | Negative | Negative | Negative | Negative |
TERT promoter mutation | −124C>T | Negative | Negative | Negative | Negative | Negative | −124C>T |
TERT mRNA ISH | Positive | Negative | Negative | Negative | Negative | Negative | Failed |
Abbreviations: M: male; F: female; y: years old; m: months; SLN: sentinel lymph node; Y: yes; mac: macrometastasis; NP: not performed; DOD: dead of disease; NED: no evidence of disease; ISH: in situ hybridization.