Table I.
Individual patient data for epidermolysis bullosa (EB) subtype, timing of squamous cell carcinomas (SCC(s)), mortality, treatments and genotype
| Pat. No. | EB subtype | Sex | Age at 1st SCC, years | Time to 2nd SCC, years | SCCs n | Age at death, years | Survival from 1st SCC, years¢ | Cause of death | Excisions n | Re-excsions n | Amputations n | Prostheses n | Staging | Local recurrence | Loco-regionai recurrence | Distant meta-stases | LN dissection | Other treatment | Gene | Mutation(s) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | RDEB-S | M | 13.4 | 0 | 2 | 17.2 | 3.8 | see | 2 | 1 | 0 | 0 | PET-CT | Y | Y | N | N | Cet | COL7A1 | c.497insA,p.Gln166Glnfs¢14/c.4918delG,p.Gly1640Valfs¢70 |
| 2 | RDEB-S | F | 18 | 0.9 | 5 | 19.4 | 1.4 | sec | 5 | 3 | 0 | 0 | PET-CT | Y | Y | Y | N | R,Er,Ret | COL7A1 | c.6501+1G>C; c.7012C>T,p.Arg2338¢ |
| 3 | RDEB-S | M | 21.2 | – | 1 | – | – | – | 1 | 1 | 0 | 0 | – | N | N | N | N | – | COL7A1 | c.7288del29, p.Pro2430Argfs¢43; c.8440C>T,p.Arg2814¢ |
| 4 | RDEB-S | F | 22.3 | NK | 1 | 30.1 | 7.8 | sec | NK | NK | NK | NK | NK | NK | NK | NK | NK | NK | COL7A1 | c.6696dupC, p.Gly2233Argfs¢57 c.7786delG,p.Gly2596Valfs¢35 |
| 5 | RDEB-S | M | 22.4 | 1.9 | 2 | 24.7 | 2.4 | sec | 2 | 2 | 1 | 0 | PET-CT | Y | Y | N | Y | I, Ret, ECT | COL7A1 | c.425A>G,p.Lys142Arg/c.565C>T,p.Gln189¢ |
| 6 | RDEB-S | F | 22.6 | – | 1 | 24.2 | 1.6 | sec | 1 | 1 | 1 | 1 | PET-CT | Y | Y | N | N | ECT | – | NK/NK |
| 7 | RDEB-S | F | 22.9 | 1.8 | 5 | 28.9 | 6 | sec | 5 | 0 | 0 | 0 | LN biopsy | N | Y | NE | Y | – | – | NK/NK |
| 8 | RDEB-S | F | 23.1 | 0.6 | 2 | 24.4 | 1.3 | sec | 1 | 0 | 0 | 0 | LN biopsy | N | Y | N | N | R, C | – | NK/NK |
| 9 | RDEB-S | M | 23.1 | – | 1 | 24.3 | 1.2 | Renal failure | 1 | 0 | 0 | 0 | PET-CT | N | N | N | N | – | COL7A1 | c.4172dupC;p.Pro1391Argfs¢ll/c.4172dupC;p. Pro1391Argfs¢ll |
| 10 | RDEB-S | M | 23.6 | 5 | 9 | 28.6 | 5 | SCC | 9 | 9 | 1 | 1 | PET-CT | N | Y | N | Y | R | – | NK/NK |
| 11 | RDEB-S | F | 24.9 | 0.03 | 6 | – | – | – | 6 | 2 | 0 | 0 | PET-CT | Y | Y | N | N | I, Ret, Cem | COL7A1 | c.7139G>A,p.Gly2380Glu; c.8527-lG>A |
| 12 | RDEB-S | M | 25.9 | 1 | 3 | – | – | – | 3 | 2 | 1 | 0 | PET-CT | N | N | N | N | – | COL7A1 | c.425A>G,p.Lys142Arg/c.425A>G,p.Lys142Arg |
| 13 | RDEB-S | M | 26.6 | – | 1 | 27.7 | 1 | SCC | 1 | 0 | 0 | 0 | PET-CT | N | Y | N | Y | – | COL7A1 | c.425A>G,p.Lys142Arg/c.425A>G,p.Lys142Arg |
| 14 | RDEB-S | M | 27.4 | 0 | 2 | 27.9 | 0.5 | SCC | 1 | 0 | 0 | 0 | PET-CT | N | N | N | N | – | COL7A1 | c.7786delG,p. p.Gly2596Valfs¢35/NK |
| 15 | RDEB-S | F | 28.5 | 1.8 | 6 | 37 | 8.5 | SCC | 5 | 2 | 0 | 0 | CT | Y | Y | N | N | R | NK/NK | |
| 16 | RDEB-S | F | 29.5 | 3.3 | 3 | 33.4 | 3.3 | SCC | 1 | 0 | 0 | 0 | PET-CT | N | N | N | N | – | – | NK/NK |
| 17 | RDEB-S | M | 31.3 | 0.5 | 3 | – | – | – | 3 | 0 | 0 | 0 | PET-CT | N | N | N | N | – | COL7A1 | c.425G>A,p.Lys142Arg/c.425G>A,p.Lys142Arg |
| 18 | RDEB-S | F | 31.4 | 2.3 | 6 | – | – | – | 6 | 5 | 2 | 0 | PET-CT | N | N | N | N | I | COL7A1 | c.1732C>T,p.Arg578¢/c.7786delG, p.Gly2596Valfs¢35 |
| 19 | RDEB-S | M | 31.5 | 0.3 | 9 | – | – | – | 7 | 2 | 2 | 0 | PET-CT | Y | N | N | N | – | COL7A1 | c.4047-lG>A/3840delC, p.Thrl280Thrfs¢45 |
| 20 | RDEB-S | M | 32.4 | 0.9 | 5 | 34.6 | 2.1 | SCC | 5 | 0 | 0 | 0 | LN biopsy | N | Y | N | N | C | NK/NK | |
| 21 | RDEB-S | M | 32.7 | – | 1 | – | – | – | 1 | 1 | 0 | 0 | N | N | N | N | – | COL7A1 | c.520G>A,p.Gly174Arg/c.3631dupC,p. Gln1211Profs¢8 | |
| 22 | RDEB-S | M | 34.4 | 1 | 44 | – | – | – | 44 | 7 | 0 | 0 | PET-CT | N | N | N | N | – | COL7A1 | C7786delG, p.Gly2596Valfs¢35/c.1732C>T,p. Arg578¢ |
| 23 | RDEB-S | F | 35.7 | 1.7 | 8 | 40.5 | 4.8 | SCC | 3 | 2 | 4 | 1 | CT | N | N | Y | N | I | COL7A1 | NK/NK |
| 24 | RDEB-S | M | 35.9 | – | 1 | 36.9 | 1 | SCC | 0 | 0 | 0 | 0 | – | N | NE | NE | N | – | – | NK/NK |
| 25 | RDEB-S | F | 36.1 | 0 | 6 | – | – | – | 5 | 0 | 1 | 0 | PET-CT | N | N | N | N | ECT | COL7A1 | c.1732C>T,p.Arg578¢/c.7474C>T,p.Arg2492¢ |
| 26 | RDEB-S | F | 36.2 | 0.1 | 22 | 46.2 | 10 | SCC | 18 | 0 | 0 | 0 | PET-CT | N | Y | N | Y | R | – | NK/NK |
| 27 | RDEB-S | M | 40.3 | – | 1 | 42.1 | 1.8 | SCC | 1 | 2 | 0 | 0 | – | N | Y | N | N | – | – | NK/NK |
| 28 | RDEB-S | M | 42.5 | 0.9 | 17 | 55.1 | 12.6 | SCC | 17 | 2 | 2 | 0 | CT | Y | Y | Y | N | C | NK/NK | |
| 29 | RDEB-S | F | 49 | – | 1 | – | – | – | 1 | 1 | 0 | 1 | PET-CT | N | N | N | N | – | – | NK/NK |
| 30 | RDEB-S | F | 50.1 | 0.6 | 2 | 52.5 | 2.4 | SCC | 2 | 0 | 0 | 0 | – | N | NE | NE | N | – | – | NK/NK |
| 31 | RDEB-S | F | 51.8 | 0 | 4 | 53 | 1.2 | SCC | 4 | 0 | 0 | 0 | LN biopsy | N | Y | N | Y | – | – | NK/NK |
| 32 | RDEB-Int | M | 41.8 | – | 1 | – | – | – | 1 | 0 | 0 | 0 | – | N | N | N | N | – | COL7A1 | c.3276+1G>A/NK |
| 33 | RDEB-Int | F | 68.4 | – | 1 | – | – | – | 1 | 0 | 0 | 0 | – | N | N | N | N | – | – | NK/NK |
| 34 | RDEB-I | F | 44.2 | – | 1 | – | – | – | 1 | 0 | 0 | 0 | – | N | N | N | N | – | COL7A1 | c.6637G>A,p.Gly2213Arg/c.8372G>C,p. Arg2791Pro |
| 35 | RDEB-Pru | F | 31.1 | 1 | 10 | – | – | – | 8 | 0 | 0 | 0 | PET-CT | N | N | N | N | PDT, C&C | COL7A1 | c.6081delC,p.Pro2027Profs¢179/NK |
| 36 | DDEB | F | 47.1 | 2.3 | 7 | – | – | – | 3 | 0 | 0 | 0 | – | N | N | N | N | – | COL7A1 | c.6501+1G>C |
| 37 | DDEB | M | 49.1 | 0.7 | 2 | – | – | – | 1 | – | 1 | 0 | – | N | N | N | N | – | – | NK |
| 38 | DDEB | F | 60.1 | 0.8 | 4 | – | – | – | 4 | 0 | 0 | 0 | – | N | N | N | N | – | COL7A1 | c.8129G>T,p.Gly2710Val |
| 39 | DDEB | F | 66.9 | – | 1 | 69.7 | 2.7 | Myelo-dysplasia | 1 | 1 | 0 | 0 | – | N | N | N | N | – | COL7A1 | c.6900+4A>G |
| 40 | DDEB | M | 89.3 | – | 1 | 89.7 | 0.4 | Pneumonia | 1 | 0 | 0 | 0 | – | N | N | N | N | – | COL7A1 | c.6900+4A>G |
| 41 | JEB-Int | M | 33.2 | 0.1 | 2 | 34.3 | 1 | SCC | 2 | 5 | 0 | 0 | PET-CT | Y | Y | N | Y | Cet | – | NK/NK |
| 42 | JEB-Int | M | 40.6 | – | 5 | – | – | – | 3 | 1 | 1 | 1 | PET-CT | N | N | N | N | – | LAMB3 | c.1587_1588delAG,p.Thr529Thrfs¢6/c.1587_1588delAG,p.Thr529Thrfs¢6 |
| 43 | JEB-Int | F | 74.3 | – | 1 | 74.6 | 0.4 | SCC | 0 | 0 | 0 | 0 | – | N | NE | NE | N | – | – | NK/NK |
| 44 | KEB | F | 30.1 | – | 5 | – | – | – | 5 | 0 | 0 | 0 | – | N | N | N | N | – | – | NK/NK |
RDEB-S: recessive dystrophic epidermolysis bullosa severe; RDEB-Int: recessive dystrophic epidermolysis bullosa intermediate; RDEB-Inv: recessive dystrophic epidermolysis bullosa inversa; RDEB-Pru: recessive dystrophic epidermolysis bullosa pruriginosa; DDEB: dominant dystrophic epidermolysis bullosa; JEB-Int: junctional epidermolysis bullosa intermediate; KEB: Kindler epidermolysis bullosa; SCC: squamous cell carcinoma; NK: not known; NE: not evaluated; C: conventional chemotherapy; C&C: curettage and cautery; Cem: cemiplimab; Cet: cetuximab; ECT: electrochemotherapy; Er: erlotinib; I: imiquimod; PD: photodynamic therapy; R: radiotherapy; Ret: systemic retinoid.
¢
denotes that the patient was alive at the end of the study period.