Table 2.
All the KS patients that have developed SCC, ordered by the age at which the first tumor appeared. Yellow patients have been published previously to this study. SCC: Squamous Cell Carcinoma; WD: Well differentiated; MD: Moderately differentiated; AS: Altered splicing; RT: Reduced transcription; PTC: Premature termination codon; FS: Frameshift; UD: Unpublished data
| Gender, Age | Mutation | Protein | Age of cancer | Localisation of SCC | Histopath. of SCC | Outcome | Refs |
|---|---|---|---|---|---|---|---|
| M, 16 |
ISV9-6 T > A c.1140-6 T > A |
FS and PTC | 16 | Right lower leg | WD aggressive SCC |
Present for 10 years as a hyperkeratotic plaque, then progress in 2 months. Deceased. |
[32] |
| F, 23 | UD | UD | 23 | Right hand | Ulcerative and invasive MD SCC | Methastasic and Nodes affected | [33] |
| M, 40 | c.1761 T > A and c.1089del/c.1089 + 1del | p.Y587X and Exon 8 skipped. (p.L363 fs) | 27 | Palm of the right hand | SCC recurrent 4 times | Recurrent SCC | [34] |
| F, 31 | c.676 C > T | p.Q226X | 29 | Fingers and dorsal hand | WD early agressive | Still alive | UD |
| M, 34 | c. 456dupA | p.D153R fsX4 | 33 | Oral mucosa, extending to tongue, lymph node metastases | WD, early infiltrating SCC with metastases | Deceased at 35 years | [2] |
| F, 42 | c.750G > A | p.W250X | 34 | Hard palate | WD SCC: unresectable treated with radiation | 2 years follow up no recurrence. Now deceased. | [35] |
| F, 40 | c. 550-551insA | p. S184 L fsX1 | 38 | Fingers and hand | SCC metastasic to limph nodes | Deceased at 40 years | [15] |
| M, 49 | c.910G > T | p. E304X | 42, [20, 24] | Right shoulder, upper lip, dorsum of the right hand | SCC | UD | [36] |
| M, 60 | c.676insC | p.W250X | 43, 45 | Lip and later in penis | SCC | UD | [37] |
| M, 48 | c.958-1G > A |
AS Intron 7 |
43 | Upper Lip and dorsum of the hand | 2 infiltrating WD SCC | Still alive | [2] and [22] |
| M, 60 | c.958-1G > A |
AS Intron 7 |
43 (44, 45, 45, 56) |
1 upper lip; 2 third right finger; 3 right hand dorsum; 4 lower lip 5 fourth interdigital space of the left hand |
1–3 Infiltrating SCC All WD; 4, 5 in situ SCC. |
Still alive | [2] |
| F, 60 | g.6000982_6009222del |
IVS13_15del Large deletion and PTC in exon14 |
45, 53 |
1 SCC of the left hand 2 SCC of the lower lip |
1 WD 2 WD early invasive |
Deceased at the age of 60 years | [23] and [11] |
| M, 49 | c.910G > T | p. E304X | 48 | Foot |
Poorly differentiated SCC Metastasizing Diffuse metastases (skin & lung) |
Deceased at the age of 50 years | [2] |
| M, 52 | c.328C > T | p. R110X | 48 | lip | SCC metastasic to limph nodes | Deceased at the age of 52 years | [15] |
| M, 71 | c.328C > T | p. R110X | 50 | Face and hands |
Hyperkeratotic SCC in situ Multiple in situ SCCs |
Still alive | [38] |
| F, 58 | c.96_97delAG | p. R32S fsX63 | 52 | Left arm | Poorly differentiated SCC | Amputation of left arm | [2] |
| F, 52 | c.95_96delAG | p.R32fsX63 | 52 | Lower lip | SCC | No follow up | [39] |
| M, 65 | g.70250_74168del | p. P381R fsX36 | 52 (53, 55) |
1 lower gingival mucosa and regional lymph nodes; 2 scalp; 3 lower lip |
Infiltrating SCC, all WD | Still alive | [2] |
| F, 55 | UD | UD | 55 | buccal mucosa extended to both lips | SCC | Treated with radiation therapy with partial response | [40] |
| M, 57 | c.328 C > T | p. R110X | 57 | Left hand | moderate-to-poorly differentiated deeply invasive SCC | Recurrent, requiring axillary node clearance and amputation. | [10] and [41] |
| M, 65 | c.1209C > G | p. Y403X | 57 | Left Hand | Invasive SCC WD | Still alive | [2] |
| F, 78 | c.328C > T | p. R110X | 66 | Face and hands | Invasive SCC, BCC, In situ SCC | Still alive | [38] |