Table 1.

Patients and cutaneous lesions characteristics

PatientGender (M, male; F, female)AgeCancerDelay monthsLesionsSiteMutationCystic lesions
1M65RCC61 KANoseTGFBR1-P83LFace
2M49RCC91 KAThighWTFace
3M44RCC31 KACheekTP53-G293RFace
4F76RCC71 KAForearmWTAxillary, genitals
Cystic folliculitisAxillaWT
VulvaNT
1 in situ SCCCheekTP53-C277F
5M70RCC51 KAForearmNTFace
6F74HCC41 KACheekWTFace
1 KACheekWT
1 KAElbowHRAS-G13V
7F69RCC31 KA-like SCCPalmHRAS- G13RFace, buttocks
Multiple KAsDorsal handWT
NeckWT
TorsoWT
PFButtocksWT
8M51MM41 KA-like SCCCheekWTFace
9M79RCC61 KA-like SCCBackWTFace
10M46RCC31 KA-like SCCNoseTGFBR1-G374RFace
Cystic folliculitisNoseWT
11M57RCC5PFButtocksWTFace, buttocks
Cystic folliculitisFaceWT
1 KAElbowWT
12F60RCC3PFButtocksTP53-R181HFace, buttocks
13F41MM1PFButtocksNTFace, buttocks
14M62RCC2PFLegsWTFace, buttocks
PFNeckHRAS-G12S+G12D
15F41MM3Multiple cystic folliculitisButtocksWTFace, buttocks
16MRCC2Multiple cystic folliculitisThigh and trunkNTLegs, trunk buttocks
17M50RCC1Multiple cystic folliculitisFaceWTFace, buttocks

▪ UV signature.

⊡ Non-UV induced.

Details of the mutated sequences:

TP53-R181H for mutation in exon 5 of TP53 (NM_000546.6) encoded c.542G>A; p.Arg181His.

TP53-C277F for mutation in exon 8 of TP53 (NM_000546.6) encoded c.830G>T; p.Cys277Phe.

TP53-G293R for mutation in exon 8 of TP53 (NM_000546.6) encoded c.877G>A; p.Gly293Arg.

HRAS-G13V for mutation in exon 2 of HRAS (NM_005343.2) encoded c.38G>T; p.Gly13Val.

HRAS-G13R for mutation in exon 2 of HRAS (NM_005343.2) encoded c.37G>C; p.Gly13Arg.

HRAS-G12S+G12D for double mutation in exon 2 of HRAS (NM_005343.2) encoded c.34G>A and c.35G>A; p.Gly12Ser and p.Gly12ASP.

TGFBR1-P83L for mutation in exon 2 of TGFBR1 (NM_004612.2) encoded c.248C>T; p.Pro83Leu.

TGFBR1-G374R for a mutation in exon 6 of TGFBR1 (NM_004612.2) encoded c.1120G>A; p.Gly374Arg.

Delay (month): Interval in months between the initiation of sorafenib and the emergence of the first skin lesion.

Abbreviations: WT, wild type; NT, not tested.