Rare TERT Promoter Mutations Present in Benign and Malignant Cutaneous Vascular Tumors
Abstract
:1. Introduction
2. Materials and Methods
2.1. Sample Selection
2.2. DNA Isolation
2.3. Targeted Sequencing
3. Results
3.1. Mutation Analysis for TERT Promoter Mutations
3.2. Associations of Clinical and Pathological Parameters with TERT Promoter Status
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Hemangioma/Vascular Malformation | All | WT | GNA Mutant | RAS Mutant | TERT-P-Mutant | p-Value * | |
n = 64 | n = 43 | n = 16 $ | n = 2 | n = 4 $ | |||
Mean age (years) | 53 | 54 | 48 | 60 | 57 | 0.4 | |
Sex | Female | 28 | 20 | 5 $ | 0 | 3 $ | 0.36 |
Male | 35 # | 22 | 10 # | 2 | 1 | ||
Sites of involvement | head/neck | 21 | 16 | 3 $ | 1 | 2 $ | 0.06 |
ventral trunk | 16 | 8 | 7 | 1 | 0 | ||
dorsal trunk | 13 | 7 | 6 | 0 | 0 | ||
upper extremity | 5 | 4 | 0 | 0 | 1 | ||
lower extremity | 7 | 7 | 0 | 0 | 0 | ||
LND | 2 | 1 | 0 | 0 | 1 | ||
Angiosarcoma | All | WT | GNA Mutant | RAS Mutant | TERT-P-Mutant | p-Value * | |
n = 19 | n = 15 | n = 0 | n = 3 | n = 1 | |||
Mean age (years) | 67 | 65 | - | 75 | 74 | 0.4 | |
Sex | Female | 15 | 11 | - | 3 | 1 | 1.0 |
Male | 4 | 4 | 0 | 0 | |||
Sites of involvement | head/neck | 8 | 6 | - | 2 | 0 | 1.0 |
ventral trunk | 7 | 5 | - | 1 | 1 | ||
dorsal trunk | 0 | 0 | - | 0 | 0 | ||
upper extremity | 0 | 0 | - | 0 | 0 | ||
lower extremity | 1 | 1 | - | 0 | 0 | ||
LND | 3 | 3 | - | 0 | 0 | ||
Kaposi‘s sarcoma | All | WT | GNA Mutant | RAS Mutant | TERT-P-Mutant | p-Value * | |
n = 21 | n = 19 | n = 0 | n = 0 | n = 2 | |||
Mean age (years) | 56 | 58 | - | - | 34 | 0.1 | |
Sex | Female | 4 | 4 | - | - | 0 | 1.0 |
Male | 16 ! | 14 ! | 2 | ||||
Sites of involvement | head/neck | 2 | 2 | - | - | 0 | 0.13 |
ventral trunk | 2 | 1 | - | - | 1 | ||
dorsal trunk | 0 | 0 | - | - | 0 | ||
upper extremity | 2 | 1 | - | - | 1 | ||
lower extremity | 13 | 13 | - | - | 0 | ||
LND | 2 | 2 | - | - | 0 |
Hemangioma/Vascular Malformation | All | WT | GNA Mutant | RAS Mutant | TERT-P-Mutant |
---|---|---|---|---|---|
n = 64 | n = 43 | n = 16 $ | n = 2 | n = 4 $ | |
lobular capillary/pyogenic granuloma | 7 | 3 | 3 | 1 | 0 |
microvenular | 6 | 6 | 0 | 0 | 0 |
cherry/senile # | 25 | 10 | 13 $ | 1 | 2 $ |
tufted | 1 | 1 | 0 | 0 | 0 |
Angiokeratoma + | 3 | 3 | 0 | 0 | 0 |
Arteriovenous + | 4 | 4 | 0 | 0 | 0 |
superficial hemosiderotic lymphovascular +x | 2 | 2 | 0 | 0 | 0 |
venous/cavernous + | 16 | 14 | 0 | 0 | 2 |
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Jansen, P.; Lodde, G.C.; Zaremba, A.; Thielmann, C.M.; Matull, J.; Müller, H.; Möller, I.; Sucker, A.; Esser, S.; Schaller, J.; et al. Rare TERT Promoter Mutations Present in Benign and Malignant Cutaneous Vascular Tumors. Dermato 2021, 1, 18-25. https://0-doi-org.brum.beds.ac.uk/10.3390/dermato1010003
Jansen P, Lodde GC, Zaremba A, Thielmann CM, Matull J, Müller H, Möller I, Sucker A, Esser S, Schaller J, et al. Rare TERT Promoter Mutations Present in Benign and Malignant Cutaneous Vascular Tumors. Dermato. 2021; 1(1):18-25. https://0-doi-org.brum.beds.ac.uk/10.3390/dermato1010003
Chicago/Turabian StyleJansen, Philipp, Georg Christian Lodde, Anne Zaremba, Carl Maximilian Thielmann, Johanna Matull, Hansgeorg Müller, Inga Möller, Antje Sucker, Stefan Esser, Jörg Schaller, and et al. 2021. "Rare TERT Promoter Mutations Present in Benign and Malignant Cutaneous Vascular Tumors" Dermato 1, no. 1: 18-25. https://0-doi-org.brum.beds.ac.uk/10.3390/dermato1010003