BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Design
2.2. DNA Extraction and Next Generation Sequencing
2.3. Statistical Analysis
3. Results
3.1. Clinical Features
3.2. Mutation Analysis
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Acknowledgments
Conflicts of Interest
References
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CHARACTERISTIC | Patients (n = 25) | % |
---|---|---|
Median age at diagnosis (range), years | 70 (49–91) | |
Male/Female sex | 16/9 | 64/36 |
Mean follow up (range), months | 36 (9–78) | |
Anatomical site | ||
Nasal cavity | 13 | 52 |
Paranasal sinuses | 12 | 48 |
Histological variables | ||
Mitosis (<1 / >1) | 14/11 | 56/44 |
Necrosis (present/absent) | 10/15 | 40/60 |
Ulceration (present/absent) | 14/11 | 56/44 |
Status at end of follow-up | ||
Death from disease | 17 | 68 |
Death from uncertain cause | 5 | 20 |
Alive with disease | 2 | 8 |
Alive with no evidence of disease | 1 | 4 |
Disease’s stage at diagnosis | ||
pT2 | 3 | 12 |
pT3 | 9 | 36 |
pT4 | 8 | 32 |
N0/N+ | 21/4 | 84/16 |
M0/M1 | 24/1 | 96/4 |
Unknown | 5 | 20 |
CHARACTERISTIC | Cases with Pathogenetic Gene Mutations | Cases with Mutations in BRAF + RAS Genes | ||||
---|---|---|---|---|---|---|
No. | % | p | No. | % | p | |
Total cases (n = 25) | 16 | 64.0 | 11 | 44.0 | ||
Sex | ||||||
Female (n = 9) | 6 | 66.7 | 1.000 | 4 | 44.4 | 1.000 |
Male (n = 16) | 10 | 62.5 | 7 | 43.8 | ||
Population origin | ||||||
Sardinian (n = 9) | 6 | 66.7 | 1.000 | 6 | 66.7 | 0.115 |
Non-Sardinian (n = 16) | 10 | 62.5 | 5 | 31.3 | ||
Anatomical site | ||||||
Nasal cavity (n = 13) | 8 | 61.5 | 0.881 | 7 | 53.8 | 0.453 |
Paranasal sinuses (n = 12) | 8 | 66.7 | 4 | 33.3 | ||
Mitosis | ||||||
< 1 (n = 14) | 7 | 50.0 | 0.208 | 5 | 35.7 | 0.592 |
≥1 (n = 11) | 9 | 81.8 | 6 | 54.5 | ||
Necrosis | ||||||
Present (n = 10) | 6 | 60.0 | 1.000 | 4 | 40.0 | 1.000 |
Absent (n = 15) | 10 | 66.7 | 7 | 46.7 | ||
Ulceration | ||||||
Present (n = 14) | 9 | 64.3 | 1.000 | 6 | 42.9 | 0.783 |
Absent (n = 11) | 7 | 63.6 | 5 | 45.5 | ||
Disease stage at diagnosis | ||||||
pT2-3N0 (n = 8) | 5 | 62.5 | 0.970 | 3 | 37.5 | 0.875 |
pT4N0 (n = 7) | 5 | 71.4 | 4 | 57.1 | ||
pTanyN+/M1 (n = 5) | 3 | 60.0 | 2 | 40.0 | ||
Unknown (n = 5) | 3 | 60.0 | 2 | 40.0 |
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Colombino, M.; Paliogiannis, P.; Cossu, A.; De Re, V.; Miolo, G.; Botti, G.; Scognamiglio, G.; Ascierto, P.A.; Santeufemia, D.A.; Fraggetta, F.; et al. BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas. J. Clin. Med. 2019, 8, 1577. https://doi.org/10.3390/jcm8101577
Colombino M, Paliogiannis P, Cossu A, De Re V, Miolo G, Botti G, Scognamiglio G, Ascierto PA, Santeufemia DA, Fraggetta F, et al. BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas. Journal of Clinical Medicine. 2019; 8(10):1577. https://doi.org/10.3390/jcm8101577
Chicago/Turabian StyleColombino, Maria, Panagiotis Paliogiannis, Antonio Cossu, Valli De Re, Gianmaria Miolo, Gerardo Botti, Giosuè Scognamiglio, Paolo Antonio Ascierto, Davide Adriano Santeufemia, Filippo Fraggetta, and et al. 2019. "BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas" Journal of Clinical Medicine 8, no. 10: 1577. https://doi.org/10.3390/jcm8101577
APA StyleColombino, M., Paliogiannis, P., Cossu, A., De Re, V., Miolo, G., Botti, G., Scognamiglio, G., Ascierto, P. A., Santeufemia, D. A., Fraggetta, F., Manca, A., Sini, M. C., Casula, M., Palomba, G., Pisano, M., Doneddu, V., Lissia, A., Fedeli, M. A., & Palmieri, G. (2019). BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas. Journal of Clinical Medicine, 8(10), 1577. https://doi.org/10.3390/jcm8101577