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Bone and soft tissue sarcomas, tumors of the skin

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BRAF mutation V600 in tumor cells - a factor of adverse course of melanoma skin?

Abstract

Background. To investigate the role of BRAF mutation in the prognosis of skin melanoma. Patients and methods. 114 patients with skin melanoma in a stage of progression after previous surgical treatment were included in the study. Depending on the results of a molecular genetic test for the presence of a BRAF mutant, the patients were divided into 2 groups - with the mutant gene and the wild type. All patients had noted by time to progression of the disease since the initial treatment of the skin melanoma. By using a statistical program, we studied the factors that influenced on time to progression, and the role of the BRAF gene mutation on relapse-free period. Results. There was no significant effect of BRAF V600-mutant on the duration of the relapse-free period in skin melanoma patients and on the nature of the first recurrence of the disease. At the same time, the study found out that the mutation in the BRAF gene was more characteristic to the younger age group - patients under the age of 50 years (p = 0.002). Conclusions. The frequency of BRAF V600-mutant was 67.5% of cases. The absence of the effect in BRAF V600 mutation-positive melanoma was confirmed by stratification according to the stages of the disease, and it was also shown that the mutation did not significantly affect the nature of disease progression. The results of our study did not provide grounds to consider the BRAF mutant melanoma to be a predictive factor in association with aggressiveness of the skin melanoma.

About the Authors

O. E. Abramova
A. Tsyb Medical Radiological Research Centre - Branch of the National Medical Radiology Research Centre of the Ministry of Health of the Russian Federation
Russian Federation


D. V. Kudryavtsev
A. Tsyb Medical Radiological Research Centre - Branch of the National Medical Radiology Research Centre of the Ministry of Health of the Russian Federation
Russian Federation


A. P. Shinkarkina
A. Tsyb Medical Radiological Research Centre - Branch of the National Medical Radiology Research Centre of the Ministry of Health of the Russian Federation
Russian Federation


Yu. V. Gumenetskaya
A. Tsyb Medical Radiological Research Centre - Branch of the National Medical Radiology Research Centre of the Ministry of Health of the Russian Federation
Russian Federation


G. T. Kudryavtseva
A. Tsyb Medical Radiological Research Centre - Branch of the National Medical Radiology Research Centre of the Ministry of Health of the Russian Federation
Russian Federation


M. V. Konova
A. Tsyb Medical Radiological Research Centre - Branch of the National Medical Radiology Research Centre of the Ministry of Health of the Russian Federation
Russian Federation


References

1. Кит ОИ, Водолажский ДИ, Ефимова ИЮ и соавт. Связь клинико-морфологических особенностей и мутационного статуса гена BRAF в качестве прогностического фактора у больных меланомой кожи. Медицинская генетика. 2016;6(168):19-24.

2. Trotter SC, Sroa N, Wmkelmann RR et al. A Global Review of Melanoma Follow-up Guidelines. J Clin Aesthet Dermatol. 2013;6(9):18-26.

3. Bertolotto C. Melanoma: from melanocyte to genetic alterations and clinical options. Scientifica. 2013:635203.

4. Каприн АД, Старинский ВВ, Петрова ГВ. Злокачественные новообразования в России в 2015 году (заболеваемость и смертность). МНИОИ им. П.А. Герцена - филиал ФГБУ «НМИЦ радиологии» Минздрава России. 2016:250.

5. Miller AJ, Mihm MC. Melanoma. N Engl J Med. 2006;355(1):51-65.

6. Smalley KS, Sondak VK, Weber JS. C-KIT signaling as the driving oncogenic event in sub-groups of melanomas. Histol Histopathol. 2009;24(5):643-650.

7. Davies MA, Samuels Y. Analysis of the genome to personalize therapy for melanoma. Oncogene. 2010;29(41):5545-5555.

8. Франк ГА, Имянитов ЕН, Завалишина ЛЭ и соавт. Первое Всероссийское молекулярно-эпидемиологическое исследование меланомы: результаты анализа мутаций в гене BRAF. Архив патологии. 2014;76(3):65-73.

9. Hutchinson KE, Lipson D, Stephens PJ et al. BRAF fusions define a distinct molecular subset of melanomas with potential sensitivity to MEK inhibition. Clin Cancer Res. 2013;19(24):6696-6702.

10. Davies H, Bignell GR, Cox C et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417(6892):949-954.

11. Long GV, Menzies AM, Nargial AM et al. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol. 2011;29(10):1239-1346.

12. Lovly CM, Dablman KB, Fobn LE et al. Routine multiplex mutational profiling of melanomas enables enrollment in genotype - driven therapeutic trials. PLoS One. 2012;7(4):e35309.

13. Lin K, Baritaki S, Militello L et al. The role of B-RAF mutations in melanoma and the induction of EMT via dysregulation of the NF-KB/Snail/RKIP/PTEN circuit. Genes Cancer. 2010;1(5):409-420.

14. Гребенникова ОП, Прилепо ВН. Меланома. В кн.: Онкология для практикующих врачей (ред. С.С. Чистякова). М.: Товарищество научных издательств КМК, Авторская академия. 2009:548-563.

15. Орлова КВ, Харкевич ГЮ, Утяшев ИА и соавт. Персонализированная терапия метастатической меланомы кожи, Эффективная фармакотерапия. 2016:16-25.

16. Кит ОИ, Водолажский ДИ, Златник ЕЮ и соавт. Ассоциация мутационного статуса гена BRAF и клинико-морфологических особенностей меланомы кожи. Кубанский научный медицинский вестник. 2016;158(3):67-71.

17. Любченко ЛН, Черненко ПА, Хатырев СА и соавт. Клинико-генетическая гетерогенность меланомы кожи. Злокачественные опухоли. 2012;2(2):81-90.


Review

For citations:


Abramova O.E., Kudryavtsev D.V., Shinkarkina A.P., Gumenetskaya Yu.V., Kudryavtseva G.T., Konova M.V. BRAF mutation V600 in tumor cells - a factor of adverse course of melanoma skin? Bone and soft tissue sarcomas, tumors of the skin. 2019;11(2):12-17. (In Russ.)

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ISSN 2219-4614 (Print)
ISSN 2782-3687 (Online)