Изучение клинико-генетической гетерогенности при наследственной и спорадической формах меланомы кожи
Диссертация
Молекулярно-генетическое исследование гена ВЛАР был проведено с использованием двух методик: 102 образца опухолевой ткани было исследованы при помощи метода биологических микрочипов, из них 56 образцов было протестировано с использованием аллель-специфичной ПЦР в режиме реального времени. При этом расхождение в результатах было выявлено в 3-х образцах, соответственно результаты исследования… Читать ещё >
Список литературы
- Давыдов, М.И. Статистика злокачественных новообразований в Россиии странах СНГ в 2008 г. / М. И. Давыдов, Е. М. Аксель // Вестник Российского онкологического научного центра имени Н. Н. Блохина РАМН. 2010. — Т. 21, № 2 (прил. 1).
- Демидов, JI.B. Адъювантное лечение больных меланомой кожи / JT.B.
- Демидов, Г. Ю. Харкевич // Практическая онкология. 2001. — № 4(8).- С. 42−49.
- Емельянова, М. А. Определение мутаций в гене KRAS в опухолевыхклетках с помощью биологических микрочипов / М. А. Емельянова, Ф. А. Амосенко, А. В. Чудинов и др. // Молекулярная биология. 2011. -Т. 45, № 5.-С. 797−803.
- Копнин, Б.П. Опухолевые супрессоры и мутаторные гены. //
- Канцерогенез под ред. Д. Г. Заридзе М.: Медицина, 2004. — С. 125−56.
- Чечеткин, В.Р. Биочипы для медицинской диагностики / В. Р. Чечеткин,
- Д.В. Прокопенко, А. А. Макаров и др. // Российские нанотехнологии. -2006.- Т. 1,№ 1,2.
- Aguilo, R. Multiple independent primary cancers do not adversely affectsurvival of the lung cancer patient / R. Aguilo, F. Macia, M. Porta et al. // Eur. J. Cardiothorac. Surg. -2008. Vol. 34. — P. 1075−1080.
- Allgayer, H. Hereditary Tumors: From Genes to Clinical Consequences / H.
- Allgayer, H. Rehder, S. Fulda. Educational book. — Wiley Blackwell, 2008. -P. 411−420.
- Almoguera, C. Most human carcinomas of the exocrine pancreas containmutant c-K-ras genes / C. Almoguera, D. Shibata, K. Forrester et al. // Cell.- 1988. Vol. 53. — P. 549−554.
- Allen, A.C. Malignant melanoma- a clinicopathological analysis of the criteriafor diagnosis and prognosis / A.C. Allen, S. Spitz. // Cancer. 1953. — Vol. 6.-P. 1−45.
- A.latif S.I. The Dilemma of Multiple Primary Tumours (MPMs) as Rare
- Medical Condition / S.I. A. latif, M.E. Ibrahim // WebmedCentral CANCER. 2011. — Vol. 2. — WMC002502 Downloaded from http://www.webmedcentral.com.
- Bader, A.G. Oncogenic PI3K deregulates transcription and translation / A.G.
- Bader, S. Kang, L. Zhao et. al. // Nat. Rev. Cancer. 2005. -Vol. 5. — P. 921−929.
- Balch, C.M. Cutaneous melanoma: Prognosis and treatment resultsworldwide / C.M. Balch // Semin. Surg. Oncol. 1992 — Vol. 8. P. 400−414.
- Balch, C.M. Prognostic factors analysis of 17,600 melanoma patients: validation of the American Joint Committee on Cancer melanoma staging system / C.M. Balch, S.J. Soong, J.E. Gershenwald et al. // J Clin Oncol. -2001.-Vol. 19.-P. 3622−3634.
- Balch, C.M. The prognostic significance of ulceration of cutaneousmelanoma / C.M. Balch, J.A. Wilkerson, T.M. Murad et al. // Cancer. -1980. Vol. 45. — P. 3012−3017.
- Balch, C.M. Final version of 2009 AJCC melanoma staging andclassification / C.M. Balch, J.E. Gershenwald, S.J. Soong et al. // J. Clin. Oncol. 2009. — Vol. 27. — P. 6199−6206
- Bale, S.J. Mapping the. gene for hereditary cutaneous malignant melanomadysplastic nevus to chromosome lp / S.J. Bale, N.C. Dracopoli, M.A. Tucker et al. // N. Engl. J. Med. 1989. — Vol. 320. — P. 1367−1372.
- Banerji, U. BRAF and NRAS mutations in melanoma: potential relationshipsto clinical response to HSP90 inhibitors / U. Banerji, A. Affolter, I. Judson et al. // Mol. Cancer. Ther. 2008. — Vol. 7. — P. 737−739.
- Barnhill, R.L. Predicting five-year outcome for patients with cutaneousmelanoma in a population-based study / R.L. Barnhill, J.A. Fine, G.C. Roush et al. // Cancer. 1996. — Vol. 78. — P. 427−432.
- Bastian, B.C. Chromosomal gains and losses in primary cutaneousmelanomas detected by comparative genomic hybridization / B.C. Bastian, P.E. LeBoit, H. Hamm et al. // Cancer Res. 1998. — Vol. 58. — P. 21 702 175.
- Bastian, B.C. Hypothesis: a role for telomere crisis in spontaneous regressionof melanoma / B.C. Bastian // Arch. Dermatol. 2003. — Vol. 139. — P. 667 668.
- Bellet, R.E. Multiple primary malignancies in patients with cutaneousmelanoma / R.E. Bellet, I. Vaisman, M.J. Mastrangelo et al. // Cancer. -1977.-Vol. 40.-P. 1974−1981.
- Berger, M.F. Applications of genomics in melanoma oncogene discovery /
- M.F. Berger, L.A. Garraway // Hematol. Oncol. Clin. North. Am. 2009. -Vol. 23.-P. 397−414.
- Birck, A. Mutation and allelic loss of the PTEN/MMAC1 gene in primaryand metastatic melanoma biopsies / A. Birck, V. Ahrenkiel, J. Zeuthen et al. // J. Invest. Derm. 2000. — Vol. 114. — P. 277−280.
- Bishop, D.T. Melanoma Genetics Consortium. Geographical variation in thepenetrance of CDKN2A mutations for melanoma/ D.T. Bishop, F. Demenais, A.M. Goldstein et al. // J. Natl. Cancer Inst. 2002. — Vol. 94. -P. 894−903.
- Bishop, J.N. Management of familial melanoma / J.N. Bishop, M. Harland, J.
- Randerson-Moor et al. // Lancet Oncol. 2007. — Vol, 8. — P. 46−54.
- Blessing, K. Histological regression in primary cutaneous melanoma: recognition, prevalence and significance / K. Blessing, K.M. McLaren // Histopathology. 1992. — Vol. 20. — P. 315−322.
- Bos, J.L. ras oncogenes in human cancer: a review / J.L. Bos // Cancer Res.1989. Vol. 49. — P. 4682−4689.
- Box, N.F. MC1R genotype modifies risk of melanoma in familiessegregating CDKN2A mutations / N.F. Box, D.L. Duffy, W. Chen et al. // Am. J. Hum. Genet. 2001. — Vol. 69. — P. 765−773.
- Breslow A. Thickness, cross-sectional areas and depth of invasion in theprognosis of cutaneous melanoma / Breslow A. // Annals of Surgery. -1970.-Vol. 172. P. 902−908.
- Brochez, L. Inter-observer variation in the histopathological diagnosis ofclinically suspicious pigmented skin lesions / L. Brochez, E. Verhaeghe, E. Grosshans et al. // J. Pathol. 2002. — Vol. 196. — P. 459−466.
- Broekaert, S.M. Genetic and morphologic features for melanomaclassification / S.M. Broekaert, R. Roy, I. Okamoto et al. // Pigment Cell Melanoma Res. 2010. — Vol. 23. — P. 763−770.
- Brogelli, L. The prognostic significance of histologic regression in cutaneousmelanoma / L. Brogelli, U.M. Reali, S. Moretti et al. // Melanoma Res. -1992.-Vol. 2.-P. 87−91.
- Brose, M.S. BRAF and RAS mutations in human lung cancer and melanoma
- M.S. Brose, P. Volpe, M. Feldman et al. // Cancer Res. 2002. — Vol. 62. -P. 6997−7000.
- Cannon-Albright, L.A. Evidence against the reported linkage of thecutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36 / L.A. Cannon-Albright, D.E. Goldgar, E.C. Wright et al. // Am. J. Hum. Genet. 1990. — Vol. 46. — P. 912−918.
- Cardone, M.H. Regulation of cell death protease caspase-9 byphosphorylation / M.H. Cardone, N. Roy, H.R. Stennicke et al. // Science. -1998.-Vol. 282.-P. 1318−1321.
- Carreira, S. Mitf cooperates with Rbl and activates p21Cipl expression toregulate cell cycle progression / S. Carreira, J. Goodall, I. Aksan, et al. // Nature. 2005. — Vol. 433. — P. 764−769.
- Casula, M. Italian Melanoma Intergroup Study. BRAF gene is somaticallymutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study / M. Casula, M.
- Colombino, M.P. Satta et al. // J. Clin. Oncol. 2004. — Vol. 22. — P. 286 292.
- Casula, M. The susceptibility CDKN2 locus may have a role on prognosis of melanoma patients / M. Casula, M. Budroni, A. Cossu et al. // Ann. Oncol. -2010.-Vol. 21.-P. 1379−80.
- Chin, L. Malignant melanoma: modern black plague and genetic black box /
- Chin, G. Merlino, R.A. DePinho // Genes Dev. 1998. — Vol. 12. — P. 3467−3481.
- Clark, W.H. Jr. The histogenesis and biologic behavior of primary human malignant melanomas of the skin / W.H. Jr. Clark, L. From, E.A. Bernardino et al. // Cancer Res. 1969. — Vol. 29. — P. 705−727.
- Cohen, C. Mitogen-actived protein kinase activation is an early event inmelanoma progression / C. Cohen, A. Zavala-Pompa, J.H. Sequeira et al. // Clin. Cancer Res. 2002. — Vol. 8. — P. 3728−3733.
- Conway, C. Deletion at chromosome arm 9p in relation to BRAF/NRASmutations and prognostic significance for primary melanoma / C. Conway, S. Beswick, F. Elliott et al. // Genes Chromosomes Cancer. 2010. — Vol. 49.-P. 425−438.
- Cruz, F. 3rd. Absence of BRAF and NRAS Mutations in Uveal Melanoma /
- F. 3rd Cruz, B.P. Rubin, D. Wilson et al. // Cancer Res. 2003. — Vol. 63. -P. 5761−5766.
- Curtin, J.A. Distinct sets of genetic alterations in melanoma / J. A. Curtin, J.
- Fridlyand, T. Kageshita et al. // N. Engl. J. Med. 2005. — Vol. 353. — P. 2135−2147.
- Curtin, J.A. PI3-kinase subunits are infrequent somatic targets in melanoma /
- J. A. Curtin, M.S. Stark, D. Pinkel et al. // J. Invest. Dermatol. 2006. — Vol. 126.-P. 1660−1663.
- Curtin, J.A. Somatic activation of KIT in distinct subtypes of melanoma /
- J.A. Curtin, K. Busang D. Pinkel et al. // J. Clin. Oncol. 2006. — Vol. 24. -P. 4340−4346.
- Dai, D.L. Prognostic significance of activated Akt expression in melanoma: aclinicopathologic study of 292 cases / D.L. Dai, M. Martinka, G. Li // J. Clin. Oncol. 2005. — Vol. 23. — P. 1473−1482.
- Datta, S.R. Akt phosphorylation of BAD couples survival signals to the cellintrinsic death machinery / S.R. Datta, H. Dudek, X. Tao et al. // Cell. -1997.-Vol. 91.-P. 231−241.
- Davies, H. Mutations of the BRAF gene in human cancer / H. Davies, G.R.
- Bignell, C. Cox et al. // Nature. 2002. — Vol. 417. — P. 949−954.
- Davies, M.A. Adenoviral transgene expression of MMAC/PTEN in humanglioma cells inhibits Akt activation and induces anoikis / M.A. Davies, Y. Lu, T. Sano et al. // Cancer Res. 1998. — Vol. 58. — P. 5285−5290.
- Davies, M.A. Analysis of the genome to personalize therapy for melanoma /
- M.A. Davies, Y. Samuels // Oncogene. 2010. — Vol. 29. — P. 5545−5555.
- Davies, M.A. A novel AKT3 mutation in melanoma tumours and cell lines /
- M.A. Davies, K. Stemke-Hale, C. Tellez et al. // Br. J. Cancer. 2008. -Vol. 99.-P. 1265−1268.
- Demirel, D. Ovarian tumors of low malignant potential. Correlation of DNAindex and S-phase fraction with histopathologic grade and clinical outcome / D. Demirel, R. Laucirica, A. Fishman et al. // Cancer. 1996.- Vol. 77. -P. 1494−1500.
- Demunter, A. Analysis of N- and K-ras mutations in the distinctive tumorprogression phases of melanoma / A. Demunter, M. Stas, H. Degreef et al. // J. Invest. Dermatol.-2001.-Vol. 117.-P. 1483−1489.
- Denat, L. Malignant melanoma and the role of the paradoxal proteinmicrophthalmia transcription factor / L. Denat, L. Larue // Bull Cancer. -2007.-Vol. 94.-P. 81−92.
- Doubrovsky, A. Enhanced survival in patients with multiple primarymelanoma / A. Doubrovsky, S.W. Menzies // Arch. Dermatol. 2003. -Vol. 139.-P. 1013−1018.
- Downward, J. Targeting RAS signalling pathways in cancer therapy / J.
- Downward // Nat. Rev. Cancer. 2003. — Vol. 3. — P. 11−22.
- Duchateau, C.S. Second primary tumors involving non-small cell Tungcancer: prevalence and its influence on survival / C.S. Duchateau, M.P. Stokkel//Chest.-2005.-Vol. 127.-P. 1152−1158.
- Dyson, N. Oncogenes and cell proliferation / N. Dyson, A. Balmain // Curr.
- Opin. Genet. Dev. 1999. — Vol. 9. — P. 11−14.
- Elder, D.E. Neoplastic progression and prognosis in melanoma / D.E. Elder,
- P. Van Belle, R. Elenitsas et al. // Semin. Cutan. Med. Surg. 1996. — Vol. 15.-P. 336−348.
- Engelman, J.A. The evolution of phosphatidylinositol 3-kinases as regulatorsof growth and metabolism / J.A. Engelman, J. Luo, L.C. Cantley //. Nat. Rev. Genet. 2006. — Vol. 7. — P. 606−619.
- Engelman, J.A. Targeting PI3K signalling in cancer: opportunities, challenges and limitations / J.A. Engelman // Nat. Rev. Cancer. 2009. -Vol. 9.-P. 550−562.
- Everson, T.C. Spontaneous regression of malignant disease / T.C. Everson,
- W.H. Cole//J. Am. Med. Assoc. 1959. — Vol. 169.-P. 1758−1759.
- Eychene, A. Chromosomal assignment of two human B-raf (Rmil) protooncogene loci: B-raf-1 encoding the p94Braf/Rmil and B-raf-2, a processed pseudogene / A. Eychene, J.V. Barnier, F. Apiou et al. // Oncogene. 1992. -Vol. 7.-P. 1657−1660.
- Fecher, L.A. Toward a molecular classification of melanoma / L.A. Fecher,
- S.D. Cummings, M.J. Keefe et al. // J. Clin. Oncol. 2007. — Vol. 25. — P. 1606−1620.
- Flaherty, K.T. Inhibition of mutated, activated BRAF in metastatic melanoma
- K.T. Flaherty, I. Puzanov, K.B. Kim et al. // N. Engl. J. Med. 2010. -Vol. 363.-P. 809−819.
- Garbe, C. Melanoma epidemiology and trends / C. Garbe, U. Leiter // Clin.
- Dermatol. 2009. — Vol. 27. — P. 3−9.
- Garraway, L.A. Integrative genomic analyses identify MITF as a lineagesurvival oncogene amplified in malignant melanoma'/ L.A. Garraway, H.R. Widlund, M.A. Rubin et al. // Nature. 2005. — Vol. 436. — P. 117−122.
- Gershenwald, J.E. American Joint Committee on Cancer (AJCC) Melanoma
- Staging Committee. 2010 TNM staging system for cutaneous melanoma. and beyond / J.E. Gershenwald, S.J. Soong, C.M. Balch // Ann. Surg. Oncol.-2010.-Vol. 17.-P. 1475−1477.
- Goel, V.K. Examination of mutations in BRAF, NRAS, and PTEN inprimary cutaneous melanoma / V.K. Goel, A.J. Lazar, C.L. Warneke et al. // J. Invest. Dermatol. 2006. — Vol. 126. — P. 154−160.
- Gogas, H. Biomarkers in melanoma / H. Gogas, A.M. Eggermont, A.
- Hauschild et al. // Ann. Oncol. 2009. — Vol. 20. — P. 8−13.
- Goldstein, A.M. Familial melanoma, pancreatic cancer and germline
- CDKN2A mutations / A.M. Goldstein // Hum. Mutat. 2004. — Vol. 23. — P. 630.
- Goldstein, A.M. Features associated with germline CDKN2A mutations: a
- GenoMEL study of melanoma-prone families from three continents / A.M. Goldstein, M. Chan, M. Harland et al. // J. Med. Genet. 2007. — Vol. 44. -P. 99−106.
- Goldstein, A.M. Genetic epidemiology of cutaneous melanoma: a globalperspective / A.M. Goldstein, M.A. Tucker // Archives of Dermatology. -2001.-Vol. 137.-P. 1493−1496.
- Goldstein, A.M. Genotype-phenotype relationships in U.S. melanoma-pronefamilies with CDKN2A and CDK4 mutations / A.M. Goldstein, J.P. Struewing, A. Chidambaram et al. // J. Natl. Cancer Inst. 2000. — Vol. 92. -P. 1006−1010.
- Goldstein, A.M. Rarity of CDK4 germline mutations in familial melanoma /
- A.M. Goldstein, A. Chidambaram, A. Halpern et al. // Melanoma research. -2002.-Vol. 12.-P. 51−55.
- Goppner, D. Sentinel lymph node biopsy status is a key parameter to stratifythe prognostic heterogeneity of malignant melanoma in high-risk tumors >4.0 mm / D. Goppner, J. Ulrich, A. Pokrywka et al. // Dermatology. -2011.-Vol. 222.-P. 59−66.
- Gorden, A. Analysis of BRAF and N-RAS mutations in metastatic melanomatissues / A. Gorden, I. Osman, W. Gai et al. // Cancer Res. 2003. — Vol. 63.-P. 3955−3957.
- Govindarajan, B. Overexpression of Akt converts radial growth melanoma tovertical growth melanoma / B. Govindarajan, J.E. Sligh, B J. Vincent et al. // J. Clin. Invest. 2007. — Vol. 117. — P. 719−729.
- Grafstrom, E. Biallelic deletions in INK4 in cutaneous melanoma arecommon and associated with decreased survival / E. Grafstrom, S. Egyhazi, U. Ringborg et al. // Clin. Cancer Res. 2005. — Vol. .11. — P. 2991−2997.
- Gray-Schopfer, V. Melanoma biology and new targeted therapy / V. Gray
- Schopfer, C. Wellbrock, R. Marais // Nature. 2007. — Vol. 445. — P. 851 857.
- Hall, A. Identification of transforming gene in two human sarcoma cell linesas a new member of the ras gene family located on chromosome 1 / A. Hall, C.J. Marshall, N.K. Spurr et al. //Nature. 1983. -Vol. 303.-P. 396−400.
- Haluska, F.G. Genetic Alterations in Signaling Pathways in Melanoma / F.G.
- Haluska, H. Tsao, H. Wu et al. // Clin. Cancer Res. 2006. — Vol. 12, — P. 2301−2307.
- Hansson, J. Familial cutaneous melanoma / J. Hansson // Adv. Exp. Med.
- Biol. 2010. — Vol. 685 — P. 134−145.
- Harland, M. Mutation screening of the CDKN2A promoter in melanomafamilies / M. Harland, E.A. Holland, P. Ghiorzo et al. // Genes Chromosomes Cancer. 2000. — Vol. 28. — P. 45−57.
- Hashemi, J. CDKN2A germ-line mutations in individuals with multiplecutaneous melanomas / J. Hashemi, A. Platz, T. Ueno et al. // Cancer Res. -2000. Vol. 60. — P. 6864−6867.
- Hayward, N.K. Genetics of melanoma predisposition / N.K. Hayward //
- Oncogene. 2003. — Vol. 22 — P. 3053−3062.
- Heidorn, S.J. Kinase-dead BRAF and oncogenic RAS cooperate to drivetumor progression through CRAF / S.J. Heidorn, C. Milagre, S. Whittaker et al. // Cell. 2010. — Vol. 140. — P. 209−221.
- Herman, J.G. Inactivation of the CDKN2A/pl6/MTSl gene is frequentlyassociated with aberrant DNA mathylation in all common human cancers / J.G. Herman, A. Merlo, L. Mao et al. // Cancer research. 1995. — Vol. 55. -P. 4525−4530.
- High, W. Genetic mutations involved in melanoma: a summary of our current understanding / W. High, W. Robinson // Adv. Dermatol. 2007. -Vol. 23. -P. 61−79.
- Houben, R. Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis / R. Houben, J.C. Becker, A. Kappel et al. // J. Carcinog. 2004. — Vol. 3. — P. 6.
- Hutchinson, P.E. Vitamin D receptor polymorphisms are associated withaltered prognosis in patients with malignant melanoma / P.E. Hutchinson, J.E. Osborne, J.T. Lear et al. // Clin. Cancer Res. 2000. — Vol. 6. — P. 498 504.
- James, C.R. BRCA1, a potential predictive biomarker in the treatment ofbreast cancer / C.R. James, J.E. Quinn, P.B. Mullan et al. // Oncologist. -2007.-Vol. 12.-P. 142−150.
- James, M.R. BRAF polymorphisms and risk of melanocytic neoplasia / M.R.
- James, R.B. Roth, M.M. Shi et al. // J. Invest. Dermat.ol. 2005. — Vol. 125. -P. 1252−1258.
- James, M.R. Rapid screening of 4000 individuals for germ-line variations inthe BRAF gene / M.R. James, T. Dumeni, M.S. Stark et al. // Clin. Chem. -2006.-Vol. 52.-P. 1675−1678.
- Janku, F. PIK3CA mutations frequently coexist with RAS and BRAFmutations in patients with advanced cancers / F. Janku, J.J. Lee, A.M. Tsimberidou et al. // PLoS One. 2011. — Vol. 6. — P. 22 769.
- Janku, F. KIT receptor is expressed in more than 50% of early-stage malignant melanoma: a retrospective study of 261 patients / F. Janku, J. Novotny, I. Julis et al. // Melanoma Res. 2005. — Vol. 15. — P. 251−256.
- Jovanovic, B. Lack of cytoplasmic ERK activation is an independent adverse prognostic factor in primary cutaneous melanoma / B. Jovanovic, D. Krockel, D. Linden et al. // J. Invest. Dermatol. 2008. — Vol. 128. — P. 2696−2704.
- Kalady, M.F. Thin melanomas: predictive lethal characteristics from a 30-year clinical experience / M.F. Kalady, R.R. White, J.L. Johnson et al. // Ann. Surg. 2003. — Vol. 238. — P. 528−535.
- Kanetsky, P.A. Interaction of glutathione S-transferase Ml and T1 genotypes and malignant melanoma / P.A. Kanetsky, R. Holmes, A. Walker et al. // Cancer Epidemiol. Biomarkers Prev. 2001. — Vol. 10. — P. 509 513.
- Karbowniczek, M. mTOR is activated in the majority of malignant melanomas / M. Karbowniczek, C.S. Spittle, T. Morrison et al. // J. Invest. Dermatol. 2008. — Vol. 128. — P. 980−987.
- Kefford, R. Is there a role for genetic testing in patients with melanoma / R. Kefford, G. Mann // Curr. Opin. Oncol. 2003. — Vol. 15. — P. 157−161.
- Kennedy, R.D. The role of BRCA1 in the cellular response to chemotherapy / R.D. Kennedy, J.E. Quinn, P.B. Mullan et al. // J. Natl. Cancer Inst. -2004.-Vol. 96.-P. 1659−1668.
- Ko, J.M. A new era: melanoma genetics and therapeutics / J.M. Ko, D.E. Fisher // J. Pathol. 2011. — Vol. 223. — P. 241−50.
- Koh, J. Tumor-derived pl6 alleles encoding protein defective in cell-pycle inhibition / J. Koh, G.H. Enders, B.D. Cynlacht et al. // Nature. 1995. -Vol. 375.-P. 506−510:
- Kong, Y. Molecular pathogenesis of sporadic melanoma and melanoma-initiating cells / Y. Kong, S.M. Kumar, X. Xu // Arch. Pathol. Lab. Med. -2010.-Vol. 134.-P. 1740−1749.
- Kopf, A.W. Familial malignant melanoma / A.W. Kopf, L.J. Hellman, G.S. Rogers etal. //JAMA. 1986.-Vol. 256-P. 1915−1919.
- Kraemer, K.H. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm / K.H. Kraemer, M.M. Lee, A.D. Andrews et al. // Arch. Dermatol. 1994. — Vol. 130.-P. 1018−1021.
- Kumar, R. BRAF mutations in metastatic melanoma: a possible association with clinical outcome / R. Kumar, S. Angelini, K. Czene et al. // Clin. Cancer Res. 2003. — Vol. 9. — P. 3362−3368.
- Laennec, R.T.H. Sur les melanoses / R.T.H. Laennec // Bulletin de Faculte de Medecine Paris. 1806. — P. 1−24.
- Lang, J. Prevalence of exon 15 BRAF mutations in primary melanoma of the superficial spreading, nodular, acral, and lentigo maligna subtypes / J. Lang, R.M. MacKie // J. Invest. Dermatol. 2005. — Vol. 125. — P. 575−579.
- Laud, K. French Herediatary Melanoma Study Group. BRAF as a melanoma susceptibility candidate gene? / K. Laud, C. Kannengiesser, M.F. Avril et al. // Cancer Res. 2003. -Vol. 63. — P. 3061−3065.
- Levy, C. MITF: master regulator of melanocyte development and melanoma oncogene / C. Levy, M. Khaled, D.E. Fisher // Trends Mol. Med. 2006. -Vol. 12.-P. 406114.
- Liu, L. Mutation of the CDKN2A 59 UTR creates an aberrant initiation codon and predisposes to melanoma / L. Liu, D. Dilworth, L. Gao et al. // Nat. Genet. 1999. — Vol. 21. — P. 128−132.
- Liu, P. Targeting the phosphoinositide 3-kinase pathway in cancer / P. Liu, H. Cheng, T.M. Roberts et al. // Nat. Rev. Drug Discov. 2009. — Vol. 8. -P. 627−644.
- Liu, W. Distinct clinical and pathological features are associated with the BRAF (T1799A (V600E)) mutation in primary melanoma / W. Liu, J.W. Kelly, M. Trivett et al. // J. Invest. Dermatol. 2007. — Vol. 127. — P. 900 905.
- Loercher, A.E. MITF links differentiation with' cell cycle arrest in melanocytes by transcriptional activation of INK4A / A.E. Loercher, E.M. Tank, R.B. Delston et al. // J. Cell Biol. 2005. — Vol. 168. — P. 35−40.
- Lukas, J. Retino-blastoma-protein-dependent cell-cycle ingibition by the tumor suppressor pl6 / J. Lukas, D. Parry, L., Aagaard et al. // Nature. -1995.-Vol. 375.-P. 503−506.
- Lynch, H.T. Xeroderma pigmentosum. Complementation group C and malignant melanoma / H.T. Lynch, R.M. Fusaro, J.A. Johnson // Arch. Dermatol. 1984.-Vol. 120.-P. 175−179.
- Maldonado, J.L. Determinants of BRAF mutations in primary melanomas / J.L. Maldonado, J. Fridlyand, H. Patel et al. // J. Natl. Cancer Inst. 2003. -Vol. 95.-P. 1878−1890.
- Marquette, A. Recent discoveries in the genetics of melanoma and their therapeutic implications / A. Marquette, M. Bagot, A. Bensussan et al. // Arch. Immunol. Ther. Exp. (Warsz). 2007. — Vol. 55. — P. 363−372.
- Marshall, C.J. A transforming gene present in human sarcoma cell lines / C.J. Marshall, A. Hall, R.A. Weiss // Nature. 1982. — Vol. 299. — Vol. 171−173.
- Masback, A. Prognostic factors in invasive cutaneous malignant melanoma: a population-based study and review / A. Masback, H. Olsson, J. Westerdahl et al. //Melanoma Res. 2001. — Vol. 11. — P. 435−445.
- Meyer, P. Polymorphisms of the BRAF gene predispose males to malignant melanoma / P. Meyer, C. Sergi, C. Garbe // J. Carcinog. 2003. — Vol. 2. -P. 7.
- Monzon, J. CDKN2A mutations in multiple primary melanomas / J. Monzon, L. Liu, H. Brill et al. // N. Engl. J. Med. 1998. — Vol. 338. — P. 879−887.
- Murphy, J.A. The CDKN2A Database: Integrating Allelic Variants With Evolution, Structure, Function, and Disease Association / J.A. Murphy, R. Barrantes-Reynolds, R. Kocherlakota et al. // Hum. Mutat. 2004. — Vol. 24.-P. 296−304.
- Nicholson, K.M. The protein kinase B/Akt signalling pathway in human malignancy / K.M. Nicholson, N.G. Anderson // Cell Signal. 2002. — Vol. 14.-P. 381−395.
- Norris W. A case of fungoid disease / Norris W. // Edinb. Med. Surg. J. -1820.-Vol. 16-P. 562−565.
- Omholt, K. Mutations of PIK3CA are rare in cutaneous melanoma / K. Omholt, D. Krockel, U. Ringborg et al. // Melanoma Res. 2006. — Vol. 16. -P. 197−200.
- Ostmeier, H. Can immunohistochemical markers and mitotic rate improve prognostic precision in patients with primary melanoma? / H. Ostmeier, B. Fuchs, F. Otto et al. // Cancer. 1999. — Vol. 85. — P. 2391−2399.
- Pacheco, I. Towards new therapeutic approaches for malignant melanoma / I. Pacheco, C. Buzea, V. Tron // Expert. Rev. Mol. Med. 2011. — Vol. 13. -P. 33.
- Palmer, J.S. Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? / J.S. Palmer, D.L. Duffy, N.F. Box et al. // Am. J. Hum. Genet. 2000. — Vol. 66.-P. 176−186.
- Palmieri, G. Issues affecting molecular staging in the management of patients with melanoma / G. Palmieri, M. Casula, M.C. Sini et al. // J. Cell Mol. Med.-2007.-Vol. 11.-P. 1052−1068.
- Papac, R.J. Spontaneous regression of cancer: possible mechanisms / R.J. Papac // In Vivo. 1998. — Vol. 12. — P. 571−578.
- Paredes, B.E. Regression in malignant melanoma. Definition, etiopathogenesis, morphology and differential diagnosis / B.E. Paredes // Pathologe. 2007. — Vol. 28. — P. 453−463.
- Peric, B. Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families / B. Peric, P. Cerkovnik, S. Novakovic, et al. // BMC Med. Genet. 2008. — Vol. 9. — P. 86.
- Pollock, P.M. High frequency of BRAF mutations in nevi / P.M. Pollock, U.L. Harper, K.S. Hansen et al. // Nat. Genet. 2003. — Vol. 33. — P. 1920.
- Puig, S. Role of the CDKN2A Locus in patients with multiple primary melanomas / S. Puig, J. Malvehy, C. Badenas // J. Clin. Oncol. 2005. -Vol. 23.-P. 3043−3051.
- Rastetter, M. Frequent intra-tumoural heterogeneity of promoter hypermethylation in malignant melanoma / M. Rastetter, U. Schagdarsurengin, C. Lahtz et al. // Histol. Histopathol. 2007. — Vol. 22. -P. 1005−1015.
- Reifenberger, J. Frequent alterations of Ras signaling pathway genes in sporadic malignant melanomas / J. Reifenberger, C.B. Knobbe, A.A. Sterzinger et al. // Int. J. Cancer. 2004. — Vol. 109. — P. 377−384.
- Rieder, H. Familial pancreatic cancer / H. Rieder, .D.K. Bartsch // Fam. Cancer. 2004. — Vol. 3 — P. 69−74.
- Rodenhuis, S. Mutational activation of the K-ras oncogene. A possible pathogenetic factor in adenocarcinoma of the lung / S. Rodenhuis, M.L. van de Wetering, W.J. Mooi et al. // N. Engl. J. Med. 1987. — Vol. 317. — P. 929−935.
- Rodriguez-Viciana, P. Germline mutations in genes within the MAPK pathway cause Cardio-facio-cutaneous syndrome / P. Rodriguez-Viciana, O. Tetsu, W. Tidyman et al. // Science. 2006. — Vol. 311. — P. 1287−1290.
- Rodriguez-Viciana, P. Phosphatidylinositol-3-OH kinase as a direct target of Ras / P. Rodriguez-Viciana, P.H. Warne, R. Dhand et al. // Nature. -1994. Vol. 370. — P. 527−532.
- Romashkova, J.A. NF-kB is a target of AKT in antiapoptotic PDGF signalling / J.A. Romashkova, S.S. Makarov // Nature. 1999. — Vol. 401. -P. 86−90.
- Rosenberg, S.A. Progress in human tumour immunology and immunotherapy / S.A. Rosenberg // Nature. 2001. — Vol. 411. — P. 380 145
- Rothberg, B.E.G. Melanoma prognostic model using tissue microarrays and genetic algorithms / B.E.G. Rothberg, A.J. Berger, A.M. Molinaro et al. // J. Clin. Oncol. 2009. — Vol. 27. — P. 5772−5780.
- Rothberg, B.E.G. Tissue biomarkers for prognosis in cutaneous melanoma: a systematic review and meta-analysis / B.E.G. Rothberg, M.B. Bracken, D.L. Rimm // J. Natl. Cancer Inst. 2009. — Vol. 101. — P. 452−474.
- Russo, A.A. Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumour suppressor pl6INK4a. / A.A. Russo, L. Tong, J.O. Lee et al. //Nature. 1998. — Vol. 395. — P. 237−243.
- Russo, A.E. Melanoma: molecular pathogenesis and emerging target therapies review. / A.E. Russo, E. Torrisi, Y. Bevelacqua et al. // Int. J. Oncol. 2009. — Vol. 34. — P. 1481−1489.
- Rutter, J.L. CDKN2A point mutations D153spl (c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both pl6INK4a and pl4ARF / J.L. Rutter, A.M. Goldstein, M.R. Davila et al. // Oncogene. -2003. Vol. 22. — P. 4444−4448.
- Scolyer, R.A. Interobserver reproducibility of histopathologic prognostic variables in primary cutaneous melanomas / R.A. Scolyer, H.M. Shaw, J.F. Thompson et al. // Am. J. Surg. Pathol. 2003. — Vol. 27. — P. 1571−1576.
- Serrano, M. Role of the INK4a locus in tumor suppression and cell mortality / M. Serrano, H. Lee, L. Chin et al. // Cell. 1996. — Vol. 85. — P. 27−37.
- Shahbazi, M. Association between functional polymorphism in EGF gene and malignant melanoma / M. Shahbazi, V. Pravica, N. Nasreen // Lancet. -2002. Vol. 359. — P. 397−401.
- Sharpless, E. The INK4a/ARF locus and melanoma / E. Sharpless, L. Chin I I Oncogene. 2003. — Vol. 22. — P. 3092−3098.
- Shinozaki, M. Incidence of BRAF oncogene mutation and clinical relevance for primary cutaneous melanomas / M. Shinozaki, A. Fujimoto, D.L. Morton et al. // Clin. Cancer Res. 2004. — Vol. 10. — P. 1753−1757.
- Shinozaki, M. Utility of circulating B-RAF DNA mutation in serum for monitoring melanoma patients receiving biochemotherapy / M. Shinozaki, S.J. O’Day, M. Kitago et al. // Clin. Cancer Res. -'2007. Vol. 13. — P. 2068−2074.
- Slipicevic, A. Expression of activated akt and PTEN in malignant melanomas: relationship with clinical outcome / A. Slipicevic, R. Holm, M.T. Nguyen et al. // Am. J. Clin. Pathol. 2005. — Vol. 124. — P. 528−536.
- Somoano B. Hereditary cancer syndromes of the skin / B. Somoano, K.B. Niendorf, H. Tsao // Clin. Dermatol. 2005. — Vol. 23. — P. 85−106.
- Soufir, N. The INK4a-ARF locus: role in the genetic predisposition to familial melanoma and in skin carcinogenesis / N. Soufir, N. Basset-Seguin //Bull Cancer.-2001.-Vol. 88.-P. 1061−1067.
- Stahl, J.M. Deregulated Akt3 activity promotes development of malignant melanoma / J.M. Stahl, A. Sharma, M. Cheung et al. // Cancer Res. 2004. -Vol. 64.-P. 7002−7010.
- Stahl, J.M. Loss of PTEN promotes tumor development in malignant melanoma / J.M. Stahl, M. Cheung, A. Sharma et al: // Cancer Res. 2003. -Vol. 63.-P. 2881−2890.
- Straume, O. Significant impact of promoter hypermethylation and the 540 C>T polymorphism of CDKN2A in cutaneous melanoma of the vertical growth phase / O. Straume, J. Smeds, R. Kumar et al. // Am. J. Pathol. -2002.-Vol. 161.-P. 229−237.
- Thompson, J.F. Cutaneous melanoma / J.F. Thompson, R.A. Scolyer, R.F. Kefford // Lancet. 2005. — Vol. 365. — P. 687−701.
- Tsao, H. Identification of PTEN/MMAC1 alterations in uncultured melanomas and melanoma cell lines / H. Tsao, X. Zhang, E. Benoit et al. // Oncogene. 1998.-Vol. 16.-P. 3397−3402.
- Tsao, H. Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma / H. Tsao, V. Goel, H. Wu et al. // J. Invest. Dermatol. 2004. — Vol. 122. — P. 337−341.
- Tsao, H. Management of cutaneous melanoma /H. Tsao, M.B. Atkins, A.J. Sober // N. Engl. J. Med. 2004. — Vol. 351. — P. 998−1012.
- Tucker, M.A. Melanoma etiology: where are we? / M.A. Tucker, A.M. Goldstein // Oncogene. 2003. — Vol. 22. — P. 3042−3052.
- Ugurel, S. B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis / S. Ugurel, R.K. Thirumaran, S. Bloethner et al. // PLoS One. 2007. — Vol. 2. — P. 236.
- Urosevic, J. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome / J. Urosevic, V. Sauzeau, M.L. Soto-Montenegro et al. // Proc. Natl. Acad. Sci. U.S.A. -2011.-Vol. 108.-P. 5015−5020.
- Urteaga, O. On the antiquity of melanoma / O. Urteaga, G.T. Pack // Cancer.- 1966.-Vol. 19.-P. 607−610.
- Vandenbark, G.R. Cloning and structural analysis of the human c-kit gene / G.R. Vandenbark, C.M. deCastro, H. Taylor et al. // Oncogene. 1992. -Vol. 7.-P. 1259−1266.
- Venugopal, B. Coexistent malignant melanoma and renal cell carcinoma / B. Venugopal, T.R. Evans // Tumori. 2009. — Vol. 95. — P. 518−520.
- Vivanco, I. The phosphatidylinositol 3-Kinase AKT pathway in human cancer /1. Vivanco, C.L. Sawyers // Nat. Rev. Cancer. 2002. — Vol. 2. — P. 489−501.
- Wan, P.T.C. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF / P.T.C. Wan, M.J. Garnett, S.M. Roe et al. // Cell. 2004. — Vol. 116. — P. 855−867.
- Webster, J.D. Evaluation of the kinase domain of c-KIT in canine cutaneous mast cell tumors / J.D. Webster, M. Kiupel, V. Yuzbasiyan-Gurkan // BMC Cancer. 2006. — Vol. 6. — P. 85.
- Whiteman, D.C. Melanocytic nevi, solar keratoses, and divergent pathways to cutaneous melanoma / D.C. Whiteman, P. Watt, D.M. Purdie et al. // J. Natl. Cancer Inst.-2003.-Vol. 95.-P. 806−812.
- Whitwam, T. Differential oncogenic potential of activated RAS isoforms in melanocytes / T. Whitwam, M.W. Vanbrocklin, M.E. Russo et al. // Oncogene. 2007. — Vol. 26. — P. 4563−4570.
- Widlund, H.R. Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival / H.R. Widlund, D.E. Fisher // Oncogene. 2003. — Vol. 22. — P. 3035−3041.
- Willmore-Payne, C. BRAF and c-kit gene copy number in mutation-positive malignant melanoma / C. Willmore-Payne, J.A. Holden, S. Hirschowitz et al. // Hum. Pathol. 2006. — Vol. 37. — P. 520−527.
- Willmore-Payne, C. Human malignant melanoma: Detection of BRAF- and c-kit-activating mutations by high-resolution amplicon melting analysis / C. Willmore-Payne, J.A. Holden, S. Tripp et al. // Hum. Pathol. 2005. — Vol. 36.-P. 486−493.
- Woodman, S.E. New strategies in melanoma: molecular testing in advanced disease / S.E. Woodman, AJ. Lazar, K.D. Aldape et al. // Clin. Cancer Res. -2012.-Vol. 18. -P. 1195−200.
- Wu, H. PTEN signaling pathways in melanoma / H. Wu, V. Goel, F.G. Haluska // Oncogene. 2003. — Vol. 22. — P. 3113−3122.
- Yancovitz, M. Intra- and inter-tumor heterogeneity of BRAF (V600E))mutations in primary and metastatic melanoma / M. Yancovitz, A. Litterman, J. Yoon et al. // PLoS One. 2012. — Vol. 7. — P. 29 336.
- Zettersten, E. Prognostic factors in patients with thick cutaneous melanoma (> 4 mm) / E. Zettersten, R.W. Sagebiel, J.R. 3rd Miller et al. // Cancer. -2002.-Vol. 94.-P. 1049−1056.
- Zhou, J. A 115-bp MethyLight assay for detection of pl6 (CDKN2A) methylation as a diagnostic biomarker in human tissues / J. Zhou, J. Cao, Z. Lu et al. // BMC Med. Genet. 2011. — Vol. 12. — P. 67.
- Zhou, X.P. Epigenetic PTEN silencing in malignant melanomas without PTEN mutation / X.P. Zhou, O. Gimm, H. Hampel et al. // Am. J. Pathol. -2000.-Vol. 157.-P. 1123−1128