МОЛЕКУЛЯРНО-ГЕНЕТИЧНІ ЗАСАДИ КЛІНІЧНОЇ ГЕТЕРОГЕННОСТІ РАКУ МОЛОЧНОЇ ЗАЛОЗИ (огляд літератури)
Ключові слова:
рак молочної залози, генетична компонента, молекулярно-генетичні зміни, молекулярні підтипи, металовмісні протеїни, фенотип, внутрішньопухлинна гетерогенність.Анотація
В огляді узагальнено інформацію про генетичні та молекулярно-біологічні
зміни на рівні пухлини та організму при раку молочної залози (РМЗ) і клінічну гетерогенність цього захворювання. Показано сучасні вектори досліджень щодо діагностики та прогнозу РМЗ, які базуються на даних фундаментальних досягнень згенетики та молекулярної біології. Розглядаються
наступні питання: молекулярно-генетична класифікація РМЗ як підсумок
вивчення гетерогенності пухлин за молекулярно-біологічними характеристиками; внесок генетичної компоненти у клінічну гетерогенність РМЗ; обґрунтування генетичного походження внутрішньопухлинної морфологічної
гетерогенності РМЗ; металовмісні протеїни: властивості, що зумовлюють вплив на особливості перебігу пухлинного процесу
Посилання
Siegel R, Naishadham D, Jemal A. Cancer statistics. CA: Cancer J Clin 2013; 63 (11): 1.
Parkin DM, Bray F, Ferlay J, Pisani P. Glob 23al cancer statistics. CA: Cancer J Clin 2005; 55: 74–108.
Quinn M, Wood H, Cooper N, et al. Cancer atlas of the United Kingdom and Ireland 1991–2000. London: ONS; 2005. 68 p.
Рак в Україні, 2014–2015. Захворюваність, смертність, показники діяльності онкологічної служби. Бюл Нац канцерреєстру України. Київ 2016; (17).
Jemal A, Siegel R, Ward E. Cancer statistics. CA: Cancer J Clin 2008; 58 (2): 71–96.
Galea MH, Blamey RW, Elston CE. The Nottingham Prognostic Index in primary breast cancer. Breast Cancer Res Treat
; 22: 207–19.
Чехун ВФ, Шербан СД, Савцова ЗД. Гетерогенность опухоли— динамическое состояние. Онкология 2012; 14 (1): 4–12.
Lynch HT, Snyder C, Lynch J. Hereditary breast cancer: practical pursuit for clinical translation. Ann Surg Oncol 2012; 19 (6): 1723–31.
Lambertini M, Santoro L, Del Mastro L, et al. Reproductive behaviors and risk of developing breast cancer according to tumor subtype: A systematic review and meta-analysis of epidemiological studies. Cancer Treat Rev 2016; 49: 65–76.
Turkoz FP, Solak M, Petekkaya I, et al. Association between common risk factors and molecular subtypes in breast cancer patients. Breast 2013; 22 (3): 344–50.
Wilkinson JB, Shah C, Amin M, et al. Outcomes according to breast cancer subtype in patients treated with accelerated partial breast irradiation. Clin Breast Cancer 2017; 17 (1): 55–60.
Чехун ВФ, Шпилевая СИ. Роль эндогенного железа в формировании чувствительности опухоли к противоопухолевой терапии. Вопр онкол 2010; 56 (3): 251–61.
Perou CM, Sorlie T, Eisen MB, et al. Molecular portraits of human breast tumours. Nature 2000; 406 (6797): 747–52.
Senkus E, Kyriakides S, Penault-Llorca F, et al. Primary breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 2013; 24 (suppl 6): vi7–23.
Clinical guidelines on the prevention, diagnosis and treatment of breast cancer patients. Assotsiatsiya onkologov Rossii. Russian Association of Oncologists. ROSC Pub 2014; 1–46.
XVI Russian oncological congress (review of materials). Women Reproduction System Tumors 2012; (3–4): 6–7.
Pracella D, Bonin S, Barbazza R, et al. Are breast cancer molecular classes predictive of survival in atients with long followup? Dis Markers 2013; 35 (6): 595–605.
Prat A, Cheang MC, Mart NM, et al. Prognostic significance of progesterone receptor-positive tumor cells within immunohistochemically defined luminal A breast cancer. J Clin Oncol 2013; 31 (2): 203–9.
Kim HS, Park I, Cho HJ, et al. Analysis of the potent prognostic factors in luminal-type breast cancer. J Breast Cancer 2012; 15 (4): 401–6.
Cheang MC, Chia SK, Voduc D, et al. Ki67 index,
HER2 status, and prognosis of patients with luminal B breast cancer. J Natl Cancer Inst 2009; 101 (10): 736–50.
Wang Y, Yin Q, Yu Q, et al. A retrospective study of breast
cancer subtypes: the risk of relapse and the relations with treatments. Breast Cancer Res Treat 2011; 130 (2): 489–98.
Zhang HM, Zhang BN, Xuan LX, Zhao P. Clinical characteristics and survival in the operable breast cancer patients with different molecular subtypes. Zhonghua Zhong Liu Za Zhi 2009; 31 (6): 447–51.
Lips EH, Mulder L, Oonk, et al.Triple-negative breast cancer: BRCAness and concordance of clinical features with BRCA1- mutation carriers. Br J Cancer 2013; 108 (10): 2172–7.
Dent R, Trudeau M, Pritchard KI, et al. Triple-negative breast cancer: clinical features and patterns of recurrence. Clin Cancer Res 2007; 13: 4429–34.
Slamon DJ, Clark GM, Wong SG, et al. Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science 1987; 235 (4785): 177–82.
Zurawska U, Baribeau DA, Giilck, S et al. Outcomes of HER2-positive early-stage breast cancer in the trastuzumab era: a population-based study of canadian patients. Curr Oncol 2013; 20 (6): e539–45.
Slamon D, Eiermann W, Robert N, et al. Adjuvant trastuzumab in HER2-positive breast cancer. N Engl J Med 2011; 365:
–83.
Perez EA, Romond EH, Suman VJ, et al. Four-year follow-up of trastuzumab plus adjuvant chemotherapy for operable
human epidermal growth factor receptor 2-positive breast cancer: joint analysis of data from NCCTG N9831 and NSABP B-31. J Clin Oncol 2011; 29 (25): 3366–73.
Piccart-Gebhart MJ, Procter M, Leyland- Jones B, et al. Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer. N Engl J Med 2005; 353: 1659–72.
Romond EH, Perez EA, Bryant J, et al. Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. N Engl J Med 2005; 353: 1673–84.
Eroles P, Bosch A, Pérez-Fidalgo JA, Lluch A. Molecular biology in breast cancer: intrinsic subtypes and signaling pathways. Cancer Treat Rev 2012; 38: 698–707.
Curtis C, Shah SP, Chin SF, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 2012; 486: 346–52.
Cho N. Molecular subtypes and imaging phenotypes of breast cancer. Ultrasonography 2016; 35 (4): 281–8.
Li H, Zhu Y, Burnside ES, et al. MR Imaging radiomics signatures for predicting the risk of breast cancer recurrence as given by research versions of MammaPrint, Oncotype DX, and PAM50 Gene Assays. Radiology 2016; 281 (2): 382–91.
Lynch HT, Snyder C, Lynch J. Hereditary breast cancer: practical pursuit for clinical translation. Ann Surg Oncol 2012; 19 (6): 1723–31.
Любченко ЛН, Батенева ЕИ, Воротников ИК и др. Наследственный рак молочной железы: генетическая и клиническая гетерогенность, молекулярная диагностика, хирургическая профилактика в группах риска. Успехи мол онкол 2014; 2: 16–25.
Balmana J, Diez O, Rubio IT, et al. ESMO Clinical Practice Guidelines on BRCA in breast cancer includes chapters on
referral for BRCA testing, mutation detection, risk reduction options, breast cancer risk modifiers, and breast cancer treatment in BRCA carriers. Ann Oncol 2011; 22 (6): vi31–4.
Walsh T, Casadei S, Coats KH, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2 and TP53 in families at high risk of breast cancer. JAMA 2006; 295 (12): 1379–88.
Deng CX, Wang RH. Roles of BRCA1 in DNA damage repair: a link between development and cancer. Hum Mol Genet 2003; 12 (1): R113–23.
Sankaran S, Starita LM, Simons AM, et al. Identification
of domains of BRCA1 critical for the ubiquitin-dependent inhibition of centrosome function. Cancer Res 2006; 66 (8): 4100–7.
Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2
mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003; 72 (5): 1117–30.
Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
Am J Hum Genet 1998; 62 (3): 676–89.
McLaughlin JR, Risch HA, Lubinski J, et al.; Hereditary Ovarian Cancer Clinical Study Group. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a casecontrol study. Lancet Oncol 2007; 8 (1): 26–34.
Chenevix-Trench G, Milne RL, Antoniou AC. An international initiative to identify genetic modifiers of cancer risk in
BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast
Cancer Res 2007; 9 (2): 104–9.
Johnson N, Fletcher O, Palles C, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet 2007; 16 (9): 1051–7.
Baynes C, Healey CS, Pooley KA, et al.; SEARCH breast cancer study. Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. Breast Cancer Res 2007; 9 (2): R27.
Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447 (7148): 1087–93.
Сытенкова КВ. Клинические особенности различныхгенотипических вариантов при наследственном и спорадическом раке молочной железы. [Автореф дис... канд. мед. наук]. М., 2012.
Bartel DP. MicroRNAs: target recognition and regulatory functions. Cell 2009; 136 (2): 215–33.
Iorio MV, Croce CM. MicroRNAs in cancer: small molecules with a huge impact. J Clin Oncol 2009; 27 (34): 5848–56.
Farazi TA, Hoell JI, Morozov P, Tuschl T. MicroRNAs in human cancer. Adv Exp Med Biol 2013; 774: 1–20.
Поспехова НИ, Поярков СИ, Зенит-Журавлёва ЕГ и др. Экспрессионный анализ микроРНК для диагностики и прогноза рака молочной железы. Злокач опухоли 2012; 2: 91–8.
Weigelt B, Geyer FC, Reis-Filho JS. Histological types of breast cancer: how special are they? Mol Oncol 2010; 4 (3): 192–208.
Завьялова МВ, Перельмутер ВМ, Слонимская ЕМ и др. Сопряженность лимфогенного метастазирования и гистологического строения инфильтративного компонента протокового рака молочной железы. Сиб Онкол Журн 2006; 1: 32–5.
Zavyalova MV, Perelmuter VM, Vtorushin SV, et al. The presence of alveolar structures in invasive ductal NOS breast carcinoma is associated with lymph node metastasis. Diagn Cytopathol 2013; 41 (3): 279–82.
Polyak K, Farber D. Heterogeneity in breast cancer. J Clin Invest 2011; 121 (10): 3786–8.
Геращенко ТС, Завьялова МВ, Денисов ЕВ и др. Внутриопухолевая морфологическая гетерогенность инвазивного протокового рака молочной железы: формирование и молекулярно-генетические особенности. Мед акад журн 2012; 12 (4): 66–8.
Jeong BS, Hu W, Belyi V, et al. Differential levels of transcription of p53-regulated genes by the arginine/proline polymorphism: p53 with arginine at codon 72 favors apoptosis. FASEB J 2010; 24 (5): 1347–53.
Mardekian SK, Bombonati A, Palazzo JP. Ductal carcinoma in situ of the breast: the importance of morphologic and molecular interactions. Hum Pathol 2016; 49: 114–23.
Sarode VR, Han JS, Morris DH, et al. A comparative analysis of biomarker expression and molecular subtypes of pure ductal carcinoma in situ and invasive breast carcinoma by image analysis: Relationship of the subtypes with histologic grade, Ki67, p53 overexpression, and DNA ploidy. Int J Breast Cancer 2011; 2011: 217060.
Baker EN, Baker HM. A structural framework for understanding the multifunctional character of lactoferrin. Biochimie 2009; 91 (1): 3–10.
Gkouvatsos K, Papanikolaou G, Pantopoulos K. Regulation of iron transport and the role of transferrin. Biochim Biophys Acta 2012; 1820: 188–202.
Wnag W, Knovich MA, Coffman LG, et al. Serum ferritin: past, present and future. Biochim Biophis Acta 2010; 1880:
–9.
Akhateeb AA, Han BC, Connor JR. Ferritin stimulates breast cancer cells through an iron-independent mechanism and
is localized within tumor-associated macrophages. Breast Cancer Res Treat 2013; 1372: 733–44.
Torti SV, Torti FM. Iron and cancer: more ore to be mined Nat Rev Cancer 2013; 13 (5): 342–55.
Чехун СВ. Особливості міжпухлинної гетерогенності раку молочної залози (експериментальне та клінічне дослідження) [Автореф дис… канд мед наук]. Київ: Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України, 2015. 24 с.
Shpyleva SI, Tryndyak VP, Kovalchuk O, et al. Role of ferritin alterations in human breast cancer cells. Breast Cancer Res Treat 2011; 126 (1): 63–71.
Ricolleau G, Charbonnel C, Lode L, et al. Surface-enhanced laser desorption/ionization time of fight mass spectrometry protein profiling identifies ubiqutin light chain as prognostic biomarkers in node-negative breast cancer tumors. Proteomics 2006; 6: 1963–75.
Robb A, Wessling-Resnick M. Regulation of transferrin receptor 2 protein levels by transferrin. Blood 2004; 104 (13):
–9. 70. Orlandi R, De Bortoli M, Ciniselli CM, Vaghi ED. Hepcidin and ferritin blood level as noninvasive tools for predicting breast cancer. Ann Oncol 2014; 25 (2): 352–7.
Чепкий ЛП, Сидорик ЕП, Долгова МИ и др. Соотношение церулоплазмин-трансферрин и трансферринметгемоглобин в прогнозировании послеоперационных осложнений у больных с внутречерепными внемозговыми краниобазальными опухолями. Укр нейрохірург журн
; 3: 65–72.
Tapryal N, Mukhopadhyay Ch, Paul L, et al. Reactive oxygen species regulate ceruloplasmin by a novel mRNA decay mechanism involving its 3’-untranslated region. J Biol Chem 2009; 284 (3): 1873–83.
Metz-Boutique MH, Jolles J, Mazurier J. Human lactotransferrin: amino acid sequence and structural comparisons with other transferrins. Eur J Biochem 1984; 145: 659–76.
Zucali J, Broxmeyer H, Levy D, Morse C. Lactoferrin decreases monocyte-induced fibroblast production of myeloid colony-stimulating activity by suppressing monocyte release of interleukin-1. Blood 1989; 74 (5): 1531–6.
Bennett LE, Bird M, Nigro J. Comparison of molecular functions of lactoferrin and amyloid precursor protein support their functional roles in the innate immune system and links with infection in Alzheimer’s disease risk. Inflammation Cell Signaling 2015; 2: e805.
Levay PF, Viljoen M. Lactoferrin: a general review. Haematologica 1995; 80: 252–67.
Kanyshkova TG, Buneva VN, Nevinsky GA. Lactoferrin and its biological functions. Biochemistry 2001; 66: 1–7.
Birgens HS. Lactoferrin in plasma measured by an ELISA technique: evidence that plasma lactoferrin is an indicator of neutrophil turnover and bone marrow activity in acute leukaemia. Scandinavian J Haematol 1985; 4: 326–31.
Furmanski P, Li ZP, Fortuna MB. Multiple molecular forms of human lactoferrin. Identification of a class of lactoferrins that possess ribonuclease activity and lack iron-binding capacity. J Exp Med 2002; 170: 415–29.
Борзенкова НВ, Балабушевич НГ, Ларионова НИ. Лактоферрин: физико-химические свойства, биологические функции, системы доставки, лекарственные препараты и биологически активные добавки. Биофармацевт журн 2010; 2 (3): 3–19.
Legrand D, Maurier J. A critical review of the roles of host lactofferin in immunity. Biometals 2010; 23 (3): 365–76.
Jenssen H, Hancock RE. Antimicrobial properties of lactoferrin. Biochimie 2009; 91 (1): 19–29.
Goldman I, Deikin AV, Sadchikova ER. Human lactofferin can be alternative to antibiotics. In: Proceesing of the World Med Conf 2010; 27–38.
Kuhara I, ligo M, Itoh T, et al. Orally administered lactoferrin exerts an antimetastatic effect and enhances production of IL-18 in the intestinal epithelium. Nutr Cancer
; 38: 192–9.
Tsuda H, Sekine K, Takasuka N, et al. Prevention of colon carcinogenesis and carcinoma metastasis by orally administered bovin lactoferrin in animals. Biofactors 2000; 12: 83–8.
Кобляков АВ, Антошина ЕЕ, Горькова ТГ, Гольдман ИЛ. Тормозящее действие лактоферрина человека (неолактоферрина) на рост перевиваемой опухоли шейки матки мышей. Вопр онкол 2012; 58 (5): 668–73.
Farley J, Loup D, Nelson M, et al. Neoplastic transformation of the endocervix associated with downregulation of lactoferrin expression. Mol Carcinog 1997; 20: 240–50.
Walmer DK, Wrona MA, Hughes CL, Nelson KG. Lactoferrin expression in the mouse reproductive tract during the natural estrous cycle: correlation with circulating estradiol and progesterone. Endocrinol 1993; 131: 1458–66.
Wolf JS, Li G, Varadhachary A, et al. Oral lactoferrin results in T Cell dependent tumor inhibition of head and neck squamous cell carcinoma in vivo. Clin Cancer Res 2007; 13: 1601–10.
Suzuki YA, Lopez V, Lonnertial B. Mammalian lactofferin receptors: structure and function. Cel Mol Life Sci 2005; 62:
–75.
Naleskina LA, Lukianova NY, Sobchenko SO, et al.Lactoferrin expression in breast cancer in relation to biologic properties of tumors and clinical features of disease. Exp Oncol 2016; 38 (3): 181–6.
Rossiello R, Carriero MV, Giordano GG. Distribution of ferritin, transferrin and lactoferrin in breast carcinoma tissue. J Clin Pathol 1984; 37 (1): 51–5.
Schulz DM, Böllner C, Thomas G, et al. Identification of differentially expressed proteins in triple-negative breast carcinomas using DIGE and mass spectrometry. J Proteome Res 2009; 8 (7): 3430–8.
