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Злокачественные опухоли

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Морфологические особенности BRCA1‑ассоциированных опухолей

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Аннотация

BRCA1‑ассоциированные новообразования представляют собой большую гетерогенную группу опухолей с различным фенотипом, клинической картиной и прогнозом. Наличие мутации BRCA1 позволяет использовать современные эффективные стратегии лекарственной терапии опухолей с использованием PARP-ингибиторов для достижения наилучших результатов лечения. Новообразования молочной железы и яичника у носителей мутаций BRCA1 возникают значительно чаще, чем опухоли иных локализаций. BRCA1‑ассоциированные карциномы имеют определенные морфологические особенности, которые позволяют рекомендовать пациентам проведение молекулярно-генетического исследования.

Об авторах

А. О. Иванцов
ФГБУ «Научно-исследовательский институт онкологии имени Н. Н. Петрова» Министерства здравоохранения РФ; ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Министерства здравоохранения РФ.
Россия


Р. А. Насыров
ФГБУ «Научно-исследовательский институт онкологии имени Н. Н. Петрова» Министерства здравоохранения РФ; ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Министерства здравоохранения РФ.
Россия


E. H. Имянитов
ФГБУ «Научно-исследовательский институт онкологии имени Н. Н. Петрова» Министерства здравоохранения РФ; ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Министерства здравоохранения РФ.
Россия


А. П. Соколенко
ФГБУ «Научно-исследовательский институт онкологии имени Н. Н. Петрова» Министерства здравоохранения РФ; ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Министерства здравоохранения РФ.
Россия


Список литературы

1. Armes J., Egan A., Southey M., et al. The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study // Cancer. 1998. Vol. 83(11). p. 2335–45.

2. Atchley D., Albarracin C., Lopez A., et al. Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer // J Clin Oncol. 2008. Vol. 26. p. 4282–8.

3. Biron-Shental T, Drucker L, Altaras M, et al. High incidence of BRCA1-2 germline mutations, previous breast cancer and familial cancer history in Jewish patients with uterine serous papillary carcinoma // Eur J Surg Oncol. 2006. 32(10). p. 1097–100.

4. Breast Cancer Linkage Consortium Pathology of familial breast cancer: differences between breast cancer in carriers of BRCA1 or BRCA2 mutations and sporadic cases // Lancet. 1997. Vol. 349. p. 1505–1510.

5. Bruchim I, Amichay K, Kidron D, et al. BRCA1/2 germline mutations in Jewish patients with uterine serous carcinoma // Int J Gynecol Cancer. 2010. 20(7). p. 1148–53.

6. Castro E., Goh C., Olmos D., et al. Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer // J Clin Oncol. 2013. Vol. 31(14). p. 1748–57.

7. Crook T., Crossland S., Crompton M., et al. p53 mutations in BRCA1-associated familial breast cancer // Lancet. 1997. Vol. 350(9078). p. 638–9.

8. Coleman, M.P., Forman D., Bryant H. et al. Cancer survival in Australia, Canada, Denmark, Norway, Sweden and the UK, 1995–2007 (the International Cancer Benchmarking 154 Partnership): an analysis of population-based cancer registry data // Lancet. 2011. 377(9760). P. 127–138.

9. Eisinger F., Stoppa-Lyonnet D., Longy M., et al. Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer // Cancer Res. 1996. Vol. 56. p. 471–474.

10. Eisinger F., Jacquemier J., Charpin C., et al. Mutations at BRCA1: the medullary breast carcinoma revisited // Cancer Res. 1998. Vol. 58(8). p. 1588–92.

11. Evans D., Lalloo F., Howell S., et al. Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens // Breast Cancer Res Treat. 2016. Vol. 155(3). p. 597–601.

12. Evans T., Sany O., Pearmain P. et al. Differential trends in the rising incidence of endometrial cancer by type: data from a UK population-based registry from 1994 to 2006 // British Journal of Cancer. 2011. Vol. 104. № 9. Р. 1505–1510.

13. Ferlay J., Soerjomataram I., Ervik M., et al. et al. GLOBOCAN 2012 v. 1.0, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 11 [Internet].

14. Ferrone C., Levine D., Tang L. et al. BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma // J. Clin. Oncol. 2009. Vol. 27 p. 433–438.

15. Foulkes W., Metcalfe K., Sun P., et al. Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type // Clin Cancer Res. 2004. Vol. 10. p. 2029–34.

16. Gallagher D., Gaudet M., Pal P., et al. Germline BRCA mutations denote a clinicopathologic subset of prostate cancer // Clin Cancer Res. 2010. Vol. 16(7). p. 2115–21.

17. Giusti R., Rutter J., Duray P., et al. A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology // J Med Genet. 2003. Vol. 40(10). p. 787–92.

18. Jaworowska E., Tarnowska C., Lubinski J., et al. Clinical characteristics of laryngeal cancer in BRCA-1 mutation carriers. Anticancer Res. 2009. Vol. 29(7). p. 2703–5.

19. Johannsson O., Idvall I., Anderson C., et al. Tumour biological features of BRCA1-induced breast and ovarian cancer // Eur J Cancer. 1997. Vol. 33(3). p. 362–71.

20. Haffty B., Choi D., Goyal S., et al. Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups // Ann Oncol. 2009. Vol. 20(10). p. 1653–9.

21. Hassanein M., Huiart L., Bourdon V., et al. Prediction of BRCA1 germ-line mutation status in patients with breast cancer using histoprognosis grade, MS110, Lys27H3, vimentin, and KI67 // Pathobiology. 2013. Vol. 80(5). p. 219–27.

22. Heerma van Voss M., van der Groep P., Bart J., et al. Lympho-vascular invasion in BRCA related breast cancer compared to sporadic controls // BMC Cancer. 2010. Vol 16. p. 145.

23. Holter S., Borgida A., Dodd A., et al. Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma // J Clin Oncol. 2015. Vol. 33(28). p. 3124–9.

24. Hussein Y., Ducie J., Arnold A., et al. Invasion Patterns of Metastatic Extrauterine High-grade Serous Carcinoma With BRCA Germline Mutation and Correlation With Clinical Outcomes // Am J Surg Pathol. 2016. Vol. 40(3). p. 404–9.

25. Konstantinopoulos P., Spentzos D., Karlan B., et al. Gene expression profile of BRCAness that correlates with responsiveness to chemotherapy and with outcome in patients with epithelial ovarian cancer // J Clin Oncol. 2010. Vol. 28(22). p. 3555-61.

26. Kuligina E., Reiner A., Imyanitov E., Begg C. Evaluating cancer epidemiologic risk factors using multiple primary malignancies // Epidemiology. 2010. Vol. 21(3). p. 366–372.

27. Lal G., Liu G., Schmocker B. et al. Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations // Cancer Res. 2000. Vol. 60. p. 409–416.

28. Lakhani S., Jacquemier J., Sloane J., et al. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations // J Natl Cancer Inst.1998. Vol. 90(15). p. 1138–45.

29. Lakhani S., Van De Vijver M., Jacquemier J., et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2 // J Clin Oncol. 2002. Vol. 20. p. 2310–8.

30. Lakhani S., Reis-Filho J., Fulford L., et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype // Clin Cancer Res. 2005. Vol. 11. p. 5175–80.

31. Lavie O., Ben-Arie A, Segev Y, et al. BRCA germline mutations in women with uterine serous carcinoma--still a debate // Int J Gynecol Cancer. 2010. Vol. 20(9). p. 1531–4.

32. Lawniczak M., Gawin A., Biafek A. et al. Is there any relationship between BRCA1 gene mutation and pancreatic cancer development? // Pol. Arch. Med. Wewn. 2008. Vol. 118. p. 645–649.

33. Levine D., Lin O., Barakat R., et al. Risk of endometrial carcinoma associated with BRCA mutation // Gynecol Oncol. 2001. Vol. 80(3). p. 395–8.

34. Lucas A., Shakya R., Lipsyc M., et al. High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions // Clin Cancer Res. 2013. Vol. 19. p. 3396–3403.

35. Mangia A., Tommasi S., Bruno M., et al. Histological features of extratumoral breast lesions as a predictive factor of familial breast cancer // Oncol Rep. 2010. Vol. 23(6). p. 1641–5.

36. Mavaddat N., Barrowdale D., Andrulis I., et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) // Cancer Epidemiol Biomarkers Prev. 2012. Vol. 21(1). p. 134-47.

37. Mitra A., Jameson C., Barbachano Y. et al. Elevated expression of Ki-67 identifies aggressive prostate cancers but does not distinguish BRCA1 or BRCA2 mutation carriers // Oncol Rep. 2010. Vol. 23(2). p. 299–305.

38. Mohanty S., Lai J., Gordon O., et al. BRCA-mutated Invasive Breast Carcinomas: Immunohistochemical Analysis of Insulin-like Growth Factor II mRNA-binding Protein (IMP3), Cytokeratin 8/18, and Cytokeratin 14 // Breast J. 2015. Vol. 21(6). p. 596–603.

39. Moiseyenko V., Volkov N., Suspistin E., et al. Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer // Med Oncol. 2013. Vol. 30(2). p. 545.

40. Noh J., Choi D., Baek H., et al. Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary // J Breast Cancer. 2012. Vol. 15(3). p. 283–7.

41. Noori S., Gangi A., Nelson M., et al. Comparison of nodal metastasis between BRCA mutation carriers and non-BRCA mutation carriers with breast cancer // Ann Surg Oncol. 2014. Vol. 21(10). p. 3324–9.

42. Palacios J., Honrado E., Osorio A., et al. Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers // Breast Cancer Res Treat. 2005. Vol. 90:5. p. 14.

43. Pierce L., Phillips K., Griffith K., et al. Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy // Breast Cancer Res Treat. 2010. Vol. 121(2). p. 389–98.

44. Pennington KP, Walsh T, Lee M, et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma // Cancer. 2013. Vol. 119(2). p. 332–8.

45. Plakhins G., Irmejs A., Gardovskis A., et al. Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia // BMC Med Genet. 2011. Vol. 12. p. 147.

46. Reyes M., Arnold A., Kauff N., et al. Invasion patterns of metastatic high-grade serous carcinoma of ovary or fallopian tube associated with BRCA deficiency // Mod Pathol. 2014. Vol. 27(10). p. 1405–11.

47. Ricci S., Shafer A., Nerenstone S., et al. A surveillance conundrum: a case of 4 distinct primary malignancies in a BRCA-1 mutation carrier // Int J Gynecol Pathol. 2012. Vol. 31(2). p. 145–8.

48. Schlichtholz B., Bouchind’homme B., Pages S., et al. p53 mutations in BRCA1-associated familial breast cancer // Lancet. 1998. Vol. 352(9128). p. 622.

49. Segev Y., Iqbal J., Lubinski J., et al. The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: an international prospective cohort study // Gynecol Oncol. 2013. Vol.130(1). p. 127–31.

50. Shen T., Teknos T., Toland A., et al. Salivary gland cancer in BRCA-positive families: a retrospective review // JAMA Otolaryngol Head Neck Surg. 2014. Vol. 140(12). p. 1213–7.

51. Singer C., Zabkova P., Rappaport C., et al. Presence of intratumoral stem cells in breast cancer patients with or without BRCA germline mutations // Curr Cancer Drug Targets. 2012. Vol. 12(1). p. 44–50.

52. Sorlie T., Tibshirani R., Parker J., et al. Repeated observation of breast tumor subtypes in independent gene expression data sets // Proc Natl Acad Sci U S A. 2003. Vol. 100. p. 8418–23.

53. Southey M.C, Ramus S., Dowty J., et al. Morphological predictors of BRCA1 germline mutations in young women with breast cancer // Br J Cancer. 2011. Vol. 104(6). p. 903–9.

54. Soslow R., Han G., Park K., et al. Morphologic patterns associated with BRCA1 and BRCA2 genotype in ovarian carcinoma // Mod Pathol. 2012. Vol. 25(4). p. 625–36.

55. Suspitsin E., Sherina N., Ponomariova D., et al. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients // Hered Cancer Clin Pract. 2009. Vol. 7(1). p. 5.

56. Thompson K., Hernandez J., Canby-Hagino E., et al. Prognostic features in men who died of prostate cancer // J Urol. 2005. Vol. 174. p. 553–6.

57. Tucker H., Charles Z., Robertson J., Adam J. NICE guidance on olaparib for maintenance treatment of patients with relapsed, platinum-sensitive, BRCA mutation-positive ovarian cancer // Lancet Oncol. 2016. Vol. 17(3). p. 277–8.

58. Vargas A., Da Silva L., Lakhani S. The contribution of breast cancer pathology to statistical models to predict mutation risk in BRCA carriers // Fam Cancer. 2010. Vol. 9(4). p. 545–53.

59. Waisbren J., Uthe R., Siziopikou K., Kaklamani V. BRCA 1/2 gene mutation and gastrointestinal stromal tumours: a potential association // BMJ Case Rep. 2015. pii: bcr2014208830.


Для цитирования:


Иванцов А.О., Насыров Р.А., Имянитов E.H., Соколенко А.П. Морфологические особенности BRCA1‑ассоциированных опухолей. Злокачественные опухоли. 2018;(3s1):90-95.

For citation:


., ., ., . . Malignant tumours. 2018;(3s1):90-95. (In Russ.)

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