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Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study


Navya Nair and colleagues describe a screening method for early identification of endometrial cancer. This method also reveals cancer mutations in women without cancer.


Vyšlo v časopise: Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study. PLoS Med 13(12): e32767. doi:10.1371/journal.pmed.1002206
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pmed.1002206

Souhrn

Navya Nair and colleagues describe a screening method for early identification of endometrial cancer. This method also reveals cancer mutations in women without cancer.


Zdroje

1. American Cancer Society. Cancer Facts & Figures 2016. Atlanta: American Cancer Society, 2016.

2. Rahib L, Smith BD, Aizenberg R, Rosenzweig AB, Fleshman JM, Matrisian LM. Projecting Cancer Incidence and Deaths to 2030: The Unexpected Burden of Thyroid, Liver, and Pancreas Cancers in the United States. Cancer Res. 2014 Jun 1;74(11):2913–21. doi: 10.1158/0008-5472.CAN-14-0155 24840647

3. Siegel RL, Miller KD, Jemal A. Cancer statistics, 2016: Cancer Statistics, 2016. CA Cancer J Clin. 2016 Jan;66(1):7–30. doi: 10.3322/caac.21332 26742998

4. Goldstein RB, Bree RL, Benson CB, Benacerraf BR, Bloss JD, Carlos R, et al. Evaluation of the woman with postmenopausal bleeding: Society of Radiologists in Ultrasound-Sponsored Consensus Conference statement. J Ultrasound Med Off J Am Inst Ultrasound Med. 2001 Oct;20(10):1025–36.

5. Katz Vern L.. Comprehensive Gynecology. Fifth edition. Philadelphia: Mosby Elsevier; 2007.

6. Soleymani E, Ziari K, Rahmani O, Dadpay M, Taheri-Dolatabadi M, Alizadeh K, et al. Histopathological findings of endometrial specimens in abnormal uterine bleeding. Arch Gynecol Obstet. 2014 Apr;289(4):845–9. doi: 10.1007/s00404-013-3043-1 24121689

7. Abid M, Hashmi AA, Malik B, Haroon S, Faridi N, Edhi MM, et al. Clinical pattern and spectrum of endometrial pathologies in patients with abnormal uterine bleeding in Pakistan: need to adopt a more conservative approach to treatment. BMC Womens Health [Internet]. 2014 Dec [cited 2016 Jul 4];14(1). http://bmcwomenshealth.biomedcentral.com/articles/10.1186/s12905-014-0132-7

8. Gimpelson RJ, Rappold HO. A comparative study between panoramic hysteroscopy with directed biopsies and dilatation and curettage. A review of 276 cases. Am J Obstet Gynecol. 1988 Mar;158(3 Pt 1):489–92. 3348309

9. Traut HF, Papanicolaou GN. Cancer of the Uterus: The Vaginal Smear in Its Diagnosis. Calif West Med. 1943 Aug;59(2):121–2.

10. McGowan L. Cytologic methods for the detection of endometrial cancer. Gynecol Oncol. 1974 Aug;2(2–3):272–8. 4616881

11. Boone JD, Erickson BK, Huh WK. New insights into cervical cancer screening. J Gynecol Oncol. 2012;23(4):282. doi: 10.3802/jgo.2012.23.4.282 23094132

12. Morton DG, Moore JG, Chang N. Endometrial lavage as an aid in the diagnosis of carcinoma of the endometrium. West J Surg Obstet Gynecol. 1957 Jun;65(3):113–25. 13443261

13. Guralp O, Sheridan SM, Harter J, Hinshaw JL, Seo S, Hartenbach EM, et al. A New Diagnostic Test for Endometrial Cancer?: Cytology Analysis of Sonohysterography Distention Media. Int J Gynecol Cancer. 2013 Sep;23(7):1252–7. doi: 10.1097/IGC.0b013e31829fe8f6 23881100

14. Rotenberg O, Renz M, Reimers L, Doulaveris G, Gebb J, Goldberg GL, et al. Simultaneous Endometrial Aspiration and Sonohysterography for the Evaluation of Endometrial Pathology in Women Aged 50 Years and Older: Obstet Gynecol. 2015 Feb;125(2):414–23. doi: 10.1097/AOG.0000000000000631 25568988

15. Lopata A, Agresta F, Quinn MA, Smith C, Ostor AG, Salamonsen LA. Detection of endometrial cancer by determination of matrix metalloproteinases in the uterine cavity. Gynecol Oncol. 2003 Aug;90(2):318–24. 12893193

16. Bouquier J, Blons H, Narjoz C, Lécuru F, Laurent-Puig P, Bats A-S. Microsatellite instability analysis in uterine cavity washings as a screening tool for endometrial cancer in Lynch syndrome. Fam Cancer. 2011 Dec;10(4):655–7. doi: 10.1007/s10689-011-9470-x 21822721

17. Kinde I, Bettegowda C, Wang Y, Wu J, Agrawal N, Shih I-M, et al. Evaluation of DNA from the Papanicolaou Test to Detect Ovarian and Endometrial Cancers. Sci Transl Med. 2013 Jan 9;5(167):167ra4–167ra4. doi: 10.1126/scitranslmed.3004952 23303603

18. Maritschnegg E, Wang Y, Pecha N, Horvat R, Van Nieuwenhuysen E, Vergote I, et al. Lavage of the Uterine Cavity for Molecular Detection of Mullerian Duct Carcinomas: A Proof-of-Concept Study. J Clin Oncol. 2015 Dec 20;33(36):4293–300. doi: 10.1200/JCO.2015.61.3083 26552420

19. Getz G, Gabriel SB, Cibulskis K, Lander E, Sivachenko A, Sougnez C, et al. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 May 1;497(7447):67–73. doi: 10.1038/nature12113 23636398

20. Talhouk A, McConechy MK, Leung S, Li-Chang HH, Kwon JS, Melnyk N, et al. A clinically applicable molecular-based classification for endometrial cancers. Br J Cancer. 2015 Jul 14;113(2):299–310. doi: 10.1038/bjc.2015.190 26172027

21. McConechy MK, Ding J, Cheang MC, Wiegand KC, Senz J, Tone AA, et al. Use of mutation profiles to refine the classification of endometrial carcinomas. J Pathol. 2012;228(1):20–30. doi: 10.1002/path.4056 22653804

22. Pengelly RJ, Gibson J, Andreoletti G, Collins A, Mattocks CJ, Ennis S. A SNP profiling panel for sample tracking in whole-exome sequencing studies. Genome Med. 2013;5(9):89. doi: 10.1186/gm492 24070238

23. Martin M. Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet.journal. 2011 May 2;17(1):10.

24. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinforma Oxf Engl. 2009 Jul 15;25(14):1754–60.

25. Pereira E, Camacho-Vanegas O, Anand S, Sebra R, Catalina Camacho S, Garnar-Wortzel L, et al. Personalized Circulating Tumor DNA Biomarkers Dynamically Predict Treatment Response and Survival In Gynecologic Cancers. Samimi G, editor. PLoS ONE. 2015 Dec 30;10(12):e0145754. doi: 10.1371/journal.pone.0145754 26717006

26. Cancer Genome Atlas Research Network, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, et al. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 May 2;497(7447):67–73. doi: 10.1038/nature12113 23636398

27. Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012 May;2(5):401–4. doi: 10.1158/2159-8290.CD-12-0095 22588877

28. Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, Boutselakis H, et al. COSMIC: exploring the world’s knowledge of somatic mutations in human cancer. Nucleic Acids Res. 2015 Jan;43(Database issue):D805–11. doi: 10.1093/nar/gku1075 25355519

29. Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 2011 Sep 1;39(17):e118. doi: 10.1093/nar/gkr407 21727090

30. Ciriello G, Miller ML, Aksoy BA, Senbabaoglu Y, Schultz N, Sander C. Emerging landscape of oncogenic signatures across human cancers. Nat Genet. 2013 Oct;45(10):1127–33. doi: 10.1038/ng.2762 24071851

31. Reva B. Revealing selection in cancer using the predicted functional impact of cancer mutations. Application to nomination of cancer drivers. BMC Genomics. 2013;14 Suppl 3:S8.

32. Gnad F, Baucom A, Mukhyala K, Manning G, Zhang Z. Assessment of computational methods for predicting the effects of missense mutations in human cancers. BMC Genomics. 2013;14 Suppl 3:S7.

33. Montanari GD, Marconato A, Grismondi GL, Giaretta MI, Montanari GR. Endometrial lavage as an aid in the cytochemical detection of adenocarcinomata. Cancer. 1966 Nov;19(11):1578–82. 5925267

34. Reagan JW, Sommerville RL. A cellular study of uterine aspirations. Am J Obstet Gynecol. 1954 Sep;68(3):781–5. 13188908

35. Bettegowda C, Sausen M, Leary RJ, Kinde I, Wang Y, Agrawal N, et al. Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies. Sci Transl Med. 2014 Feb 19;6(224):224ra24–224ra24. doi: 10.1126/scitranslmed.3007094 24553385

36. Dawson S-J, Tsui DWY, Murtaza M, Biggs H, Rueda OM, Chin S-F, et al. Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer. N Engl J Med. 2013 Mar 28;368(13):1199–209. doi: 10.1056/NEJMoa1213261 23484797

37. American Cancer Society. Endometrial (Uterine) Cancers [Internet]. 2016. http://www.cancer.org/acs/groups/cid/documents/webcontent/003097-pdf.pdf

38. Matias-guiu X, Catasus L, Bussaglia E, Lagarda H, Garcia A, Pons C, et al. Molecular pathology of endometrial hyperplasia and carcinoma. Hum Pathol. 2001 Jun;32(6):569–77. doi: 10.1053/hupa.2001.25929 11431710

39. Mao T-L, Ardighieri L, Ayhan A, Kuo K-T, Wu C-H, Wang T-L, et al. Loss of ARID1A expression correlates with stages of tumor progression in uterine endometrioid carcinoma. Am J Surg Pathol. 2013 Sep;37(9):1342–8. doi: 10.1097/PAS.0b013e3182889dc3 24076775

40. Matteson KA, Raker CA, Clark MA, Frick KD. Abnormal Uterine Bleeding, Health Status, and Usual Source of Medical Care: Analyses Using the Medical Expenditures Panel Survey. J Womens Health. 2013 Nov;22(11):959–65.

41. Bradley LD, Gueye N-A. The medical management of abnormal uterine bleeding in reproductive-aged women. Am J Obstet Gynecol. 2016 Jan;214(1):31–44. doi: 10.1016/j.ajog.2015.07.044 26254516

42. Clark TJ, Voit D, Gupta JK, Hyde C, Song F, Khan KS. Accuracy of hysteroscopy in the diagnosis of endometrial cancer and hyperplasia: a systematic quantitative review. JAMA. 2002 Oct 2;288(13):1610–21. 12350192

43. Savelli L, De Iaco P, Santini D, Rosati F, Ghi T, Pignotti E, et al. Histopathologic features and risk factors for benignity, hyperplasia, and cancer in endometrial polyps. Am J Obstet Gynecol. 2003 Apr;188(4):927–31. 12712087

44. Ricciardi E, Vecchione A, Marci R, Schimberni M, Frega A, Maniglio P, et al. Clinical factors and malignancy in endometrial polyps. Analysis of 1027 cases. Eur J Obstet Gynecol Reprod Biol. 2014 Dec;183:121–4. doi: 10.1016/j.ejogrb.2014.10.021 25461364

45. Baiocchi G, Manci N, Pazzaglia M, Giannone L, Burnelli L, Giannone E, et al. Malignancy in endometrial polyps: a 12-year experience. Am J Obstet Gynecol. 2009 Nov;201(5):462.e1–462.e4.

46. Hassa H, Tekin B, Senses T, Kaya M, Karatas A. Are the site, diameter, and number of endometrial polyps related with symptomatology? Am J Obstet Gynecol. 2006 Mar;194(3):718–21. doi: 10.1016/j.ajog.2005.08.060 16522403

47. Orvieto R, Bar-Hava I, Dicker D, Bar J, Ben-Rafael Z, Neri A. Endometrial polyps during menopause: characterization and significance. Acta Obstet Gynecol Scand. 1999 Nov;78(10):883–6. 10577618

48. Rahimi S, Marani C, Renzi C, Natale ME, Giovannini P, Zeloni R. Endometrial polyps and the risk of atypical hyperplasia on biopsies of unremarkable endometrium: a study on 694 patients with benign endometrial polyps. Int J Gynecol Pathol Off J Int Soc Gynecol Pathol. 2009 Nov;28(6):522–8.

49. Ferrazzi E, Zupi E, Leone FP, Savelli L, Omodei U, Moscarini M, et al. How often are endometrial polyps malignant in asymptomatic postmenopausal women? A multicenter study. Am J Obstet Gynecol. 2009 Mar;200(3):235.e1–235.e6.

50. Lieng M, Qvigstad E, Sandvik L, Jørgensen H, Langebrekke A, Istre O. Hysteroscopic resection of symptomatic and asymptomatic endometrial polyps. J Minim Invasive Gynecol. 2007 Apr;14(2):189–94. doi: 10.1016/j.jmig.2006.09.018 17368255

51. Wethington SL, Herzog TJ, Burke WM, Sun X, Lerner JP, Lewin SN, et al. Risk and predictors of malignancy in women with endometrial polyps. Ann Surg Oncol. 2011 Dec;18(13):3819–23. doi: 10.1245/s10434-011-1815-z 21701931

52. Shushan A, Revel A, Rojansky N. How often are endometrial polyps malignant? Gynecol Obstet Invest. 2004;58(4):212–5. doi: 10.1159/000080189 15316149

53. Anastasiadis PG, Koutlaki NG, Skaphida PG, Galazios GC, Tsikouras PN, Liberis VA. Endometrial polyps: prevalence, detection, and malignant potential in women with abnormal uterine bleeding. Eur J Gynaecol Oncol. 2000;21(2):180–3. 10843481

54. Committee on Gynecologic Practice, Society of Gynecologic Oncology. The American College of Obstetricians and Gynecologists Committee Opinion no. 631. Endometrial intraepithelial neoplasia. Obstet Gynecol. 2015 May;125(5):1272–8. doi: 10.1097/01.AOG.0000465189.50026.20 25932867

55. Horn L-C, Schnurrbusch U, Bilek K, Hentschel B, Einenkel J. Risk of progression in complex and atypical endometrial hyperplasia: clinicopathologic analysis in cases with and without progestogen treatment. Int J Gynecol Cancer Off J Int Gynecol Cancer Soc. 2004 Apr;14(2):348–53.

56. Rios SS, Andrade RV, Pereira RW, Wall NR, Bahjri K, Caldas É, et al. Microsatellite instability in endometrial polyps. Eur J Obstet Gynecol Reprod Biol. 2010 Dec;153(2):193–7. doi: 10.1016/j.ejogrb.2010.07.028 20705379

57. Martincorena I, Campbell PJ. Somatic mutation in cancer and normal cells. Science. 2015 Sep 25;349(6255):1483–9. doi: 10.1126/science.aab4082 26404825

58. Genovese G, Kähler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014 Dec 25;371(26):2477–87. doi: 10.1056/NEJMoa1409405 25426838

59. Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014 Dec 25;371(26):2488–98. doi: 10.1056/NEJMoa1408617 25426837

60. McKerrell T, Park N, Moreno T, Grove CS, Ponstingl H, Stephens J, et al. Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis. Cell Rep. 2015 Mar 3;10(8):1239–45. doi: 10.1016/j.celrep.2015.02.005 25732814

61. Jonason AS, Kunala S, Price GJ, Restifo RJ, Spinelli HM, Persing JA, et al. Frequent clones of p53-mutated keratinocytes in normal human skin. Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):14025–9. 8943054

62. Ling G, Persson A, Berne B, Uhlén M, Lundeberg J, Ponten F. Persistent p53 mutations in single cells from normal human skin. Am J Pathol. 2001 Oct;159(4):1247–53. doi: 10.1016/S0002-9440(10)62511-4 11583952

63. Martincorena I, Roshan A, Gerstung M, Ellis P, Van Loo P, McLaren S, et al. Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin. Science. 2015 May 22;348(6237):880–6. doi: 10.1126/science.aaa6806 25999502

64. Krimmel JD, Schmitt MW, Harrell MI, Agnew KJ, Kennedy SR, Emond MJ, et al. Ultra-deep sequencing detects ovarian cancer cells in peritoneal fluid and reveals somatic TP53 mutations in noncancerous tissues. Proc Natl Acad Sci U S A. 2016 May 24;113(21):6005–10. doi: 10.1073/pnas.1601311113 27152024

65. Nowell PC. The clonal evolution of tumor cell populations. Science. 1976 Oct 1;194(4260):23–8. 959840

66. Stratton MR, Campbell PJ, Futreal PA. The cancer genome. Nature. 2009 Apr 9;458(7239):719–24. doi: 10.1038/nature07943 19360079

67. Abkowitz JL. Clone wars—the emergence of neoplastic blood-cell clones with aging. N Engl J Med. 2014 Dec 25;371(26):2523–5. doi: 10.1056/NEJMe1412902 25426835

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