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Biomarkers in Endometriosis

  • Vicki Nisenblat
  • M. Louise Hull

Abstract

Although there are no data to show that early treatment of endometriosis prevents progression of the disease, untreated endometriosis is linked with reduced quality of life and outcomes such as depression, inability to work, sexual dysfunction, and missed opportunity for motherhood [1, 2].

References

  1. 1.
    Matsuzaki S, Canis M, Pouly JL, Rabischong B, Botchorishvili R, Mage G. Relationship between delay of surgical diagnosis and severity of disease in patients with symptomatic deep infiltrating endometriosis. Fertil Steril. 2006;86:1314–6.CrossRefGoogle Scholar
  2. 2.
    Gao X, Yeh YC, Outley J, Simon J, Botteman M, Spalding J. Health-related quality of life burden of women with endometriosis: a literature review. Curr Med Res Opin. 2006;22:1787–97.CrossRefGoogle Scholar
  3. 3.
    Ballard KD, Seaman HE, de Vries CS, Wright JT. Can symptomatology help in the diagnosis of endometriosis? Findings from a national case-control study - Part 1. BJOG. 2008;115(11):1382–91.CrossRefGoogle Scholar
  4. 4.
    Nnoaham KE, Hummelshoj L, Kennedy SH, Jenkinson C, Zondervan KT, World Endometriosis Research Foundation Women’s Health Symptom Survey Consortium. Developing symptom-based predictive models of endometriosis as a clinical screening tool: results from a multicenter study. Fertil Steril. 2012;98:692–701.CrossRefGoogle Scholar
  5. 5.
    Eskenazi B, Warner M, Bonsignore L, Olive D, Samuels S, Vercellini P. Validation study of nonsurgical diagnosis of endometriosis. Fertil Steril. 2001;76(5):929–35.CrossRefGoogle Scholar
  6. 6.
    Wykes CB, Clark TJ, Khan KS. Accuracy of laparoscopy in the diagnosis of endometriosis: a systematic quantitative review. BJOG. 2004;111:1204–12.CrossRefGoogle Scholar
  7. 7.
    Johnson NP, Hummelshoj L, Consortium WESM. Consensus on current management of endometriosis. Hum Reprod. 2013;28:1552–68.CrossRefGoogle Scholar
  8. 8.
    Vercellini P, Giudice LC, Evers JL, Abrao M. Reducing low-value care in endometriosis between limited evidence and unresolved issues: a proposal. Hum Reprod. 2015;30:1996–2004.CrossRefGoogle Scholar
  9. 9.
    Johnson NP, Hummelshoj L, Adamson GD, Keckstein J, Taylor HS, Abrao MS, Bush D, Kiesel L, Tamimi R, Sharpe-Timms KL, Rombauts L. World Endometriosis Society consensus on the classification of endometriosis. Hum Reprod. 2017;32:315–24.CrossRefGoogle Scholar
  10. 10.
    Nisenblat V, Bossuyt PMM, Shaikh R, Arora D, Farquhar C, Jordan V, Scheffers CS, Mol BWJ, Johnson N, Hull ML. Blood biomarkers for the non invasive diagnosis of endometriosis. Cochrane Database Syst Rev. 2016;(5):CD012179. doi: https://doi.org/10.1002/14651858.
  11. 11.
    Bossuyt PMM, Reitsma JB, Linnet K, Moons KGM. Beyond diagnostic accuracy: the clinical utility of diagnostic tests. Clin Chem. 2012;58(12):1636–43.CrossRefGoogle Scholar
  12. 12.
    Giudice LC, Kao LC. Endometriosis. Lancet. 2004;364:1789–99.CrossRefGoogle Scholar
  13. 13.
    Burney RO. The genetics and biochemistry of endometriosis. Curr Opin Obstet Gynecol. 2013;25(4):280–6.CrossRefGoogle Scholar
  14. 14.
    May KE, Conduit-Hulbert SA, Villar J, Kirtley S, Kennedy SH, Becker CM. Peripheral biomarkers of endometriosis: a systematic review. Hum Reprod Update. 2010;16:651–74.CrossRefGoogle Scholar
  15. 15.
    Liu E, Nisenblat V, Farquhar C, Fraser I, Bossuyt PMM, Johnson N, Hull ML. Urinary biomarkers for the non invasive diagnosis of endometriosis. Cochrane Database Syst Rev. 2015;(12):CD012019. doi:  https://doi.org/10.1002/14651858.
  16. 16.
    Mol BW, Bayram N, Lijmer JG, Wiegerinck MA, Bongers MY, van der Veen F, Bossuyt PM. The performance of CA-125 measurement in the detection of endometriosis: a meta-analysis. Fertil Steril. 1998;70(6):1101–8.CrossRefGoogle Scholar
  17. 17.
    Hirsch M, Duffy J, Davis CJ, Nieves Plana M, Khan KS. Diagnostic accuracy of cancer antigen 125 for endometriosis: a systematic review and meta-analysis. BJOG. 2016;123(11):1761–8.CrossRefGoogle Scholar
  18. 18.
    Hirsch M, Duffy JMN, Deguara CS, Davis CJ, Khan KS. Diagnostic accuracy of Cancer Antigen 125 (CA125) for endometriosis in symptomatic women: a multi-center study. Eur J Obstet Gynecol Reprod Biol. 2017;210:102–7.CrossRefGoogle Scholar
  19. 19.
    Chen FP, Soong YK, Lee N, Lo SK. The use of serum CA-125 as a marker for endometriosis in patients with dysmenorrhea for monitoring therapy and for recurrence of endometriosis. Acta Obstet Gynecol Scand. 1998;77(6):665–70.CrossRefGoogle Scholar
  20. 20.
    Agic A, Djalali S, Wolfler MM, Halis G, Diedrich K, Hornung D. Combination of CCR1 mRNA, MCP1, and CA125 measurements in peripheral blood as a diagnostic test for endometriosis. Reprod Sci. 2008;15(9):906–11.CrossRefGoogle Scholar
  21. 21.
    Lanzone A, Marana R, Muscatello R, Fulghesu AM, Dellacqua S, Caruso A, Mancuso S. Serum Ca-125 levels in the diagnosis and management of endometriosis. J Reprod Med. 1991;36(8):603–7.PubMedGoogle Scholar
  22. 22.
    Vouk K, Hevir N, Ribic-Pucelj M, Haarpaintner G, Scherb H, Osredkar J, et al. Discovery of phosphatidylcholines and sphingomyelins as biomarkers for ovarian endometriosis. Hum Reprod. 2012;27(10):2955–65.CrossRefGoogle Scholar
  23. 23.
    Koninckx PR, Meuleman C, Oosterlynck D, Cornillie FJ. Diagnosis of deep endometriosis by clinical examination during menstruation and plasma CA-125 concentration. Fertil Steril. 1996;65(2):280–7.CrossRefGoogle Scholar
  24. 24.
    Vicente-Muñoz S, Morcillo I, Puchades-Carrasco L, Payá V, Pellicer A, Pineda-Lucena A. Pathophysiologic processes have an impact on the plasma metabolomic signature of endometriosis patients. Fertil Steril. 2016;106(7):1733–41.CrossRefGoogle Scholar
  25. 25.
    Letsiou S, Peterse DP, Fassbender A, Hendriks MM, van den Broek NJ, Berger R, O DF, Vanhie A, Vodolazkaia A, Van Langendonckt A, Donnez J, Harms AC, Vreeken RJ, Groothuis PG, Dolmans MM, Brenkman AB, D’Hooghe TM. Endometriosis is associated with aberrant metabolite profiles in plasma. Fertil Steril. 2017;107(3):699–706.CrossRefGoogle Scholar
  26. 26.
    Liu HY, Zheng YH, Zhang JZ, Leng JH, Sun DW, Liu ZF, et al. Establishment of endometriosis diagnostic model using plasma protein profiling. Chung-Hua Fu Chan Ko Tsa Chih [Chinese J Obstet Gynecol]. 2009;44(8):601–4.Google Scholar
  27. 27.
    Seeber B, Sammel MD, Fan X, Gerton GL, Shaunik A, Chittams J, et al. Proteomic analysis of serum yields six candidate proteins that are differentially regulated in a subset of women with endometriosis. Fertil Steril. 2010;93(7):2137–44.CrossRefGoogle Scholar
  28. 28.
    Fassbender A, Waelkens E, Verbeeck N, Kyama CM, Bokor A, Vodolazkaia A, et al. Proteomics analysis of plasma for early diagnosis of endometriosis. Obstet Gynecol. 2012;119(2 Pt 1):276–85.CrossRefGoogle Scholar
  29. 29.
    Wolfler MM, Schwamborn K, Otten D, Hornung D, Liu HY, Rath W. Mass spectrometry and serum pattern profiling for analyzing the individual risk for endometriosis: promising insights? Fertil Steril. 2009;91(6):2331–7.CrossRefGoogle Scholar
  30. 30.
    Jia SZ, Yang Y, Lang J, Sun P, Leng J. Plasma miR-17-5p, miR-20a and miR-22 are down-regulated in women with endometriosis. Hum Reprod. 2013;28(2):322–30.CrossRefGoogle Scholar
  31. 31.
    Wang WT, Zhao YN, Han BW, Hong SJ, Chen YQ, Wang X, et al. Circulating microRNAs identified in a genome-wide serum microRNA expression analysis as noninvasive biomarkers for endometriosis [Study on polymorphism of human leukocyte antigen I in patients with endometriosis]. J Clin Endocrinol Metab. 2013;98(1):281–9.CrossRefGoogle Scholar
  32. 32.
    Cosar E, Mamillapalli R, Ersoy GS, Cho S, Seifer B, Taylor HS. Serum microRNAs as diagnostic markers of endometriosis: a comprehensive array-based analysis. Fertil Steril. 2016;106(2):402–9.CrossRefGoogle Scholar
  33. 33.
    Cho S, Mutlu L, Grechukhina O, Taylor HS. Circulating microRNAs as potential biomarkers for endometriosis. Fertil Steril. 2015;103(5):1252–60.CrossRefGoogle Scholar
  34. 34.
    Wang L, Liu HY, Shi HH, Lang JH, Sun W. Urine peptide patterns for non-invasive diagnosis of endometriosis:a preliminary prospective study. Eur J Obstet Gynecol Reprod Biol. 2014;177:23–8.CrossRefGoogle Scholar
  35. 35.
    Vicente-Muñoz S, Morcillo I, Puchades-Carrasco L, Payá V, Pellicer A, Pineda-Lucena A. Nuclear magnetic resonance metabolomic profiling of urine provides a noninvasive alternative to the identification of biomarkers associated with endometriosis. Fertil Steril. 2015;104(5):1202–9.CrossRefGoogle Scholar
  36. 36.
    Burney RO, Talbi S, Hamilton AE, Kim CV, Nyegaard M, Nezhat CR, et al. Gene expression analysis of endometrium reveals progesterone resistance and candidate susceptibility genes in women with endometriosis. Endocrinology. 2007;148:3814–26.CrossRefGoogle Scholar
  37. 37.
    Kim JJ, Taylor HS, Lu Z, Ladhani O, Hastings JM, Jackson KS, et al. Altered expression of HOXA10 in endometriosis: potential role in decidualization. Mol Hum Reprod. 2007;13:323–32.CrossRefGoogle Scholar
  38. 38.
    Brosens I, Brosens JJ, Benagiano G. The eutopic endometrium in endometriosis: are the changes of clinical significance? Reprod Biomed Online. 2012;24:496–502.CrossRefGoogle Scholar
  39. 39.
    Guo SW. Epigenetics of endometriosis. Mol Hum Reprod. 2009;15:587–607.CrossRefGoogle Scholar
  40. 40.
    Houshdaran S, Nezhat CR, Vo KC, Zelenko Z, Irwin JC, Giudice LC. Aberrant endometrial DNA methylome and associated gene expression in endometriosis. Biol Reprod. 2016;95(5):93.CrossRefGoogle Scholar
  41. 41.
    Bhusane K, Bhutada S, Chaudhari U, Savardekar L, Katkam R, Sachdeva G. Secrets of endometrial receptivity: some are hidden in uterine secretome. Am J Reprod Immunol. 2016;75:226–36.CrossRefGoogle Scholar
  42. 42.
    Gupta D, Hull ML, Fraser I, Miller L, Bossuyt PMM, Johnson N, Farquhar C, Nisenblat V. Endometrial biomarkers for the non invasive diagnosis of endometriosis. Cochrane Database Syst Rev. 2016;(4):CD012165. doi: https://doi.org/10.1002/14651858.
  43. 43.
    Leslie C, Ma T, McElhinney B, Leake R, Stewart CJ. Is the detection of endometrial nerve fibers useful in the diagnosis of endometriosis? Int J Gynecol Pathol. 2013;32(2):149–55.CrossRefGoogle Scholar
  44. 44.
    Cetin C, Serdaroglu H, Tuzali S. The importance of endometrial nerve fibres and macrophage cell count in the diagnosis of endometriosis. Iran J Reprod Med. 2013;11(5):405–14.PubMedPubMedCentralGoogle Scholar
  45. 45.
    Nisenblat V, Bossuyt PMM, Farquhar C, Johnson N, Hull ML. Imaging modalities for the non invasive diagnosis of endometriosis. Cochrane Database Syst Rev. 2016;4:CD009591. doi: https://doi.org/10.1002/14651858.
  46. 46.
    Marasinghe J, Senanayake H, Saravanabhava N, Arambepola C, Condous G, Greenwood P. History, pelvic examination findings and mobility of ovaries as a sonographic marker to detect pelvic adhesions with fixed ovaries. J Obstet Gynaecol Res. 2014;40(3):785–90.CrossRefGoogle Scholar
  47. 47.
    Guerriero S, Ajossa S, Paoletti AM, Mais V, Angiolucci M, Melis GB. Tumour marker and transvaginal ultrasonography in the diagnosis of endometrioma. Obstet Gynaecol. 1996;88(3):403–7.CrossRefGoogle Scholar
  48. 48.
    Bazot M, Lafont C, Rouzier R, Roseau G, Thomassin-Naggara I, Darai E. Diagnostic accuracy of physical examination, transvaginal sonography, rectal endoscopic sonography, and magnetic resonance imaging to diagnose deep infiltrating endometriosis. Fertil Steril. 2009;92(6):1825–33.CrossRefGoogle Scholar
  49. 49.
    Grasso RF, Di Giacomo V, Sedati P, Sizzi O, Florio G, Faiella E, et al. Diagnosis of deep infiltrating endometriosis: accuracy of magnetic resonance imaging and transvaginal 3D ultrasonography. Abdom Imaging. 2010;35(6):716–25.CrossRefGoogle Scholar
  50. 50.
    Guerriero S, Ajossa S, Gerada M, D'Aquila M, Piras B, Melis GB. “Tenderness-guided” transvaginal ultrasonography: a new method for the detection of deep endometriosis in patients with chronic pelvic pain. Fertil Steril. 2007;88:1293–7.CrossRefGoogle Scholar
  51. 51.
    Scarella AC, Devoto LC, Villarroel CQ, Inzunza NP, Quilodrán FR, Sovino HS. Transvaginal ultrasound for preoperative detection of deep endometriosis in patients with chronic pelvic pain [Ultrasonido transvaginal para la detección preoperatoria de endometriosis profunda en pacientes con dolor pélvico crónico]. Rev Chil Obstet Ginecol. 2013;78(2):114–8.CrossRefGoogle Scholar
  52. 52.
    Piessens S, Healey M, Maher P, Tsaltas J, Rombauts L. Can anyone screen for deep infiltrating endometriosis with transvaginal ultrasound? Aust N Z J Obstet Gynaecol. 2014;54(5):462–8.CrossRefGoogle Scholar
  53. 53.
    Hudelist G, English J, Thomas AE, Tinelli A, Singer CF, Keckstein J. Diagnostic accuracy of transvaginal ultrasound for non-invasive diagnosis of bowel endometriosis: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2011;37(3):257–63.CrossRefGoogle Scholar
  54. 54.
    Guerriero S, Ajossa S, Minguez JA, Jurado M, Mais V, Melis GB, Alcazar JL. Accuracy of transvaginal ultrasound for diagnosis of deep endometriosis in uterosacral ligaments, rectovaginal septum, vagina and bladder: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;46:534–45.CrossRefGoogle Scholar
  55. 55.
    Guerriero S, Ajossa S, Orozco R, Perniciano M, Jurado M, Melis GB, Alcazar JL. Accuracy of transvaginal ultrasound for diagnosis of deep endometriosis in the rectosigmoid: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2016;47(3):281–9.CrossRefGoogle Scholar
  56. 56.
    Hudelist G, Oberwinkler KH, Singer CF, Tuttlies F, Rauter G, Ritter O, et al. Combination of transvaginal sonography and clinical examination for preoperative diagnosis of pelvic endometriosis. Hum Reprod. 2009;24(5):1018–24.CrossRefGoogle Scholar
  57. 57.
    Medeiros LR, Rosa MI, Silva BR, Reis ME, Simon CS, Dondossola ER, da Cunha Filho JS. Accuracy of magnetic resonance in deeply infiltrating endometriosis: a systematic review and meta-analysis. Arch Gynecol Obstet. 2015;291(3):611–21.CrossRefGoogle Scholar
  58. 58.
    Saba L, Sulcis R, Melis GB, de Cecco CN, Laghi A, Piga M, et al. Endometriosis: the role of magnetic resonance imaging. Acta Radiol. 2014, 56(3):355–67.CrossRefGoogle Scholar
  59. 59.
    Moore J, Copley S, Morris J, LIndsell D, Golding S, Kennedy S. A systematic review of the accuracy of ultrasound in the diagnosis of endometriosis. Ultrasound Obstet Gynecol. 2002;20:630–4.CrossRefGoogle Scholar
  60. 60.
    Tammaa A, Fritzer N, Strunk G, Krell A, Salzer H, Hudelist G. Learning curve for the detection of pouch of Douglas obliteration and deep infiltrating endometriosis of the rectum. Hum Reprod. 2014;29(6):1199–204.CrossRefGoogle Scholar
  61. 61.
    Rutjes AWS, Reitsma JB, Vandenbroucke JP, Glas AS, Bossuyt PMM. Case–control and two-gate designs in diagnostic accuracy studies. Clin Chem. 2005;51(8):1335–41.CrossRefGoogle Scholar
  62. 62.
    Bossuyt PM, Reitsma JB, Bruns DE, Gatsonis CA, Glasziou PP, Irwig LM, et al. Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. BMJ. 2003;326(7379):41–4.CrossRefGoogle Scholar
  63. 63.
    Whiting PF, Rutjes AW, Westwood ME, Mallett S, Deeks JJ, Reitsma JB, et al., the QUADAS-2 Group. QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann Intern Med. 2011;155(8):529–36.CrossRefGoogle Scholar
  64. 64.
    Fassbender A, Rahmioglu N, Vitonis AF, Vigano P, Giudice LC, D’Hooghe TM, Hummelshoj L, Adamson GD, Becker CM, Missmer SA, Zondervan KT. World Endometriosis Research Foundation Endometriosis Phenome and biobanking harmonization project: IV. Tissue collection, processing, and storage in endometriosis research. Fertil Steril. 2014;102(5):1244–53.CrossRefGoogle Scholar
  65. 65.
    Rahmioglu N, Fassbender A, Vitonis AF, Tworoger SS, Hummelshoj L, D’Hooghe TM, Adamson GD, Giudice LC, Becker CM, Zondervan KR, Missmer SA. World Endometriosis Research Foundation Endometriosis Phenome and biobanking harmonization project: III. Fluid biospecimen collection, processing, and storage in endometriosis research. Fertil Steril. 2014;102(5):1233–43.CrossRefGoogle Scholar
  66. 66.
    Becker CM, Laufer MR, Stratton P, Hummelshoj L, Missmer SA, Zondervan KT, Adamson GD. World Endometriosis Research Foundation Endometriosis Phenome and biobanking harmonization project: I. Surgical phenotype data collection in endometriosis research. Fertil Steril. 2014;102(5):1213–22.CrossRefGoogle Scholar
  67. 67.
    Vitonis AF, Vincent K, Rahmioglu N, Fassbender A, Buck Louis G, Hummelshoj L, Giudice L, Stratton P, Adamson GD, Becker CM, Zondervan KR, Missmer SA. World Endometriosis Research Foundation Endometriosis Phenome and biobanking harmonization project: II. Clinical and covariate phenotype data collection in endometriosis research. Fertil Steril. 2014;102(5):1223–32.CrossRefGoogle Scholar
  68. 68.
    Ahn SH, Singh V, Tayade C. Biomarkers in endometriosis: challenges and opportunities. Fertil Steril. 2017;107(3):523–32.CrossRefGoogle Scholar
  69. 69.
    Nisenblat V, Prentice L, Bossuyt PMM, Farquhar C, Hull ML, Johnson N. Combination of the non-invasive tests for the diagnosis of endometriosis. Cochrane Database Syst Rev. 2016;7:CD012281.doi: https://doi.org/10.1002/14651858.
  70. 70.
    Pusztai L, Hatzis C, Andre F. Nat Rev Clin Oncol. 2013;10:720–4.CrossRefGoogle Scholar
  71. 71.
    Horvath AR, Lord SJ, StJohn A, Sandberg S, Cobbaert CM, Lorenz S, Monaghan PJ, Verhagen-Kamerbeek WD, Ebert C, Bossuyt PM, Test Evaluation Working Group of the European Federation of Clinical Chemistry Laboratory Medicine. From biomarkers to medical tests: the changing landscape of test evaluation. Clin Chim Acta. 2014;427:49–57.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Vicki Nisenblat
    • 1
  • M. Louise Hull
    • 1
  1. 1.Discipline of Obstetrics and Gynaecology, School of MedicineRobinson Research Institute, The University of AdelaideAdelaideAustralia

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