Blood biomarkers for the non-invasive diagnosis of endometriosis

Nisenblat, Vicki; Bossuyt, Patrick M.; Shaikh, Rabia; Farquhar, Cindy; Jordan, Vanessa; Scheffers, Carola S.; Mol, Ben Willem J.; Johnson, Neil; Hull, M. Louise

doi:10.1002/14651858.cd012179

Cited by 221 publications

(242 citation statements)

References 362 publications

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“…Despite the range of blood tests that have been evaluated, a reliable test has yet to be identified for the diagnosis of endometriosis [72, 73]. A change in levels of analytes, proteins, microRNAs, and other markers corresponding to a disease state could be the basis for identifying novel biomarkers.…”

Section: Diagnosis Of Endometriosismentioning

confidence: 99%

Endometriosis: Epidemiology, Diagnosis and Clinical Management

Parasar

Özcan

Terry

2017

Curr Obstet Gynecol Rep

516

384

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Purpose of review Endometriosis is a disease of adolescents and reproductive-aged women characterized by the presence of endometrial tissue outside the uterine cavity and commonly associated with chronic pelvic pain and infertility. Here we review the epidemiology of endometriosis as well as potential biomarkers for detection and with the goal of highlighting risk factors that could be used in combination with biomarkers to identify and treat women with endometriosis earlier.. Recent findings Early age at menarche, shorter menstrual length, and taller height are associated with a higher risk of endometriosis while parity, higher body mass index (BMI) and smoking are associated with decreased risk. Endometriosis often presents as infertility or continued pelvic pain despite treatment with analgesics and cyclic oral contraceptive pills. Summary Despite a range of symptoms, diagnosis of endometriosis is often delayed due to lack of non-invasive, definitive and consistent biomarkers for diagnosis of endometriosis. Hormone therapy and analgesics are used for treatment of symptomatic endometriosis. However, the efficacy of these treatments are limited as endometriosis often recurs. In this review, we describe potential diagnostic biomarkers and risk factors that may be used as early non-invasive in vitro tools for identification of endometriosis to minimize diagnostic delay and improve reproductive health of patients.

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Section: Diagnosis Of Endometriosismentioning

confidence: 99%

Endometriosis: Epidemiology, Diagnosis and Clinical Management

Parasar

Özcan

Terry

2017

Curr Obstet Gynecol Rep

516

384

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“…Consequently, its effective treatment still remains a challenge . So far the quest for novel nonhormonal therapeutics has not been successful, and there is no single biomarker that has unequivocally been shown to be clinically useful in diagnosing endometriosis …”

Section: Introductionmentioning

confidence: 99%

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

Guo

2018

Reprod Medicine & Biology

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BackgroundOne recent study reports cancer driver mutations in deep endometriosis, but its biological/clinical significance remains unclear. Since the natural history of endometriosis is essentially gradual progression toward fibrosis, it is thus hypothesized that the six driver genes reported to be mutated in endometriosis (the RP set) may play important roles in fibrogenesis but not necessarily malignant transformation.MethodsExtensive PubMed search to see whether RP and another set of driver genes not yet reported (NR) to be mutated in endometriosis have any roles in fibrogenesis. All studies reporting on the role of fibrogenesis of the genes in both RP and NR sets were retrieved and evaluated in this review.ResultsAll six RP genes were involved in various aspects of fibrogenesis as compared with only three NR genes. These nine genes can be anchored in networks linking with their upstream and downstream genes that are known to be aberrantly expressed in endometriosis, piecing together seemingly unrelated findings.ConclusionsGiven that somatic driver mutations can and do occur frequently in physiologically normal tissues, it is argued that these mutations in endometriosis are not necessarily synonymous with malignancy or premalignancy, but the result of enormous pressure for fibrogenesis.

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“…CA-125 is the serum biomarker that has been more extensively studied in the diagnosis of endometriosis, but it had not reached its full potential. Other serum markers such as CA19-9, interleukins 6, 8, and 10, and tumor necrosis factor alpha have also already been studied [12,13]. In comparative studies, those markers were not superior to CA-125 in relation to diagnostic performance in endometriosis.…”

Section: Discussionmentioning

confidence: 99%

How to use CA-125 More Effectively in the Diagnosis of Deep Endometriosis?

Raymundo

Oliveira

Soares

et al. 2017

Journal of Minimally Invasive Gynecology

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Deep infiltrative endometriosis (DIE) is a severe form of the disease. The median time interval from the onset of symptoms to diagnosis of endometriosis is around 8 years. In this prospective study patients were divided into two groups: cases (34 DIE patients) and control (20 tubal ligation patients). The main objective of this study was to evaluate the performance of CA-125 measurement in the menstrual and midcycle phases of the cycle, as well as the difference in its levels between the two phases, for the early diagnosis of DIE. Area Under the Curve (AUC) of CA-125 in menstrual phase and of the difference between menstrual and midcycle phases had the best performance (both with AUC = 0.96), followed by CA-125 in the midcycle (AUC = 0.89). The ratio between menstrual and midcycle phases had the worst performance. CA-125 may be useful for the diagnosis of deep endometriosis, especially when both are collected during menstruation and in midcycle. These may help to decrease the long interval until the definitive diagnosis of DIE. Multicentric studies with larger samples should be performed to better evaluate the cost-effectiveness of measuring CA-125 in two different phases of the menstrual cycle.

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Blood biomarkers for the non-invasive diagnosis of endometriosis

Cited by 221 publications

References 362 publications

Endometriosis: Epidemiology, Diagnosis and Clinical Management

Endometriosis: Epidemiology, Diagnosis and Clinical Management

Cancer driver mutations in endometriosis: Variations on the major theme of fibrogenesis

How to use CA-125 More Effectively in the Diagnosis of Deep Endometriosis?

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