Evaluation of HLA-DQ2 and HLA-DQ8 haplotypes in patients with endometriosis, A case-control study

Abstract Objective To evaluate the relationship between genetic haplotypes associated with celiac disease (Human Leucocyte Antigen [HLA] DQ2 and DQ8) with the diagnosis, clinical presentation, and location of endometriosis in Brazilian women. Method A retrospective cross-sectional study, was conducted in a Tertiary hospital. Patients Women aged 18-50 years who underwent HLA-DQ2 and HLA-DQ8 haplotype analysis. Intervention The patients were divided into endometriosis and control groups and evaluated for symptoms; endometriosis location, American Society for Reproductive Medicine (ASRM) stage, and the presence of anti-tissue transglutaminase IgA (anti-TgA), HLA-DQ2, and HLA-DQ8 markers. Results A total of 434 consecutive patients with (n = 315) and without (n = 119) endometriosis were included. Pain and infertility were more frequent in the endometriosis group than in the control group. The presence of HLA-DQ2, HLA-DQ8, and anti-TgA was similar between both groups. The presence of HLA-DQ2 and HLA-DQ8 markers did not differ based on age, pain symptoms, ASRM stage, or endometriosis location. Conclusion Although there are similarities in inflammatory markers and pathophysiology between celiac disease and endometriosis, this study found no significant associations in the presence of HLA-DQ2 or HLA-DQ8 haplotypes and endometriosis.

Systematic evaluation of endometriosis by transvaginal ultrasound can accurately replace diagnostic laparoscopy, mainly for deep and ovarian endometriosis.

STUDY QUESTION: What is the sensitivity and the specificity of preoperative transvaginal ultrasound with bowel preparation (TVUS-BP) compared to diagnostic laparoscopy (DL) for the identification of ovarian and deep sites of endometriosis? SUMMARY ANSWER: DL was able to detect retrocervical, ovarian, and bladder endometriosis with similar sensitivity and specificity as TVUS-BP, whereas for vaginal and rectosigmoid endometriosis, DL had lower sensitivity and specificity than TVUS-BP. WHAT IS KNOWN ALREADY: TVUS-BP is a non-invasive examination with good accuracy for diagnosing ovarian and deep endometriosis. DL is expensive and can lead to surgical complications. STUDY DESIGN, SIZE, DURATION: This prospective study included a total of 120 consecutive patients who underwent surgery for suspected endometriosis with preoperative imaging (TVUS-BP), including a video of the laparoscopic procedure, between March 2017 and September 2019. PARTICIPANTS/MATERIALS, SETTING, METHODS: Two radiologists performed preoperative TVUS-BP using the same protocol for diagnosing endometriosis. Two surgeons, who were blinded to the results of the preoperative imaging and clinical data, reviewed the surgical videos from the entry of the abdominal cavity until the surgeon finalized a complete and systematic review prior to beginning any dissection (considered as a DL). A data sheet was used by surgeons and radiologists to record the sites and size of disease involvement, the American Society for Reproductive Medicine (ASRM) stage, and the Enzian score. The surgical visualization of endometriosis lesions that were confirmed by histological analysis was the gold standard. MAIN RESULTS AND THE ROLE OF CHANCE: DL was able to detect retrocervical, ovarian, and bladder endometriosis with similar sensitivity and specificity as TVUS-BP. DL was not able to detect vaginal endometriosis (sensitivity and specificity 0%): this is compared to a sensitivity and specificity of 85.7% and 99.1%, respectively with the utilization of a preoperative TVUS-BP. In addition, DL was notably poor at detecting rectosigmoid endometriosis, with a sensitivity of 3.7-5.6%, and this compares to 96.3% sensitivity with utilization of a preoperative TVUS (P < 0.001). For the ASRM stage, TVUS-BP results were highly correlated with the degree of endometriosis and pouch of Douglas (POD) obliteration (weighted Kappa of 0.867 and 0.985, respectively). For the Enzian score, there was a substantial correlation between TVUSP-BP and DL for compartment A (weighted Kappa = 0.827), compartment B (weighted Kappa = 0.670), and compartment C (weighted kappa = 0.814). LIMITATIONS, REASONS FOR CAUTION: The number of participants included may be a limitation in this study and, as the evaluators were blinded to the physical exam, the DL accuracy could be underestimated. As biopsies of pelvic organs were obtained only if there was a suspicion of endometriosis, the gold standard was not always applicable. This aspect could underestimate the prevalence of lesions and overestimate the sensitivity and the specificity of both the TVUS-BP and the DL. WIDER IMPLICATIONS OF THE FINDINGS: Preoperative TVUS-BP was accurate in identifying all sites of ovarian and deep endometriosis that were evaluated. It had significantly higher sensitivity than DL in detecting rectosigmoid endometriosis and predicting intraoperative ASRM staging and the Enzian score. These results suggest that TVUS-BP can replace DL for the diagnosis and treatment planning for patients with ovarian and deep endometriosis. STUDY FUNDING/COMPETING INTEREST(S): The authors declare no source of funding or conflicts of interest. TRIAL REGISTRATION NUMBER: N/A.

Trocar in conventional laparoscopic and robotic-assisted surgery as a major cause of iatrogenic trauma to the patient.

All laparoscopic procedures, laparoscopic or robotic-assisted, start with a trocar entry. Unfortunately unknown to most, this is an extremely important part of the surgery, as 80% of major vascular injuries and 50% of intestinal injuries occur during this procedure. Laparoscopic first entry is often delegated to trainees with little experience, wrongly assuming that laparoscopic entry is similar to incisional entry at laparotomy. This may result in patient death (mortality of major vascular injuries is 11% and unrecognized intestinal injuries is 5%) or significant temporary or permanent morbidity.

Lymphadenectomy in early stage endometrial cancer: a critical review of the current literature.

To date there has been no consensus on the exact oncological importance of systematic lymphadenectomy in early stage endometrial cancer. In this scenario, the balance between potential therapeutic benefit and procedure-related morbidity plays a central role in the indication for the procedure since the likelihood of detecting a metastatic node is relatively low. Compared with laparotomy, laparoscopic lymphadenectomy has several clearly demonstrated advantages and is an important tool to reduce morbidity. Additionally, many authors have developed less invasive methods to selectively identify patients who are at increased risk of lymph node involvement. This paper aims to review the current literature evidence and guidelines regarding the role of lymphadenectomy in patients with early stage endometrial cancer. Alternatives such as lymphatic sampling or sentinel lymph node biopsy are possible solutions but must be further investigated through more comprehensive studies.

Cellular, histologic, and molecular changes associated with endometriosis and ovarian cancer.

Our understanding of the pathogenesis of endometriosis is rapidly evolving as early molecular events are increasingly identified. Endometriosis is associated with increased risk of ovarian cancer and exhibits neoplastic phenotypes including invasion of stromal tissue and lymphatic spread to distant organs. This review of the literature establishes the clinical, epidemiologic, and pathologic correlation between endometriosis and low-grade ovarian cancer. Genetic studies have demonstrated that endometriotic lesions have mutations in genes directly related to neoplasms, in particular the p53, KRAS, PTEN, and ARID1A genes, which suggests a direct transition from a subset of endometriotic lesions to invasive carcinomas. The identification of both genetic and epigenetic biomarkers including microRNAs are essential for identifying patients at risk for the transition to neoplasia.