Endometrium Archives - Revista Brasileira de Ginecologia e Obstetrícia

  • Case Report

    Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis

    Revista Brasileira de Ginecologia e Obstetrícia. 2024;46:e-rbgo12

    Summary

    Case Report

    Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis

    Revista Brasileira de Ginecologia e Obstetrícia. 2024;46:e-rbgo12

    DOI 10.61622/rbgo/2024CR12

    Views251

    Abstract

    Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two sisters with familial endometriosis, which contain genes that may increase the susceptibility and progression of this disease. We investigated the presence of CNVs from the endometrium and blood of the sisters with endometriosis and normal endometrium of five women as controls without the disease using array-CGH through the Agilent 2x400K platform. We excluded common CNVs that were present in the database of genomic variation. We identified, in both sisters, a rare CNV gain affecting 113kb at band 3q12.2 involving two candidate genes: ADGRG7 and TFG. The CNV gain was validated by qPCR. ADGRG7 is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaβ pathway. TFG participates in chromosomal translocations associated with hematologic tumor and soft tissue sarcomas, and is also involved in the NF-kappa B pathway. The CNV gain in this family provides a new candidate genetic marker for future familial endometriosis studies. Additional longitudinal studies of affected families must confirm any associations between this rare CNV gain and genes involved in the NF-kappaβ pathway in predisposition to endometriosis.

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    Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis
  • Review Article

    Sentinel Lymph Node Biopsy in Endometrial Cancer – A Systematic Review and Quality Assessment of Meta-Analyses

    Revista Brasileira de Ginecologia e Obstetrícia. 2022;44(8):785-789

    Summary

    Review Article

    Sentinel Lymph Node Biopsy in Endometrial Cancer – A Systematic Review and Quality Assessment of Meta-Analyses

    Revista Brasileira de Ginecologia e Obstetrícia. 2022;44(8):785-789

    DOI 10.1055/s-0042-1749067

    Views9

    Abstract

    Objective

    To assess the quality of recent meta-analyses reviewing the diagnostic utility of sentinel node biopsy in endometrial cancer.

    Methods

    With the MeSH terms endometrial neoplasms and sentinel lymph node biopsy, PubMed and Embase databases were searched on October 21, 2020, and again on November 10, 2021, with meta-analysis and publication date filters set to since 2015. The articles included were classified with the A Measurement Tool to Assess Systematic Reviews (AMSTAR 2) assessment tool.

    Results

    The database searches found 17, 7 of which, after the screening, were selected for full review by the author, finally extracting six meta-analyzes for quality analysis. The rating with the AMSTAR 2 assessment tool found that overall confidence in their results was critically low.

    Conclusion

    This study found that the quality of recent meta-analyses on the utility of the staging of endometrial cancer with sentinel node biopsy, evaluated by the AMSTAR 2 assessment tool, is classified as critically low, and, therefore, these meta-analyses are not reliable in the summary of their studies.

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    Sentinel Lymph Node Biopsy in Endometrial Cancer – A Systematic Review and Quality Assessment of Meta-Analyses
  • Case Report

    Endometrial Tuberculosis: Hysteroscopic Findings of a Clinical Case

    Revista Brasileira de Ginecologia e Obstetrícia. 2019;41(6):409-411

    Summary

    Case Report

    Endometrial Tuberculosis: Hysteroscopic Findings of a Clinical Case

    Revista Brasileira de Ginecologia e Obstetrícia. 2019;41(6):409-411

    DOI 10.1055/s-0039-1692634

    Views13

    Abstract

    Endometrial tuberculosis is a rare diagnosis in the postmenopausal period, and it can mimic a carcinoma. The present article describes the case of a 54-year-old female patient with weight loss, abdominal pain, and ascites. An ultrasonography showed endometrial thickening, and a video hysteroscopy revealed a uterine cavity with formations with cotton aspect covering the entire endometrial surface and the tubal ostia. An anatomopathological evaluation diagnosed endometrial tuberculosis. The treatment was with a standardized therapeutic scheme (ethambutol, isoniazid, pyrazinamide and rifampicin), and the patient evolved with clinical improvement and normal uterine cavity at hysteroscopy. Considering the lack of pathognomonic hysteroscopic findings of the disorder, it is important to disclose the images of the case.

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    Endometrial Tuberculosis: Hysteroscopic Findings of a Clinical Case
  • Case Report

    Brain Metastasis in Papillary Serous Adenocarcinoma of the Endometrium

    Revista Brasileira de Ginecologia e Obstetrícia. 2019;41(4):264-267

    Summary

    Case Report

    Brain Metastasis in Papillary Serous Adenocarcinoma of the Endometrium

    Revista Brasileira de Ginecologia e Obstetrícia. 2019;41(4):264-267

    DOI 10.1055/s-0039-1683353

    Views6

    Abstract

    Background

    Most endometrial cancers (75%) are diagnosed in early stages (stages I and II), in which abnormal uterine bleeding is the most frequent clinical sign.When the diagnosis is performed in stage IV, the most common sites of metastasis are the lungs, liver and bones. Central nervous system (CNS)metastasis is a rare condition. The aim of this study is to describe a case of uterine papillary serous adenocarcinoma of the endometrium that progressed to brain and bone metastases.

    Case Report

    We present the case of a 56-year-old woman with abnormal uterine bleeding and endometrial thickened echo (1.8 cm). A hysteroscopy with biopsy was performed, which identified poor differentiated serous adenocarcinoma of the endometrium. A total abdominal hysterectomy, with pelvic and para-aortic lymphadenectomy, was performed. Analysis of the surgical specimen revealed a grade III uterine papillary serous adenocarcinoma. Adjuvant radio/chemotherapy (carboplatin and paclitaxel-six cycles) was indicated. Sixteen months after the surgery, the patient began to complain of headaches. Brain magnetic resonance imaging demonstrated an expansile mass in the right parietal lobe, suggesting a secondary hematogenous implant subsequently confirmed by biopsy. She underwent surgery for treatment of brain metastasis, followed by radiotherapy. She died 12 months after the brain metastasis diagnosis due to disease progression.

    Conclusion

    Uterine papillary serous adenocarcinoma of the endometrium has a low propensity to metastasize to the brain. To the best of our knowledge, this is the fifth documented case of uterine papillary serous adenocarcinoma of the endometrium with metastasis to the CNS.

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    Brain Metastasis in Papillary Serous Adenocarcinoma of the Endometrium
  • Artigos Originais

    Predictive factors for occurrence of endometrial polyps in postmenopausal women

    Revista Brasileira de Ginecologia e Obstetrícia. 2014;36(11):489-496

    Summary

    Artigos Originais

    Predictive factors for occurrence of endometrial polyps in postmenopausal women

    Revista Brasileira de Ginecologia e Obstetrícia. 2014;36(11):489-496

    DOI 10.1590/S0100-720320140005090

    Views4

    PURPOSE:

    To evaluate the predictive clinical factors for the development of endometrial polyps in postmenopausal women.

    METHODS:

    Observational cohort study with postmenopausal women who had been at a public university hospital. Clinical, anthropometrical, laboratorial, and ultrasonographic data of 132 patients with a histopathological diagnosis of endometrial polyps and 264 women without endometrial alterations (control) were compared in order to evaluate the predictive factors of endometrial polyps. Women with amenorrhea ≥12 months and ≥45 years of age were included in the study at a proportion of 1 case for 2 controls. The Student's t, χ2, and logistic regression tests were used for statistical analysis – odds ratio (OR).

    RESULTS:

    Patients with endometrial polyps were older and had been in menopause for a longer time compared to control (p<0.0001). The percentage of obese women with polyps (72.0%) was higher compared to the Control Group (39%; p<0.0001). The measurement of waist circumference was superior among patients with polyps (p=0.0001). We observed a higher incidence of diabetes, hypertension and dyslipidemia in patients with endometrial polyps (p<0.0001). According to the US National Cholesterol Education Program/Adult Treatment Panel III (NCEP/ATP III) criteria, 48.5% of women with polyps and 33.3% of the Control Group were classified as having metabolic syndrome (p=0.004). Analysis of risk for endometrial polyps formation showed higher chances of occurrence of the disorder in patients with: BMI≥25 kg/m2 (OR=4.6; 95%CI 2.1–10.0); glucose ≥100 mg/dL (OR=2.8; 95%CI 1.3–5.9); dyslipidemia (OR=7.0; 95%CI 3.7–13.3); diabetes (OR=2.5; 95%CI 1.0–6.3), and metabolic syndrome (OR=2.7; 95%CI 1.1–6.4) compared to the Control Group.

    CONCLUSION:

    In postmenopausal women, obesity, dyslipidemia, hyperglycemia and presence of metabolic syndrome were predictive factors for the development of endometrial polyps.

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    Predictive factors for occurrence of endometrial polyps in postmenopausal women
  • Original Articles

    Accuracy of sonography and hysteroscopy in the diagnosis of premalignant and malignant polyps in postmenopausal women

    Revista Brasileira de Ginecologia e Obstetrícia. 2013;35(6):243-248

    Summary

    Original Articles

    Accuracy of sonography and hysteroscopy in the diagnosis of premalignant and malignant polyps in postmenopausal women

    Revista Brasileira de Ginecologia e Obstetrícia. 2013;35(6):243-248

    DOI 10.1590/S0100-72032013000600002

    Views10

    PURPOSE: To evaluate the accuracy of sonographic endometrial thickness and hysteroscopic characteristics in predicting malignancy in postmenopausal women undergoing surgical resection of endometrial polyps. METHODS: Five hundred twenty-one (521) postmenopausal women undergoing hysteroscopic resection of endometrial polyps between January 1998 and December 2008 were studied. For each value of sonographic endometrial thickness and polyp size on hysteroscopy, the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated in relation to the histologic diagnosis of malignancy. The best values of sensitivity and specificity for the diagnosis of malignancy were determined by the Receiver Operating Characteristic (ROC) curve. RESULTS: Histologic diagnosis identified the presence of premalignancy or malignancy in 4.1% of cases. Sonographic measurement revealed a greater endometrial thickness in cases of malignant polyps when compared to benign and premalignant polyps. On surgical hysteroscopy, malignant endometrial polyps were also larger. An endometrial thickness of 13 mm showed a sensitivity of 69.6%, specificity of 68.5%, PPV of 9.3%, and NPV of 98% in predicting malignancy in endometrial polyps. Polyp measurement by hysteroscopy showed that for polyps 30 mm in size, the sensitivity was 47.8%, specificity was 66.1%, PPV was 6.1%, and NPV was 96.5% for predicting cancer. CONCLUSIONS: Sonographic endometrial thickness showed a higher level of accuracy than hysteroscopic measurement in predicting malignancy in endometrial polyps. Despite this, both techniques showed low accuracy for predicting malignancy in endometrial polyps in postmenopausal women. In suspected cases, histologic evaluation is necessary to exclude malignancy.

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    Accuracy of sonography and hysteroscopy in the diagnosis of premalignant and malignant polyps in postmenopausal women
  • Article

    Can endometrial arylsulfatase A activity predict the onset of endometrial polyps over the years?

    Revista Brasileira de Ginecologia e Obstetrícia. 2013;35(1):05-09

    Summary

    Article

    Can endometrial arylsulfatase A activity predict the onset of endometrial polyps over the years?

    Revista Brasileira de Ginecologia e Obstetrícia. 2013;35(1):05-09

    DOI 10.1590/S0100-72032013000100002

    Views8

    PURPOSE: To assess if arylsulfatase A activity (ASA) and sulfatide (SL) concentration in the human endometrium can be predictive of the development of endometrial polyps over the years, since ASA activity reflects the endometrial sensitivity to hormones. METHODS: ASA activity and SL concentration were determined by biochemical procedures on endometrial samples collected between 1990 and 1994 in non-menopausal women. These women underwent a new endometrial sampling following the clinical indication some years after the first endometrial sampling. The histological assessment of the second endometrial specimens found four patients with normal endometrial pattern and 10 patients with one or more endometrial polyps. ASA activity/years elapsed and SL concentration/years elapsed were compared using two tailed Mann-Whitney test for unpaired data between patients with normal pattern and patients with endometrial polyps. RESULTS: Median ASA activities were 2.62 (normal pattern) versus 1.85 (endometrial polyps) nmol hydrolized substrate/min. Median activity/years elapsed is higher in patients with second endometrial sample presenting normal pattern (p=0.006) and median SL concentration/years elapsed does not differ significantly among groups, even if median SL concentration seems to be higher in patients who subsequently developed polyps (1031 µg/g of fresh tissue versus 341,5 µg/g of fresh tissue). CONCLUSIONS: ASA activity can predict the onset of endometrial polyps over the years.

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    Can endometrial arylsulfatase A activity predict the onset of endometrial polyps over the years?
  • Artigos Originais

    Sonohysterography accuracy versus transvaginal ultrasound in infertile women candidate to assisted reproduction techniques

    Revista Brasileira de Ginecologia e Obstetrícia. 2012;34(3):122-127

    Summary

    Artigos Originais

    Sonohysterography accuracy versus transvaginal ultrasound in infertile women candidate to assisted reproduction techniques

    Revista Brasileira de Ginecologia e Obstetrícia. 2012;34(3):122-127

    DOI 10.1590/S0100-72032012000300006

    Views6

    PURPOSE: To compare the diagnostic accuracy of sonohysterography (HSN) and conventional transvaginal ultrasound (USG) in assessing the uterine cavity of infertile women candidate to assisted reproduction techniques (ART). METHODS: Comparative cross-sectional study with 120 infertile women candidate to ART, assisted at Centro de Reprodução Assistida (CRA) of Hospital Regional da Asa Sul (HRAS), Brasília - DF, from August 2009 to November 2010. Sonohysterography was performed with saline solution infusion in a close system. The sonohysterography finding was compared to previous USG results. The uterine cavity was considered abnormal when the endometrium was found to be thicker than expected during the menstrual cycle and when an endometrial polyp, a submucous myoma and an abnormal shape of the uterine cavity were observed. The statistical analysis was done using absolute frequencies, percentage values and the χ², with the level of significance set at 5%. RESULTS: HSN revealed that 92 (76.7%) infertile women candidate to ART had a normal uterine cavity, while 28 (23.3%) had the following abnormalities: 15 polyps (12.5%), 9 cases of abnormal shape of the uterine cavity (7.5%), 6 submucous myomas (5%), 4 cases of inadequate endometrial thickness for the menstrual cycle phase (3.3%), and 2 cases of uterine septum (1.7%); 5 women presented more than one abnormality (4.2%). While USG showed alteration in the cavity only in 5 (4.2%) women, the sonohysterography confirmed 4 out of the 5 abnormalities shown by USG and detected an abnormal uterine cavity in 24 other women, who had not been detected by USG. This means that sonohysterography was able to detect more abnormalities in the uterine cavity than USG, with a statistically significant difference (p=0.002). CONCLUSION: The sonohysterography was more accurate than USG in the assessment of the uterine cavity of this cohort of infertile women candidate to ART. The sonohysterography can be easily incorporated into the investigation of these women and contribute to reducing embryo implantation failures.

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