Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

OBJECTIVES: To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS). METHODS: A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department. RESULTS: The median gestational age at diagnosis decreased from 15 weeks in 2006 to 13 weeks in 2020 (- 0.21 per each year; p = 0.009). In 103 fetuses, the defects were limited to the neural tube (NTD) (74.1%), in 36 fetuses (25.9%), there were additional structural non-NTD anomalies. The most common were ventral body wall defects present in 17.8% (23/139), followed by anomalies of the limbs (7.2%; 10/139), face (6.5%; 9/139) and heart (6.5%; 9/139). Genetic anomalies were diagnosed in 7 of the 74 conclusive results (9.5%; 7/74; trisomy 18, n = 5; triploidy, n = 1; duplication of Xq, n = 1). In univariate logistic regression models, male sex, limb anomalies and ventral body wall defects significantly increased the risk of genetic anomalies (OR 12.3; p = 0.024; OR 16.5; p = 0.002 and OR 10.4; p = 0.009, respectively). CONCLUSIONS: A significant number of fetuses with AEAS have additional structural non-NTD anomalies, which are mostly consistent with limb body wall complex. Genetic abnormalities are diagnosed in almost 10% of affected fetuses and trisomy 18 is the most common aberration. Factors that significantly increased the odds of genetic anomalies in fetuses with AEAS comprise male sex, limb anomalies and ventral body wall defects.

Pulmonary blastoma in a pregnant woman: a case report and brief review of the literature.

BACKGROUND: Pulmonary blastoma (PB) comprises a rare heterogeneous group of lung tumours typically containing immature epithelial and mesenchymal structures that imitate the embryonic lung tissue and extremely rarely occurs during pregnancy. Although cough and haemoptysis are the most common PB symptoms, they usually indicate other serious pregnancy-related complications. CASE PRESENTATION: The article presents the unusual case of a 22-year-old pregnant woman diagnosed with PB during pregnancy. CONCLUSIONS: PB is characterized by poor prognosis and patients' outcome relies on a rapid diagnosis. Surgery remains the most common and effective treatment. Due to the extreme rarity, the literature contains only single mentions of PB in pregnancy, thus its impact on the course of pregnancy and the developing fetus remains unknown.

Cervical Cancer Prevention in the Era of the COVID-19 Pandemic.

Background and Objectives: Cervical cancer (CC) is the fourth most common cause of cancer-related morbidity and mortality among women worldwide. CC prevention is based on screening and HPV vaccination. The COVID-19 pandemic has caused difficulties in implementing CC-preventative measures. The aim of this study was to collect data on the implementation of CC prophylaxis in Poland provided by public and private health care with a particular focus on the impact of the COVID-19 pandemic and attempt to estimate the level of CC-screening implementation by 2026 under public and private health care. Materials and Methods: Data on the implementation of privately funded (2016-2021) and publicly funded (2014-2021) CC-preventative measures in Poland were examined. The Prophet algorithm, which positions itself as an automatic forecasting procedure and represents a local Bayesian structural time-series model, was used to predict data. The correlation test statistic was based on Pearson's product moment correlation coefficient and follows a t distribution. An asymptotic confidence interval was given based on Fisher's Z transform. Results: In 2021, a significantly higher population screening coverage was observed in private health care (71.91%) than in the public system (12.6%). Our estimation assumes that the adverse downward trend of population coverage (pap smear CC screening) in the public system will continue to 5.02% and in the private health system to 67.92% in 2026. Correlation analysis showed that with the increase in the sum of HPV tests and LBC, the percentage of Pap smear coverage in the private healthcare sector decreases r = -0.62, p = 0.260 df = 3, CI = [-0.97, 0.57]. The amount of HPV vaccinations provided in private health care is steadily increasing. Immunization coverage of the population of girls aged 9-18 years under private health care at the end of the observation period was 4.3% (2021). Conclusions: It is necessary to reorganize the public CC-screening system in Poland based on a uniform reporting system for tests performed in both public and private health care using the model of action proposed by us. We recommend the introduction of a national free HPV vaccination program funded by the government and implemented in public and private health care facilities.

Triploid pregnancy-Clinical implications.

Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%-2% of all conceptions. The majority of cases is miscarried at early developmental stages. In consequence of genomic imprinting, parental origin affects the phenotype of triploid pregnancies as well as the prevalence and spectrum of related maternal complications. Distinctive ultrasound features of both triploid phenotypes as well as characteristic patterns of biochemical markers may be useful in diagnosis. Molecular confirmation of the parental origin allows to predict the risk of complications, such as gestational trophoblastic neoplasia, hyperthyroidism, hypertension, or preeclampsia associated with the paternal origin of triploidy. Diagnosis of partial hydatidiform mole associated with diandric triploidy is challenging especially in the first trimester pregnancy loss due to the limitations of both histopathology and ultrasound. We present important clinical aspects of triploid pregnancies and indicate unresolved issues demanding further studies.

Distribution of diandric and digynic triploidy depending on gestational age.

PURPOSE: To establish the distribution of diandric and digynic triploidy depending on gestational age. METHODS: 107 triploid samples tested prospectively in a single genetic department during a four-year period were analyzed for parental origin of triploidy by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) (n=95) with the use of matching parental samples or by MS-MLPA (n=12), when parental samples were unavailable. Tested pregnancies were divided into three subgroups with regard to the gestational age at spontaneous pregnancy loss: <11 gestational weeks, 11-14 gestational weeks, and >14 gestational weeks. RESULTS: Diandric triploidy constituted overall 44.9% (46.5% in samples miscarried <11 gestational weeks, 64.3% in samples miscarried between 11 and 14 gestational weeks, and 27.8% in pregnancies which survived >14 gestational weeks). CONCLUSIONS: The distribution of diandric and digynic triploidy depends on gestational age. The majority of diandric triploid pregnancies is lost in the first trimester of pregnancy. In the second trimester, diandric cases are at least twice less frequent than digynic ones.

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy.

Triploidy is a genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric) or maternal (digynic) origin. Diandric cases, opposite to digynic ones, may lead to gestational trophoblastic neoplasia (GTN) or generate maternal complications, therefore their identification is crucial, but reproducibility of traditionally used histopathological assessment is poor. The aim of the study was to analyse the usefulness of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) with probes for two differentially methylated regions (DMR) at chromosome 11p.15.5 for identification of the parental origin of triploidy. 84 triploid DNA samples were tested with MS-MLPA: 34 paternal cases (40.5%) and 50 maternal ones (59.5%) according to the reference results of QF-PCR. Methylation ratio (MR) was calculated. Reference values proposed by the MRC-Holland for diploid samples (MR 0.8-1.2) were used. The values outside these ranges were used to diagnose parental origin of triploidy-paternal (MR > 1.2) or maternal (MR < 0.8). The effectiveness of MS-MLPA was 94.0%. The mean MR in paternal triploidy was 1.7 (SD-0.25; n = 34) compared with 0.56 in maternal triploidy (SD-0.12; n = 50). MR values in paternal and maternal triploidy did not overlap. In five samples (6.0%) parental origin of triploidy could not be accurately established by MS-MLPA, probably due to the maternal cell contamination (MCC). MS-MLPA can be used as a convenient method for distinguishing between paternal and maternal triploidy without the necessity for parental samples testing. It enables adequate selection of the paternal triploid cases for follow up in order to exclude post-molar GTN.

Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.

OBJECTIVES: To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele. METHODS: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele. RESULTS: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb-body wall complex, in five with Meckel-Gruber syndrome, and in one with amniotic band syndrome. Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A). Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2/8) with 0% intact survival. CONCLUSIONS: Additional structural anomalies are common in fetuses with cephalocele. A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival.

In-house genetic counseling increases the detection of abnormal karyotypes-a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland.

PURPOSE: To evaluate the trends in prenatal diagnosis over 26 years in a tertiary referral hospital. METHODS: A retrospective analysis of invasive prenatal procedures performed between 1991 and 2016. Maternal characteristics, indications for invasive diagnosis, and percentage of abnormal karyotypes were compared between periods according to guidelines implemented nationally and locally. RESULTS: A total of 14,302 invasive prenatal procedures were performed. The proportion of invasive procedures performed for advanced maternal age, abnormal karyotype in a previous pregnancy, and maternal anxiety decreased from 71.1%, 17.8%, 8.9% in 1991 to 23.9%, 1.3%, and 2.3% in 2016 (OR 0.6, 0.8, and 0.9 for each 5 years, respectively; p < 0.001), while the proportion of invasive procedures performed for abnormal ultrasound increased from 2.2% in 1991 to 51.6% in 2016 (OR 1.9 for each 5 years; p < 0.001). Abnormal karyotype was found in 9.7%. The proportion of abnormal karyotypes increased significantly from 0.0% in 1991 to 15.7% in 2016 (OR 1.35 for each 5-year period; p < 0.001). The odds of abnormal karyotype increased after the implementation of the Ordinance of the Minister of Health in 2003 (OR 1.6), the National Prenatal Screening Program in 2007 (OR 2.2), and the in-house genetic counseling with combined first trimester screening in 2015 (OR 3.1). CONCLUSIONS: Significant changes in prenatal diagnosis led to a better selection of patients undergoing invasive prenatal procedures. The implementation of in-house genetic counseling was associated with an increased rate of the detection of abnormal karyotypes.

The association between lymph node metastases and long-term survival in patients with epithelial ovarian cancer.

INTRODUCTION: A key survival prognosis factor for patients treated for ovarian cancer is complete cytoreductive surgery where all macroscopic neoplastic implants, including enlarged metastatic lymph nodes, are removed. We presume that investigating the involvement of the lymphatic system can result in a more individualized approach to the treatment of ovarian cancer patients. The main aim of our study was to analyze the relationship between the presence, number and types of lymph node metastases and ovarian cancer patient prognosis. MATERIAL AND METHODS: We carried out a retrospective analysis of patients who underwent cytoreduction due to primary ovarian cancer, between 2010 and 2015. We analyzed the number of metastatic lymph nodes, the lymph node ratio defined as the ratio of the number of metastatic lymph nodes to the total number of lymph nodes removed, extracapsular involvement, and the histopathological pattern of metastases. RESULTS: The study group included 651 patients. Of these, 377 had lymphadenectomy, 144 presented with lymph node metastases, and 233 had no lymph node metastases. We also included a group of 274 patients who did not have lymphadenectomy. Patients with more than 4 metastatic lymph nodes and a lymph node ratio of ≥ 0.1 had significantly poorer overall survival. Extracapsular involvement had no relation to patient overall survival. Multivariant survival analysis indicated that a lymph node ratio of ≥ 0.1 was an independent predictor of poor survival. CONCLUSIONS: The analysis of lymph node metastases in ovarian cancer patients can have predictive value for patient overall survival.

Pipelle biopsy and dilatation and curettage in clinical practice: are factors affecting their effectiveness the same?

AIM: Endometrial biopsy is one of the most commonly performed gynecological procedures. Apart from patient safety, the most important is to obtain an adequate specimen allowing histopathological diagnosis. The aim of the study was to determine the rate of endometrial sampling failure and factors affecting the quality of specimen obtained for histopathological examination among patients who underwent Pipelle biopsy and dilatation and curettage (D&C). METHODS: Patients who underwent endometrial biopsy (Pipelle, D&C) at the 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, between June 2013 and July 2017, were included in the study. The influence of menopausal status, body mass index, obstetric history, endometrial thickness, indications for the biopsy and doctors' experience were analyzed with regard to the effectiveness of the procedure. RESULTS: Overall, 895 endometrial sampling procedures were performed. Three hundred and thirty-nine (37.9%) patients underwent Pipelle biopsy, while 556 (62.1%) had D&C. Insufficient samples were found in 60 (17.3%) and 88 (15.8%) patients, respectively. Age, menopausal status and indications were factors affecting both procedures, while the number of previous vaginal deliveries, body mass index and endometrial thickness influenced the effectiveness of Pipelle biopsy. Doctors' experience did not influence the specimen adequacy. CONCLUSION: None of the methods guarantee obtaining adequate specimens. D&C might be preferred in postmenopausal women. The effectiveness of both procedures is independent of doctors' experience.

Carcionoid of the appendix in pregnant woman - case report and literature review.

Neuroendocrine neoplasms are detected very rarely in pregnant women. The following is a case report of carcinoid tumor of the appendix diagnosed in 28 year-old woman at 25th week of gestation. The woman delivered spontaneously a healthy baby at the 38th week of gestation. She did not require adjuvant therapy with somatostatin analogues. The patient remained in remission. There are not established standards of care due to the very rare incidence of carcinoid tumors in pregnancy. A review of the literature related to management and prognosis in such cases was done.

The role of metalloproteinases in endometrial remodelling during menstrual cycle.

Endometrium is the only tissue in the human body subject to cyclic transformations under the influence of ovarian steroid hormones. As estradiol and progesterone balance throughout the physiological menstrual cycle changes, so does the expression of metalloproteinases (MMPs). These endopeptides are responsible for keeping the balance between the process of synthesis and degradation of extracellular matrix proteins. Thus, MMP's take part in sustaining physiological stability of the endometrium. A number of MMPs found in the endometrial tissue and their activity is related to menstrual cycle phase. This paper is an up-to-date review of literature of Medline database. The search was conducted for key words including "matrix metalloproteinases", "MMPs", "TIMPs" and "tissue inhibitors of metalloproteinases". Over 1092 publications regarding interdependence and interplay between ovarian hormones and the role of various MMPs and their inhibitors in normal endometrial remodelling and in pathological conditions were analysed and critically reviewed.

Is routine performance of the uterine cervix canal curettage prior to the curettage of the uterine cavity justified?

OBJECTIVES: Endocervical curettage (ECC) together with the dilatation and curettage of the uterine cavity (D & C) is routinely performed in everyday clinical practice. The aim of this study is to assess the rationale of the performance of ECC prior to D & C in indications other than abnormal uterine bleeding (AUB). MATERIAL AND METHODS: Case histories of 736 patients after ECC performed in the 1st Department of Obstetrics and Gynaecology, Medical University of Warsaw, were analyzed retrospectively, the indications for the procedure - age, menopausal status, parity, procedure operator's experience - as well as the result of the histopathology examination were taken into account. Three groups of patients were distinguished based on the indications for the procedure. RESULTS: In 645 (87.6%) of cases normal histopathology results were obtained. 40 (5.4%) cases were abnormal. 31 cases of uterine cervix dysplasia were disclosed (CIN 1-20; CIN 2-5; CIN 3-6), 8 cases of endometrial cancer and 1 case of cancer of the uterine cervix were disclosed. In 51 (7%) of cases tissue material for histopathology examination was not obtained. In patients where ECC and D & C were performed due to indications other than abnormal bleeding from uterine cavity, no abnormal results were revealed. In addition, in this group the highest number of non-diagnostic ECCs was reported (11.59%; p < 0.05). CONCLUSIONS: In the case of endometrial biopsy for indications other than AUB routine ECC prior to D & C need not be performed.

Assessment of the usefulness of pipelle biopsy in gynecological diagnostics.

OBJECTIVES: The aim of this study is to assess the effectiveness of pipelle in sampling diagnostic material from the uterine cavity and determining clinical factors, which may affect its effectiveness. MATERIAL AND METHODS: The retrospective analysis included 312 patients who underwent pipelle biopsy because of various indications. Evaluated factors which may affect the effectiveness of this method were: types of indications for the procedure, age, BMI, anteflexion or retroflexion of the uterus, presence of uterine fibroids, miscarriages, natural deliveries, deliveries in general. RESULTS: In 259 (83.01%) cases sampled material allowed for a histopathological diagnosis. In 53 (16.99%) of the women we failed to sample tissue material from the uterine cavity. Indications for the procedure, BMI, age and menopausal status were factors of potential impact on the diagnostic effectiveness (p < 0.05). The diagnostic value of pipelle was found to be the lowest in women with overweight and obesity (BMI > 28), post-menopausal women, women over 55 years of age and where biopsy was performed for indications other than abnormal uterine bleeding. On the other hand, pipelle shows clearly the highest effectiveness in sampling diagnostic material from the uterine cavity in young women (< 45 years of age), menstruating women, women with normal body weight or underweight (BMI < 23) and abnormal uterine bleeding. CONCLUSIONS: Choosing a pipelle as an endometrial biopsy method should consider the indications, BMI, age and menopausal status. Omission of these factors can increase non-diagnostic outcomes resulting in necessity of repeated biopsies, the risk of complications and increases the costs of health care system.

Comparison of endometrial biopsy and postoperative hysterectomy specimen findings in patients with atypical endometrial hyperplasia and endometrial cancer.

OBJECTIVES: The aim of the study was to assess the concordance between the preoperative endometrial sampling and microscopic examination of the hysterectomy specimens in patients surgically treated for atypical endometrial hyperplasia and endometrial carcinoma. MATERIAL AND METHODS: We analysed a group of 204 patients, of whom 160 (78.43%) underwent surgical treatment for cancer of the corpus uteri and 44 (21.57%) for atypical endometrial hyperplasia. The preoperative diagnosis was based on the histological examination of endocervical and endometrial samples obtained by fractional curettage and it was compared to the histological findings at hysterectomy. The comparison was made for the basic diagnosis, the histological type of the cancer and the grade of tumour differentiation. RESULTS: When the histological types of cancer diagnosed in endometrial curettage and hysterectomy specimens were com-pared, the concordance was observed in 134/160 patients (83.75%). The highest concordance was found for endometrioid carcinoma (127/148 patients, 85.81%). The grade of tumour differentiation was accurate in 69.31% of patients. The highest concordance was for moderately differentiated carcinomas. Of 44 patients who underwent surgical treatment for atypical endometrial hyperplasia, the preoperative diagnosis was confirmed by the postoperative histopathological examination in 21 patients (47.73%). In 15 patients (34.09%) endometrial cancer was diagnosed at hysterectomy. CONCLUSIONS: In endometrial cancer our findings demonstrate a high level of concordance between the histological diagnosis on endometrial curettage and at hysterectomy. Own observations have confirmed that over 30% of patients undergoing surgical treatment for atypical endometrial hyperplasia have concurrent endometrial cancer which is determined by surgery.

[Incidence of proapoptotic proteins p53 and p21 in epithelial ovarian tumors]. / Analiza czestosci wystepowania proapoptycznych bialek p53 i p21 w nablonkowych guzach jajnika.

OBJECTIVE: The aim of the study was to evaluate the expression of proapoptotic proteins p53 and p21 in cystadenomas, borderline tumors and ovarian cancers. The correlation between proapoptotic proteins and selected parameters of ovarian tumors was also assessed. MATERIAL AND METHODS: The study group consisted of 66 patients operated on because of epithelial ovarian tumor The study group was further divided into three subgroups: cystadenomas, borderline tumors and ovarian cancers. RESULTS: The average value of p53 was the highest in the ovarian cancer group (50.12 +/- 39.52), whereas average value for p21 was the highest in patients with borderline tumors (24.41 +/- 24.43). There was a negative correlation between tumor stage and parameters of p21(+++), p21(++), p271 (+) but no correlation was found between the expression of p53, p21 and histological type of ovarian cancer. CONCLUSION: The assessment of p53 and p21 can be expensive, but it proves to be a useful tool in difficult cases. Positive reaction to p53 can be noted in both, benign and malignant ovarian tumors, but in case of cancer its intensity is notably stronger.

Critical analysis of cases of endometrial carcinoma of the uterine corpus incidentally diagnosed after incomplete surgery for other indications. Three case reports and a review of the literature.

Incidental diagnosis of endometrial carcinoma after the operation for presumed benign disease is rare. At present, there are no recognized guidelines on optimal management of uterine malignancy diagnosed after incomplete surgery for other indications and the reported experience is limited. Although the risk of histological diagnosis of endometrial carcinoma in the uterus removed for pre-operatively diagnosed benign disease is very low, one should always bear in mind that it may indeed occur. Omission of certain diagnostic procedures prior to hysterectomy may result in incidental finding of a malignancy at or after surgery, even when preoperative imaging studies reveal benign disease. Many centres develop their own strategies, although in most cases the adnexa and cervix are removed and thorough exploration of the abdominal cavity is performed. Also, in view of the technical difficulties involved in removing the uterus and adnexa via the vagina and a potential high risk of cancer either developing in the cervical stump or disseminated from inadvertently morcellated uterine fragments, one should carefully consider the potential benefits and risks of supracervical hysterectomy. We present three patients with endometrial carcinoma diagnosed after hysterectomy, who subsequently underwent completion surgery. A review of the literature follows, which presents opinions from international centres.

[Malignant neoplasms of the uterus in women treated with uterine artery embolization for presumed leiomyoma--description of three cases]. / Nowotwory zlosliwe macicy u kobiet leczonych z powodu miesniaków metoda embolizacji tetnic macicznych--opis trzech przypadków.

Leiomyomas are the most common tumors of the uterus. Uterine artery embolization has been accepted as an alternative method for myomectomy or hysterectomy However lack of histologic conformation carries the risk of misdiagnosis of cancer so a thorough diagnostic testing is needed. Leiomyosarcomas are rare but very aggressive tumors of the uterine tract. The risk of leiomyosarcoma in myomata is very low, but it is necessary to remember about it, especially when we have no tissue for histological examination. Our report presents three cases of women diagnosed with leiomyosarcomas or endometrial cancer after uterine artery embolization for suspected symptomatic uterine fibroids.

Cervical Cancer Prophylaxis-State-of-the-Art and Perspectives.

BACKGROUND: Each year 604,127 new cases of cervical cancer (CC) are diagnosed, and 341,831 individuals die from the disease. It is the fourth most common cancer among women and the fourth most common cause of death from female cancers worldwide. The pathogenesis of CC is associated with human papillomavirus (HPV) infections and consists of several steps involving cell proliferation outside the human body's control mechanisms. Strategies to prevent CC are based on screening and vaccination. SCOPE OF THE REVIEW: The aim of this paper was to collect and analyze the available literature on the issue of CC prevention and the impact of the COVID-19 pandemic on its implementation. For this purpose, PubMed and Google Scholar databases were searched using keywords, such as "cervical cancer"; "HPV"; "prevention"; "prophylaxis"; "vaccination"; "screening" and "COVID-19" in different variations. Only articles published since 2018 were included in the study. CONCLUSIONS: Selected European countries have different CC prevention programs funded by national budgets. This translates into observed differences in the risk of death from CC (age-standardized rate Malta = 1.1, Poland = 5.9). COVID-19 pandemic due to disruption of CC screening may exacerbate these differences in the future. To improve the situation, new screening methods, such as p16/Ki67, HPV self-testing, and the use of artificial intelligence in colposcopic assessment, should be disseminated, as well as free HPV vaccination programs implemented in all countries. The search for new solutions is not without significance and entails ultra-sensitive screening tests for risk groups (mRNA E6/E7, SOX1/SOX14), HPV vaccines with shorter dosing schedules, and new therapeutic pathways using nanotheranostics.

Endometrial Cancer-Adjacent Tissues Express Higher Levels of Cancer-Promoting Genes than the Matched Tumors.

Molecular alterations in tumor-adjacent tissues have recently been recognized in some types of cancer. This phenomenon has not been studied in endometrial cancer. We aimed to analyze the expression of genes associated with cancer progression and metabolism in primary endometrial cancer samples and the matched tumor-adjacent tissues and in the samples of endometria from cancer-free patients with uterine leiomyomas. Paired samples of tumor-adjacent tissues and primary tumors from 49 patients with endometrial cancer (EC), samples of endometrium from 25 patients with leiomyomas of the uterus, and 4 endometrial cancer cell lines were examined by the RT-qPCR, for MYC, NR5A2, CXCR2, HMGA2, LIN28A, OCT4A, OCT4B, OCT4B1, TWIST1, STK11, SNAI1, and miR-205-5p expression. The expression levels of MYC, NR5A2, SNAI1, TWIST1, and STK11 were significantly higher in tumor-adjacent tissues than in the matched EC samples, and this difference was not influenced by the content of cancer cells in cancer-adjacent tissues. The expression of MYC, NR5A2, and SNAI1 was also higher in EC-adjacent tissues than in samples from cancer-free patients. In addition, the expression of MYC and CXCR2 in the tumor related to non-endometrioid adenocarcinoma and reduced the risk of recurrence, respectively, and higher NR5A2 expression in tumor-adjacent tissue increased the risk of death. In conclusion, tissues proximal to EC present higher levels of some cancer-promoting genes than the matched tumors. Malignant tumor-adjacent tissues carry a diagnostic potential and emerge as new promising target of anticancer therapy.