Search Results (208)

Background and Objectives: The use of a bipolar resectoscope has become popular due to the lower risk of hyponatremia. However, gynecologists might overlook the risk of water intoxication. Water intoxication is associated with the infusion of distending fluid. We were interested in the prediction of the infused distending fluid volume in the era of bipolar hysteroscopy. Thus, the aim of this study was to identify the predictors of the infused distending fluid volume for hysteroscopic myomectomy. Materials and Methods: All consecutive women who underwent monopolar (n = 45) or bipolar (n = 137) hysteroscopic myomectomy were reviewed. Results: Myoma diameter (cm, coefficient = 680 mL, 95% confidence interval (CI) = 334–1025 mL, p <0.001) and bipolar hysteroscopy (coefficient = 1629 mL, 95% CI = 507–2752 mL, p = 0.005) were independent predictors of infused distending fluid volume. A myoma diameter ≥4.0 cm was the optimal cutoff value to predict the presence of >5000 mL of infused distending fluid. One woman in the bipolar group developed life-threatening water intoxication. Conclusions: Myoma diameter is associated with an increase in infused distending fluid volume, especially for myomas ≥4 cm. Meticulous monitoring of the infused distension fluid volume is still crucial to avoid fluid overload during bipolar hysteroscopic myomectomy. Full article

Over 70% of leiomyoma (LM) harbor MED12 mutations, primarily in exon 2 at c.130-131 (GG). Myometrial cells are the cell origin of leiomyoma, but the MED12 mutation status in non-neoplastic myometrial cells is unknown. In this study, we investigated the mutation burden of MED12 in myometrium. As traditional Sanger or even NGS sequencing may not be able to detect MED12 mutations that are lower than 0.1% in the testing sample, we used duplex deep sequencing analysis (DDS) to overcome this limitation. Tumor-free myometria (confirmed by pathology evaluation) were dissected, and genomic DNA from MED12 exon 2 (test) and TP53 exon 5 (control) were captured by customer-designed probe sets, followed by DDS. Notably, DDS demonstrated that myometrial cells harbored a high frequency of mutations in MED12 exon 2 and predominantly in code c.130-131. In contrast, the baseline mutations in other coding sequences of MED12 exon 2 as well as in the TP53 mutation hotspot, c.477-488 were comparably low in myometrial cells. This is the first report demonstrating a non-random accumulation of MED12 mutations at c.130-131 sites in non-neoplastic myometrial cells which provide molecular evidence of early somatic mutation events in myometrial cells. This early mutation may contribute to the cell origin for uterine LM development in women of reproductive age. Full article

Background: Chest pain is one of the most common causes of emergency room visits and also accounts for numerous visits to the family physician’s office or Outpatient Clinics of cardiology or internal medicine. Case Report: Here we present a case of a 48-year-old female patient who presented to our hospital emergency unit but refused hospital admission. She presented in our Outpatient Clinic with a complaint of typical chest pain indicating it to be of coronary origin. A computed tomography (CT) coronary angiography for the evaluation of this chest pain was indicated. While ruling out the coronary origin of this chest pain, we were surprised to have incidentally identified the presence of an esophageal tumor mass that had intimate contact with carina of the trachea. After the diagnosis of esophageal leiomyoma was made and its surgical treatment was performed, the patient was asymptomatic. Approximately one year after the surgical intervention was performed, following the cessation of antiplatelet therapy and statin, the patient returned to our Outpatient Clinic complaining of chest pain again with the same characteristics as previously presented, being terrified by the possibility of the recurrence of the esophageal leiomyoma. Upon resuming investigations, it was proven through coronary angio-CT evaluation that the etiology of the chest pain was indeed coronary this time. However, the patient still refused hospital admission and the performance of percutaneous coronary angiography with the potential implantation of a coronary stent. Conclusions: Chest pain can be due to various underlying pathologies and should not be neglected. A thorough investigation and timely management are key to treating this possible fatal symptom. In our case, the patient presented twice with the complaint of typical chest pain indicating a possible coronary event, but at the first presentation, it was due to esophageal leiomyoma, while a year later, the patient had similar pain, which was indeed this time due to coronary blockage. Hence, it is of utmost importance to think of all possible scenarios and to investigate accordingly, leaving no stone unturned. Full article

Pulmonary benign metastasizing leiomyoma (PBML) is a rare condition characterized by the spread of uterine leiomyomas to the lungs, typically observed in premenopausal women with a history of hysterectomy or myomectomy. This report presents a unique case of a postmenopausal woman, aged 65, that emphasizes the clinical, radiological, histologic, and immunohistochemical aspects of the disease. On presentation, the patient suffered from severe pain. On imaging, a sizable lung tumor was found. Histopathological examination and immunoprofiling confirmed PBML. The patient underwent various treatments, including surgery, radiation therapy, and hormonal therapy, illustrating the challenges in managing PBML. A literature review underscores the rarity of PBML and its diverse clinical manifestations. This study provides valuable insights into the complexities of PBML. Full article

Disseminated peritoneal leiomyomatosis (DPL) is a rare condition marked by multiple leiomyomas in the peritoneal cavity, predominantly affecting women of reproductive age. Although typically benign, DPL can present significant diagnostic challenges and, in rare cases, may progress to malignancy. A primary contributing factor to DPL is iatrogenic, particularly due to surgical interventions such as morcellation during myomectomy. This scoping review explores the pathogenesis, epidemiology, diagnosis, and management of DPL, highlighting the crucial role of hormonal influences and iatrogenic factors. Diagnostic methods include computed tomography, ultrasound, magnetic resonance imaging, and histopathological evaluation, which are essential for assessing disease extent and guiding treatment. Management strategies encompass surgical intervention—with a focus on minimizing iatrogenic risks—conservative approaches for asymptomatic patients, and advancements in hormonal treatments. Emphasis is placed on preventing iatrogenic dissemination through refined surgical techniques and patient education. Despite its rarity, with fewer than 200 cases reported globally, understanding DPL’s clinical presentation and iatrogenic origins is vital for optimal patient outcomes. This review underscores the importance of early diagnosis, personalized treatment plans, and ongoing research to address the challenges associated with DPL. Full article

This case report details the surgical treatment of a rare enlarged cervical leiomyoma with uterine prolapse in a 48-year-old woman. She presented to Konyang University Hospital with a palpable vaginal mass, lower abdominal pain, and urinary incontinence. Despite being nulliparous, she had severe chronic constipation due to schizophrenia medication and lived in a health care facility separated from her family. Pelvic examination revealed stage 3 uterine prolapse with a large necrotic cervical leiomyoma. A robot-assisted vaginal hysterectomy followed by sacrocolpopexy was performed using the Da Vinci Xi Surgical System. Histopathology confirmed cervical leiomyoma with squamous metaplasia. At a three-month follow-up, there were no complications, pelvic anatomy was restored, and urinary incontinence improved. Although the patient had a systemic infection due to the necrotic cervical leiomyoma, raising concerns about the increased risk of infection associated with mesh use, she was high-risk for pelvic organ prolapse (POP) recurrence due to her medical history and living situation. Therefore, she underwent concurrent surgeries with pre- and postoperative antibiotic treatment, and recovered without complications. Given that the risk of developing POP increases after a hysterectomy, in high-risk patients, as demonstrated in this case, the concurrent surgical correction of POP may be an effective strategy. Full article

Although extensively studied in cutaneous epithelial neoplasms, the TRPS1 immunoreactivity in cutaneous mesenchymal neoplasms and tumors of uncertain differentiation (CMNTUDs), such as atypical fibroxanthoma (AFX), remains largely unexplored. We assessed TRPS1 immunoreactivity in 135 CMNTUDs, comprising 46 fibrohistiocytic/fibroblastic tumors, 28 vascular tumors, 24 peripheral nerve sheath tumors (PNSTs), 21 tumors of uncertain differentiation, and 16 smooth muscle tumors. Additionally, we included selected cases of melanoma with spindled cell morphology or desmoplastic features (n = 9) and sarcomatoid squamous cell carcinoma (SSCC) (n = 5) to compare TRPS1 expression patterns with those of AFX. TRPS1 expression was prevalent in dermatofibromas (24/24), leiomyomas (8/8), AFXs/pleomorphic dermal sarcoma (PDS) (20/21), dermatofibrosarcomas protuberans (14/22), and leiomyosarcomas (6/8). It was uncommon in angiosarcomas (3/20), Kaposi sarcomas (2/8), and neurofibromas (5/17) and absent in perineuriomas (0/2). AFXs/PDS exhibited the highest median H-score of 240, contrasting with minimal TRPS1 immunoreactivity in vascular neoplasms and PNSTs, with median H-scores consistently below 10. Significant differences in H-score were observed between AFXs/PDS and angiosarcomas (p < 0.001), melanomas (p < 0.001), and leiomyosarcomas (p = 0.029). However, no significant difference was found compared to SSCCs, suggesting limited discriminatory power of TRPS1 in this context. This study sheds light on TRPS1 expression patterns in a subset of CMNTUDs, extending beyond prior studies primarily focused on epithelial tumors, while underscoring potential pitfalls associated with TRPS1 immunohistochemistry. Full article

Background and Objectives: Fallopian tubal pathology is a primary risk factor for female infertility, with simple proximal disease and proximal disease extending more distally being more common than pure distal occlusion. Proximal tubal occlusion is often attributed to ascending events, such as pelvic inflammatory disease. Conversely, while distal occlusion can also be attributable to ascending pelvic inflammatory disease, it can also have a pelvic origin, such as through endometriosis and ruptured appendicitis. The aim of this study was to identify certain causes of infertility and their association with tubal occlusion. The focus was on the location of tubal occlusion, uni- versus bilateral occlusion, and other causes of infertility, including male factors. Methods: In a retrospective study cohort study, 373 women aged between 18 and 40 years, treated from 1 January 2017 to 31 December 2022, were included. Fallopian tube patency was tested using either hysterosalpingography, hysterosalpingo-contrast sonography, or laparoscopic chromopertubation. Results: In total, 95 of 373 women (25.5%) revealed at least one occluded tube, with unilateral occlusion being more common than bilateral occlusion (60/95, 63.2% vs. 35/95, 36.8%). The majority of tubal occlusions occurred proximally (86.2%). According to the adjusted multivariate regression models, the presence of hydrosalpinx (odds ratio, OR, 13.323, 95% confidence interval, CI: 2.679–66.253, p = 0.002), myomas (OR 2.108, 95%CI: 1.008–4.409; p = 0.048), and an abnormal sperm test result of the male partner (OR 2.105, 95%CI: 1.156–3.833; p = 0.015) were statistically significant associated factors for tubal occlusion. Conclusions: Fallopian tube patency testing is still of major relevance in fertility evaluation. The presence of uterine myomas, hydrosalpinges, and a male factor significantly increase the risk. Full article

Background/Objectives: Artificial intelligence (AI)-assisted endoscopic ultrasonography (EUS) diagnostic tools have shown excellent performance in diagnosing gastric mesenchymal tumors. This study aimed to assess whether incorporating clinical and endoscopic factors into AI-assisted EUS classification models based on digital image analysis could improve the diagnostic performance of AI-assisted EUS diagnostic tools. Methods: We retrospectively analyzed the data of 464 patients who underwent both EUS and surgical resection of gastric mesenchymal tumors, including 294 gastrointestinal stromal tumors (GISTs), 52 leiomyomas, and 41 schwannomas. AI-assisted classification models for GISTs and non-GIST tumors were developed utilizing clinical and endoscopic factors and digital EUS image analysis. Results: Regarding the baseline EUS classification models, the area under the receiver operating characteristic (AUC) values of the logistic regression, decision tree, random forest, K-nearest neighbor (KNN), and support vector machine (SVM) models were 0.805, 0.673, 0.781, 0.740, and 0.791, respectively. Using the new classification models incorporating clinical and endoscopic factors into the baseline classification models, the AUC values of the logistic regression, decision tree, random forest, KNN, and SVM models increased to 0.853, 0.715, 0.896, 0.825, and 0.794, respectively. In particular, the random forest and KNN models exhibited significant improvement in performance in Delong’s test (both p < 0.001). Conclusion: The diagnostic performance of the AI-assisted EUS classification models improved when clinical and endoscopic factors were incorporated. Our results provided direction for developing new AI-assisted EUS models for gastric mesenchymal tumors. Full article

Uterine leiomyosarcoma (uLMS) is the most common subtype of uterine sarcomas. They have a poor prognosis with high rates of recurrence and metastasis. The five-year survival for uLMS patients is between 25 and 76%, with survival rates approaching 10–15% for patients with metastatic disease at the initial diagnosis. Accumulating evidence suggests that several biological pathways are involved in uLMS pathogenesis. Notably, drugs that block abnormal functions of these pathways remarkably improve survival in uLMS patients. However, due to chemotherapy resistance, there remains a need for novel drugs that can target these pathways effectively. In this review article, we provide an overview of the recent progress in ascertaining the biological functions and regulatory mechanisms in uLMS from the perspective of aberrant biological pathways, including DNA repair, immune checkpoint blockade, protein kinase and intracellular signaling pathways, and the hedgehog pathway. We review the emerging role of epigenetics and epitranscriptome in the pathogenesis of uLMS. In addition, we discuss serum markers, artificial intelligence (AI) combined with machine learning, shear wave elastography, current management and medical treatment options, and ongoing clinical trials for patients with uLMS. Comprehensive, integrated, and deeper insights into the pathobiology and underlying molecular mechanisms of uLMS will help develop novel strategies to treat patients with this aggressive tumor. Full article

The diagnosis of hereditary skin tumors is difficult for “old” diagnostic tools such as immunohistochemistry. Whole-exome sequencing analysis as a “new” diagnostic tool enables us to make a final diagnosis in spite of unknown hereditary diseases in the past. Hereditary leiomyomatosis and renal cell cancer are autosomal dominant hereditary cancer syndromes characterized by uterine myomas, cutaneous leiomyomas, and aggressive renal cell cancer. The syndrome is associated with pathogenic germline variants in the fumarate hydratase gene. Herein, we demonstrate a pathogenic germline variant of the fumarate hydratase gene in a 60-year-old woman with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer. Whole-exome sequencing analysis using genomic DNA extracted from peripheral blood leukocytes revealed one germline variant in the FH gene on chromosome 1 (c.290G>A, p.Gly97Asp). She received total hysterectomy due to uterine myoma, which strongly supported the diagnosis. No tumor was detected in her kidney by computed tomography and ultrasound examination. Genetic examination for the mutation of the fumarate hydratase gene is important in order to reach the correct diagnosis and to detect renal cancer at its early stage. Full article

Background/Objectives: This study investigates the correlation between the serum levels of Sestrin 2 and the presence of endometrial polyps or uterine leiomyomas, aiming to enhance the understanding of the pathophysiology underlying these gynecological conditions and evaluate the potential of Sestrin 2 as an early diagnostic biomarker. Methods: In a prospective case-control format, patients with preliminary diagnoses of endometrial polyps or uterine leiomyomas confirmed by histopathological analysis following surgery were included. This study analyzed serum Sestrin 2 levels across different patient groups, revealing significant variations that underscore the diagnostic value of Sestrin 2. Results: Elevated serum Sestrin 2 levels were observed in patients with endometrial polyps and uterine leiomyomas compared to the control group, suggesting its utility as a novel marker for early detection. Conclusions: The study indicates the promising role of serum Sestrin 2 levels as a valuable biomarker for early diagnosis of endometrial polyps and uterine leiomyomas, advocating for further research into its diagnostic and therapeutic potential. Full article

Uterine pathologies pose a challenge to women’s health on a global scale. Despite extensive research, the causes and origin of some of these common disorders are not well defined yet. This study presents a comprehensive analysis of transcriptome data from diverse datasets encompassing relevant uterine pathologies such as endometriosis, endometrial cancer and uterine leiomyomas. Leveraging the Comparative Analysis of Shapley values (CASh) technique, we demonstrate its efficacy in improving the outcomes of the classical differential expression analysis on transcriptomic data derived from microarray experiments. CASh integrates the microarray game algorithm with Bootstrap resampling, offering a robust statistical framework to mitigate the impact of potential outliers in the expression data. Our findings unveil novel insights into the molecular signatures underlying these gynecological disorders, highlighting CASh as a valuable tool for enhancing the precision of transcriptomics analyses in complex biological contexts. This research contributes to a deeper understanding of gene expression patterns and potential biomarkers associated with these pathologies, offering implications for future diagnostic and therapeutic strategies. Full article

Uterine fibroids are the most common tumors in females, affecting up to 70% of women worldwide, yet targeted therapeutic options are limited. Oxidative stress has recently surfaced as a key driver of fibroid pathogenesis and provides insights into hypoxia-induced cell transformation, extracellular matrix pathophysiology, hypoxic cell signaling cascades, and uterine biology. Hypoxia drives fibroid tumorigenesis through (1) promoting myometrial stem cell proliferation, (2) causing DNA damage propelling the transformation of stem cells to tumor-initiating cells, and (3) driving excess extracellular matrix (ECM) production. Common fibroid-associated DNA mutations include MED12 mutations, HMGA2 overexpression, and fumarate hydratase loss of function. Evidence suggests an interaction between hypoxia signaling and these mutations. Fibroid development and growth are promoted by hypoxia-triggered cell signaling via various pathways including HIF-1, TGFβ, and Wnt/β-catenin. Fibroid-associated hypoxia persists due to antioxidant imbalance, ECM accumulation, and growth beyond adequate vascular supply. Current clinically available fibroid treatments do not take advantage of hypoxia-targeting therapies. A growing number of pre-clinical and clinical studies identify ROS inhibitors, anti-HIF-1 agents, Wnt/β-catenin inhibition, and TGFβ cascade inhibitors as agents that may reduce fibroid development and growth through targeting hypoxia. Full article

Uterine fibroids (leiomyomas and myomas) are the most common benign gynecological condition in patients presenting with abnormal uterine bleeding, pelvic masses causing pressure or pain, infertility and obstetric complications. Almost a third of women with fibroids need treatment due to symptoms. Objectives: In this review we present all currently available treatment modalities for uterine fibroids. Methods: An extensive search for the available data regarding surgical, medical and other treatment options for uterine fibroids was conducted. Review: Nowadays, treatment for fibroids is intended to control symptoms while preserving future fertility. The choice of treatment depends on the patient’s age and fertility and the number, size and location of the fibroids. Current management strategies mainly involve surgical interventions (hysterectomy and myomectomy hysteroscopy, laparoscopy or laparotomy). Other surgical and non-surgical minimally invasive techniques include interventions performed under radiologic or ultrasound guidance (uterine artery embolization and occlusion, myolysis, magnetic resonance-guided focused ultrasound surgery, radiofrequency ablation of fibroids and endometrial ablation). Medical treatment options for fibroids are still restricted and available medications (progestogens, combined oral contraceptives andgonadotropin-releasing hormone agonists and antagonists) are generally used for short-term treatment of fibroid-induced bleeding. Recently, it was shown that SPRMs could be administered intermittently long-term with good results on bleeding and fibroid size reduction. Novel medical treatments are still under investigation but with promising results. Conclusions: Treatment of fibroids must be individualized based on the presence and severity of symptoms and the patient’s desire for definitive treatment or fertility preservation. Full article