BACKGROUND: To report the diagnosis and treatment of a rare disease of intravenous leiomyomatosis (IVL) originating from the uterus, growing in the inferior vena cava (IVC) and extending into the right atrium (RA) associated with a pelvic arteriovenous fistula (AVF). This is the first reported case of IVL in the IVC and RA with pulmonary benign metastasizing leiomyoma (PBML) secondary to a pelvic AVF despite the use of GnRH agonists in a nonmenopausal woman.
METHODS: The patient was a 50-year-old premenopausal woman with a history of surgical resection for and antiestrogen conservative drug for pulmonary benign metastasizing leiomyoma (PBML) 5 years. The patient nevertheless developed IVL in the IVC, internal iliac vein and RA accompanied by AVF. Vaginal ultrasound combined with echocardiography and computerized tomographic venography imaging assists in the diagnosis of IVL combined with AVF, with histopathology and immunohistochemistry ultimately confirming the diagnosis. The patient ultimately was performed with a combination of hysterectomy, bilateral adnexectomy, and resection of tumors in the IVC and RA without cardiopulmonary bypass and sternotomy.
CONCLUSIONS: BML may be difficult to control with incomplete removal of the uterus and ovaries even with the use of antiestrogenic medications, and medically induced AVF resulting from fibroid surgery may accelerate this process and the development of IVL.

UNASSIGNED: This study aimed to explore the efficacy and safety of high-intensity focused ultrasound (HIFU) ablation for treating fumarate hydratase (FH)-deficient uterine leiomyomas.
UNASSIGNED: Ten patients with FH-deficient uterine leiomyomas treated with HIFU ablation at the Third Xiangya Hospital from July 2017 to January 2023 were enrolled in this study. The effectiveness and adverse effects of HIFU were analyzed.
UNASSIGNED: The median age of the patients who received HIFU was 32.0 years (range: 28-41 years). Only 2 patients had solitary uterine leiomyomas, whereas the remaining 8 patients had multiple uterine leiomyomas. The median diameter of the largest myoma was 56 mm (range: 41-99 mm). Magnetic resonance imaging showed that the FH-deficient uterine leiomyomas of 8 patients presented as mixed intensity on T2WI, that of one patient was hypointense, and that of another patient was hyperintense on T2WI. All patients successfully underwent HIFU ablation in one session without severe adverse effects. The median nonperfusion volume ratio (NPVR) was 40% (30.0%-78.0%) after HIFU treatment. Four patients had NPVR ≥70%. At 3-month follow-up after HIFU ablation, the clinical symptoms of 5 of the 8 patients with symptoms before treatment were relieved. Six months after treatment, 4 of the 8 patients with symptoms were still in remission. All patients received reintervention by March 2024. The reintervention rates were 20%, 70%, and 90% at 12, 24, and 36 months, respectively, after HIFU ablation.
UNASSIGNED: HIFU is a safe and feasible treatment for FH-deficient uterine leiomyomas, and most patients show effective results in the short term after treatment. However, the reintervention rates are high, and the long-term effects are limited.

暂无摘要。

Uterine leiomyomas (ULM) are the most common benign tumors of the female genitalia, while uterine leiomyosarcomas (ULMS) are rare. The sarcoma is diffuse growth, prone to hematogenous metastasis, and has a poor prognosis. Due to their similar clinical symptoms and morphological features, it is sometimes difficult to distinguish them, and the final diagnosis depends on histological diagnosis. Misdiagnosis of ULM as ULMS will lead to more invasive and extensive surgery when it is not needed, while misdiagnosis of ULMS as ULM may lead to delayed treatment and poor prognosis. This review searched and studied the published articles on ULM and ULMS, and summarized the potential markers for the differential diagnosis of ULMS. These markers will facilitate differential diagnosis and personalized treatment, providing timely diagnosis and potentially better prognosis for patients.

UNASSIGNED: Hypertension and hypertensive disorders of pregnancy (HDP) are common diseases in women at different stages, which affect women\'s physical and mental health, and the impact of the latter on the offspring cannot not be ignored. Observational studies have investigated the correlation between uterine leiomyoma (UL) and the above conditions, but the relationship remains unclear. In this study, we employed two-sample Mendelian randomization (MR) analysis to assess the association between UL and hypertension, HDP, as well as blood pressure.
UNASSIGNED: We collected genetic association data of UL (35,474 cases), hypertension (129,909 cases), HDP (gestational hypertension with 8,502 cases, pre-eclampsia with 6,663 cases and eclampsia with 452cases), systolic blood pressure (SBP) and diastolic blood pressure (DBP) (both 757,601 participants) from published available genome-wide association studies (GWAS). The single nucleotide polymorphisms (SNPs) associated with UL phenotype were used as instrumental variables, and hypertension, three sub-types of HDP, SBP and DBP were used as outcomes. The inverse-variance weighted (IVW) method was employed as the primary method of causal inference. Heterogeneity was assessed using Cochran\'s Q test, and sensitivity analyses were conducted using MR-Egger regression and MR pleiotropy residual sum and outlier (MR-PRESSO) tests to evaluate the pleiotropy of instrumental variables. PhenoScanner search was used to remove confounding SNP. Robustness and reliability of the results were assessed using methods such as the weighted median and weighted mode.
UNASSIGNED: The IVW analysis revealed a positive correlation between genetically predicted UL and SBP [odds ratio (OR)= 1.67, 95% confidence interval (CI):1.24~2.25, P = 0.0007], and no statistical association was found between UL and hypertension, HDP, or DBP. The MR-Egger regression suggested that the above causal relationships were not affected by horizontal pleiotropy. The weighted median method and weighted model produced similar results to the IVW.
UNASSIGNED: Based on large-scale population GWAS data, our MR analysis suggested a causal relationship between UL and SBP. Therefore, women with UL, especially pregnant women, should pay attention to monitoring their blood pressure levels. For patients with hypertension who already have UL, interventions for UL may serve as potential therapeutic methods for managing blood pressure.

OBJECTIVE: This study presents a detailed analysis of the clinical and genetic characteristics of uterine leiomyoma associated with Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), combined with exploration of family history, pathology, and management procedures, supported by thorough evidence collection.
METHODS: Blood samples were collected from the proband, and the pathogenic variant was verified using Sanger sequencing. A comprehensive review of family history, FH deficiency pathology, FH and 2SC immunohistochemistry staining was conducted. Functional evidence was derived from clinical and genetic information, supplemented by a literature collection and mutation was reclassified based on ACMG/AMP guidelines.
RESULTS: The study successfully identifies a novel missense mutation (c.1240A>G; p.Lys414Glu) in exon 9 of FH, with no prior reports in existing databases. The patient\'s phenotype and family history, coupled with evidence collected from the literature, contribute to the preliminary determination of the variant as likely pathogenic. We also emphasize that the importance of combining FH-deficient morphology and immunohistochemical staining with 2SC for enhanced sensitivity.
CONCLUSIONS: This research adds a novel missense mutation to the repertoire of FH gene variants, emphasizing its likely pathogenic nature based on a multidimensional analysis of phenotype, family history, and literature evidence. The findings enhance our understanding of the genetic landscape associated with FH and underscore the importance of thorough characterization for accurate variant classification.

UNASSIGNED: Uterine leiomyoma (UL) is one of the most common benign tumors in women, and its incidence is gradually increasing in China. The clinical complications of UL have a negative impact on women\'s health, and the cost of treatment poses a significant burden on patients. Diagnosis-related groups (DRG) are internationally recognized as advanced healthcare payment management methods that can effectively reduce costs. However, there are variations in the design and grouping rules of DRG policies across different regions. Therefore, this study aims to analyze the factors influencing the hospitalization costs of patients with UL and optimize the design of DRG grouping schemes to provide insights for the development of localized DRG grouping policies.
UNASSIGNED: The Mann-Whitney U-test or the Kruskal-Wallis H-test was employed for univariate analysis, and multiple stepwise linear regression analysis was utilized to identify the primary influencing factors of hospitalization costs for UL. Case combination classification was conducted using the exhaustive chi-square automatic interactive detection (E-CHAID) algorithm within a decision tree framework.
UNASSIGNED: Age, occupation, number of hospitalizations, type of medical insurance, Transfer to other departments, length of stay (LOS), type of UL, admission condition, comorbidities and complications, type of primary procedure, other types of surgical procedures, and discharge method had a significant impact on hospitalization costs (P<0.05). Among them, the type of primary procedure, other types of surgical procedures, and LOS were the main factors influencing hospitalization costs. By incorporating the type of primary procedure, other types of surgical procedures, and LOS into the decision tree model, patients were divided into 11 DRG combinations.
UNASSIGNED: Hospitalization costs for UL are mainly related to the type of primary procedure, other types of surgical procedures, and LOS. The DRG case combinations of UL based on E-CHAID algorithm are scientific and reasonable.

UNASSIGNED: Intravascular leiomyomatosis (IVL) is often a non-malignant condition that grows inside the blood vessels and does not invade surrounding tissues. However, its presence within the blood vessels can lead to obstructions. The majority of IVL cases manifest symptoms related to blockage.
UNASSIGNED: We present a case of a 50-year-old female patient who was referred to our institution due to the presence of a common non-cancerous tumor in the uterus, known as a benign uterine leiomyoma. The tumor was identified during an ultrasound examination during a routine physical examination. Postoperative pathology established the existence of intrapelvic IVL.
UNASSIGNED: Intrapelvic IVL often not present with complications when it is confined to the pelvic cavity. Furthermore, the imaging features of intrapelvic IVL resemble those of typical benign uterine leiomyomas. This can often result in the clinical misdiagnosis of the tumor as a typical benign uterine leiomyoma.

UNASSIGNED: To describe a novel nonsense mutation in the fumarate hydratase (FH) gene in a Chinese patient with recurrent multiple leiomyomas.
UNASSIGNED: Case report.
UNASSIGNED: Medical school-affiliated tertiary hospital.
UNASSIGNED: A nulligravida patient aged 30 years with large uterine leiomyomas (ULMs) and severe anemia.
UNASSIGNED: Clinical evaluation, abdominal myomectomy, targeted next-generation sequencing.
UNASSIGNED: Fumarate hydratase gene mutation in ULMs.
UNASSIGNED: A novel nonsense mutation (c.771T>G) in the FH gene was identified in this patient. This mutation is located in exon 6, which encodes the N-terminal fumarate lyase domain. It leads to a predicted truncated protein with loss of the majority of the lyase domain, resulting in FH deficiency.
UNASSIGNED: Because of the recurrent multiple leiomyomas, this patient received 2 myomectomies within 5 years. On immunostaining the leiomyoma, FH deficiency was detected, and targeted next-generation sequencing revealed a novel mutation of the FH gene. This patient was at risk for early disease relapse and developing renal cancer, and close disease monitoring is recommended. Meanwhile, the expanded mutation database should benefit patients in diagnosing FH gene-associated ULMs.

UNASSIGNED: Intravascular leiomyomatosis (IVL) of the uterus is extremely rare in clinical practice, often involving the pelvic and abdominal veins. Involvement of the heart and pulmonary arteries is rarer but can lead to severe clinical outcomes. It is difficult to diagnose the disease before operation, and most of them are found accidentally during the operation or postoperative pathology of uterine fibroids. This article will report a special case of IVL involving the heart, and comprehensively analyze and discuss the relevant domestic and foreign literature. Through real clinical cases, we hope to understand the core characteristics of this disease to guide clinical diagnosis and treatment.
UNASSIGNED: Here, we present the case of a 47-year-old woman with intrauterine venous leiomyomatosis whose tumor had spread to the right atrium. The patient lacked any distinct clinical symptoms. During uterine fibroid surgery, the tumor bolt was unintentionally discovered. The combined utility of multiple disciplines resulted in total removal of the tumor thrombus in the patient\'s venous system and right atrium during the same procedure. Following surgery, the patient achieved a significant recovery. After a follow-up of 2 years, there was no sign of neoplasm recurrence.
UNASSIGNED: IVL mainly occurs in premenopausal women. The early clinical manifestations are non-specific, and preoperative diagnosis is difficult. In order to improve the preoperative diagnosis rate, preoperative examination should be strengthened for patients with large uterine fibroids, long duration, chest tightness, shortness of breath, syncope and other medical history. During the operation, the pelvic and abdominal vessels should be comprehensively explored, and all intravascular lesions should be removed at one time, especially for those involving the heart, which often requires multidisciplinary collaboration. Complete resection of the lesion is the key factor affecting the recurrence. Endocrine therapy is an option for postoperative treatment, and it is used selectively according to the specific condition of the patient to reduce the risk of recurrence.