Leiomyomata

Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence...

INTRODUCTION AND IMPORTANCE: We present three cases of steroid cell tumour due to their rarity, their differing clinical presentations and the distinct pathology. CASE PRESENTATION: Case 1: A 50-year-old female presented with heavy menstrual bleeding. Adenomyosis and multiple leiomyomata were found along with an incidental 2.5mm, paratubal steroid cell tumour. Given the size of the tumour and the histopathological features this was considered benign. Case 2: A 69-year-old female patient presented with virilization, found to have a left ovarian steroid cell tumour...

Exposures to heavy metals and metalloids have been associated with decreased fecundity and fertility in couples conceiving via assisted reproduction. Heavy metals and metalloids can alter the homeostasis of critical hormones controlling sexual maturation by binding to critical hormones and receptors. This may disrupt the time course of sexual maturation directly or indirectly affecting reproductive competence in males and females. The present review aims to provide a summarized overview of associations between heavy metal exposure, reproductive concerns, and IVF outcomes...

Uterine Fibroids, or leiomyomata, affect millions of women world-wide, with a high incidence of 75% within women of reproductive age. In ~30% of patients, uterine fibroids cause menorrhagia, or heavy menstrual bleeding, and more than half of the patients experience symptoms such as heavy menstrual bleeding, pelvic pain, or infertility. Treatment is symptomatic with limited options including hysterectomy as the most radical solution. The genetic foundations of uterine fibroid growth have been traced to somatic driver mutations ( MED12, HMGA2, FH -/- , and COL4A5-A6 )...

Leiomyo-adenomatoid tumour (LMAT) is a rare benign neoplasm and very few cases of LMAT of the uterus are documented in the literature. Uterine LMATs are usually detected incidentally during the histopathologic evaluation of routine myomectomy or hysterectomy specimens for leiomyomata. Thorough evaluation of the morphological features and a concise immunohistochemical panel allows for accurate classification of this benign neoplasm.

Classic transcriptional regulation by progesterone via the nuclear progesterone receptors A and B (PR-A, PR-B) has been recognized for decades. Less attention has been given to a mitochondrial progesterone receptor (PR-M) responsible for non-nuclear activities. PR-M is derived from the progesterone receptor (PR) gene from an alternate promoter with the cDNA encoding a unique 5' membrane binding domain followed by the same hinge and hormone-binding domain of the nPR. The protein binds to the mitochondrial outer membrane and functions to increase cellular respiration via increased beta-oxidation and oxidative phosphorylation with resulting adenosine triphosphate (ATP) production...

Uterine artery embolization (UAE) is an established technique to treat benign diseases of the uterus such as uterine leiomyomata (fibroids) and adenomyosis. This article reviews the use of UAE in these conditions and summarizes the evidence regarding safety and efficacy of the technique based on the current literature.

No abstract text is available yet for this article.

Malignant transformation in leiomyoma is rare, with a few documented cases of sarcomatous transformation in leiomyomas. However, carcinosarcomatous transformation in leiomyomas is extremely infrequent. A 45-year-old female presented with a mass sensation per abdomen for the last five months. An abdominal ultrasound revealed multiple uterine fibroids. Contrast-enhanced magnetic resonance imaging revealed a large multiloculated abdominopelvic mass arising from the fundus of the uterus, along with multiple smaller subserosal fibroids...

A technical video was produced to demonstrate in step-by-step fashion a multiple contained myomectomy of a 20 × 30 cm giant myoma and seven additional fibroids found in the same patient, which required two different types of specimen retrieval bags for the electronic power morcellation. This complete surgical procedure included leiomyomata enucleation, contained in-bag electronic power morcellation, uterine reconstruction and the application of an adhesion prophylactic medical product.

IMPORTANCE: Leiomyomata, or fibroids, are a common gynecological problem affecting many women of reproductive age. Historically, myomectomy is offered to women with symptomatic fibroids who desire to preserve fertility. More recently, uterine artery embolization (UAE) has been explored as another fertility-sparing option. OBJECTIVE: This review aims to provide an in-depth summary of the effects on fertility and reproductive outcomes following myomectomy and UAE for the treatment of symptomatic fibroids...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Heterozygous loss-of-function variants in the suppressor of fused protein gene (SUFU) can result in Gorlin syndrome, which is characterized by an increased frequency of basal cell carcinoma, medulloblastoma, odontogenic keratocysts, as well as other tumors. We describe a case of a 5-month-old female who presented with multiple intra-abdominal leiomyomata and was found to have a likely pathogenic splice site variant in the SUFU gene. This is the first reported case of leiomyomatosis secondary to a pathogenic SUFU variant in an infant and may represent an early, atypical presentation of Gorlin syndrome...

OBJECTIVE: The aim of this systematic review is to gather and synthesize evidence regarding the use of oral gonadotrophin-releasing hormone (GnRH) antagonist for the treatment of bleeding associated with uterine myomas. DATA SOURCES: Web of Science, and MEDLINE databases were searched electronically on March 5, 2021, using combinations of the relevant Medical Subject Headings terms and keywords. The search was restricted to the English language and to human studies...

Bone formation in the ovary is exceedingly rare, except in the setting of dermoid cysts. Here, the author reports a case of incidental finding of heterotopic bone formation in a mucinous cystadenoma of the ovary in a 45-year-old woman who had underwent a total abdominal hysterectomy and right salpingo-oopherectomy because of hypermenorrhea during last one year with an ultrasonography report of right ovarian cyst and simultaneous multiple uterine leiomyomatas. Microscopic examination of the ovarian cyst revealed a mucinous cystadenoma with the striking finding of several thin plates of lamellar bone identified in fibrous tissue in the cyst wall...

BACKGROUND: Uterine leiomyomata (UL), commonly known as uterine fibroids, are benign smooth muscle tumors of the myometrium. They cause pelvic pain, abnormal uterine bleeding, and infertility in women of reproductive age. The ovarian hormone estrogen is the main stimulator for the fibroid growth. The etiology is not yet clearly understood; however, UL are believed to be monoclonal tumors arising from a common progenitor cell. Chromosomal cytogenetic abnormalities have been demonstrated in 40-50% of the fibroids...

Leiomyoma is the commonest benign mesenchymal tumor of the uterus, which can be developed at any site where smooth muscle cells are found. The broad ligament is the most common and ovary is one of the rarest extrauterine sites, accounting for 0.5-1% of all benign ovarian tumors. Herein, we report a case of ovarian leiomyoma in a perimenopausal female, clinically presented with heavy menstrual bleed, radiologically diagnosed as subserosal uterine fibroid. Intraoperatively, it was considered as ovarian fibroma but finally diagnosed as ovarian leiomyoma on histomorphology, which was confirmed on special stains and immunohistochemistry...

The rupture of a subserosa variceal vein overlying a uterine myoma is a rare complication and a less common cause of gynecologic haemoperitoneum. The literature data are scarce regarding this condition and less than 100 cases have been reported (including those occurring during pregnancy). The present case is of a 48-year-old woman, with a history of asymptomatic uterine myoma, who was hospitalised for severe abdominal pain with sudden onset and signs of hypovolemic shock. The emergency conventional imaging exams confirmed the diagnosis of uterine myoma and haemoperitoneum, but did not reveal the source of bleeding...

FH Tumour Predisposition Syndrome, also known as Hereditary Leiomyomatosis and renal cell cancer (HLRCC), or Reed Syndrome, is an autosomal dominant condition clinically characterized by multiple cutaneous leiomyomas, multiple early-onset uterine leiomyomas and early-onset renal cell cancer. Here we report a young female with FH Tumour Predisposition Syndrome with no clinical features except early-onset uterine leiomyomas. Whilst there is a significant history of uterine leiomyomas in her family, there is no history of cutaneous leiomyomas or renal cell cancer (RCC)...