Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.

Three main uterine leiomyoma molecular subtypes include tumors with MED12 mutation, molecular aberrations leading to HMGA2 overexpression, and biallelic loss of FH. These aberrations are mutually exclusive and can be found in approximately 80-90% of uterine leiomyoma, in which they seem to be a driver event. Approximately 10% of uterine leiomyoma, however, does not belong to any of these categories. Uterine leiomyoma with HMGA2 overexpression is the most common subtype in cellular and second most common category of usual leiomyoma. In some of these tumors, rearrangement of HMGA2 gene is present. The most common fusion partner of HMGA2 gene is RAD51B. Limited data suggests that RAD51B fusions with other genes may be present in uterine leiomyoma. In our study, we described two cases of uterine leiomyoma with RAD51B::NUDT3 fusion, which occur in one case of usual and one case of highly cellular leiomyoma. In both cases, no other driver molecular aberrations were found. The results of our study showed that RAD51::NUDT3 fusion can occur in both usual and cellular leiomyoma. RAD51B may be a fusion partner of multiple genes other than HMGA2 and HMGA1. In these cases, RAD51B fusion seems to be mutually exclusive with other driver aberrations defining molecular leiomyoma subtypes. RAD51B::NUDT3 fusion should be added to the spectrum of fusions which may occur in uterine leiomyoma, which can be of value especially in cellular leiomyoma in the context of differential diagnosis against endometrial stromal tumors.

Uterine smooth muscle tumors with uncertain malignant potential: analysis following fertility-saving procedures.

OBJECTIVE: The aim of this study was to analyze the clinical and reproductive outcomes of patients treated with myomectomy who were histologically diagnosed with uterine smooth muscle tumor of uncertain malignant potential (STUMP). METHODS: Patients who were diagnosed with STUMP and underwent a myomectomy at our institution between October 2003 and October 2019 were identified. Variables of interest obtained from the institution's database included patient age, relevant medical history, pre-operative appearance of the tumor on ultrasound, parameters of the surgical procedure, histopathological analysis of the tumor, post-operative clinical course, and course of follow-up, including reinterventions and fertility outcomes. RESULTS: There were a total of 46 patients that fulfilled the criteria of STUMP. The median patient age was 36 years (range, 18-48 years) and the mean follow-up was 47.6 months (range, 7-149 months). Thirty-four patients underwent primary laparoscopic procedures. Power morcellation was used for specimen extraction in 19 cases (55.9% of laparoscopic procedures). Endobag retrieval was used in nine patients and six procedures were converted to an open approach due to the suspicious peri-operative appearance of the tumor. Five patients underwent elective laparotomy due to the size and/or number of tumors; three patients had vaginal myomectomy; two patients had the tumor removed during planned cesarean section; and two underwent hysteroscopic resection.There were 13 reinterventions (five myomectomies and eight hysterectomies) with benign histology in 11 cases and STUMP histology in two cases (4.3% of all patients). We did not observe any recurrence as leiomyosarcoma or other uterine malignancy. We did not observe any deaths related to the diagnosis. Twenty-two pregnancies were recorded among 17 women, which resulted in 18 uncomplicated deliveries (17 by cesarean section and one vaginal), two missed abortions, and two pregnancy terminations. CONCLUSIONS: Our study found that uterus-saving procedures and fertility-preservation strategies in women with STUMP are feasible, safe, and seem to be associated with a low risk of malignant recurrence, even while maintaining the mini-invasive laparoscopic approach.

Enhanced myometrial vascularity.

OBJECTIVE: Case report of a gynecologically polymorbid patient with enhanced myometrial vascularity, and review of current scientific literature on incidence, dia-gnostic method, and management of this phenomenon. CASE REPORT: A 38-year-old patient that has been treated long-term for secondary sterility with a medical history of laparotomic cytoreduction surgery for adenomyosis and subsequent development and treatment of postoperative intrauterine adhesions. Currently presenting with enhanced myometrial vascularity after spontaneous abortion. For symptomatic prolonged course of the observation period without tendency for spontaneous regression and risk of acute hemorrhage, she was initially indicated for selective embolization of uterine arteries and consecutive definitive treatment via hysteroscopic resection. CONCLUSION: Due to low incidence and tendency for spontaneous resorption, early recognition, and correct management of enhanced myometrial vascularity, it still represents a medical challenge.

Uterus sparing surgery in adenomyosis and its impact on reproductive outcomes.

OBJECTIVE: The purpose of this study was to evaluate the appropriate surgical treatment of adenomyosis and its impact on reproductive outcomes. CONCLUSION: Patients with adenomyosis and fibroids may show a lower pregnancy rate and higher miscarriage rate than healthy individuals. However, there is no standard protocol for their optimal treatment, particularly in pregnancy-seeking or infertile women. Myomectomy is generally a commonly performed procedure that preserves fertility. On the other hand, the role of surgery in extensive uterine adenomyosis remains controversial, because adenomyosis often involves the whole uterus diffusely. It is almost impossible to remove all pathological tissue from the surrounding myometrium. Therefore, this procedure is called debulking/cytoreductive surgery. However, adenomyomectomy has also become a more common type of surgical intervention in recent years.

The role of power morcellation in minimally invasive gynecologic surgery.

OBJECTIVE: To summarize recent data and knowledge of laparoscopic power morcellation. METHODS: Review of articles. RESULTS: Laparoscopic morcellation has been introduced to gynecologic surgery in 90s. In 2014, Food and Drug Administration announced negative statement about the morcellation use due to the risk of potential spreading of malignant tumor cells. This statement reduced utilization of morcellation, especially in the United States. Since that, many health institutions and organizations started new researches focused on the safety of this surgical technique. After a couple of years, the morcellation is considered as a useful tool if certain rules are followed. CONCLUSION: Morcellation has a place in laparoscopic operative procedures even in 2022, in condition of correct selection of patients and possible utilization of contained in-bag morcellation.

Intramyometrial pregnancy after hysteroscopic resection of retained products of conception - a case report.

OBJECTIVE: The aim of this study is to report a case of intramyometrial gravidity after hysteroscopic resection of retained products of conception. CASE REPORT: We report the case of a 35-year old woman who presented at 7 weeks gestation with abdominal pain in the right iliac fossa, having had caesaren section 6 months ago. She underwent hysteroscopic resection of retained products of conception 6 weeks after casesarean section. The woman was submitted to two-and three-dimensional transvaginal ultrasound. Sonography revealed intramural ectopic pregnancy. Subsequently, we decided to perform a laparoscopic artery occlusion and removal of pregnancy with adequate multiple layer closure of the myometrial defect. CONCLUSION: Conservative laparoscopic surgery can be used successfully in patients with intramyometrial pregnancy. Even though the intramural pregnancy is a very rare type of ectopic pregnancy, it should be kept in mind by gynecologists because it can become a life-threatening condition. Early dia-gnosis helps to preserve future fertility.

Hysteroscopic findings after laparoscopic and open myomectomy with or without uterine cavity breach: historical cohort study.

INTRODUCTION: The aim of this study was to evaluate hysteroscopic findings after laparoscopic and laparotomic myomectomy with a focus on the presence of postoperative intrauterine adhesions in groups of patients with and without perioperative uterine cavity breach (UCB). MATERIAL AND METHODS: This is a historical cohort study. Our database was searched to identify patients with UCB during myomectomy and matched the same number of patients after myomectomy without UCB to create a control group. All relevant data were retrieved from our medical records. In both groups, the results of follow-up hysteroscopy were analyzed. RESULTS: Low prevalence of intrauterine adhesions after myomectomy was observed in only 3.5% of the 170 patients in our samples. No significant difference in the occurrence of synechiae between the patients with and without UCB was found (2 vs. 4, RR 0.5, 95% CI 0.1-2.7, p = .341), nor was the difference in other hysteroscopic findings. Follow-up hysteroscopy was performed with slender optics and expandable casing system without need of any anesthesia in 87.1% of cases. CONCLUSIONS: According to our findings, the prevalence of post-myomectomy intrauterine adhesions after myomectomy is low. Our study did not demonstrate that UCB during myomectomy is a risk factor for the formation of intrauterine synechiae.

Comparison of Clinical and Reproductive Outcomes between Adenomyomectomy and Myomectomy.

STUDY OBJECTIVE: Women with adenomyosis may show a lower pregnancy rate and a higher miscarriage rate than healthy women. There is also a general agreement that leiomyomas, either submucosal or intramural, negatively affect fertility, when compared with women without myomas. Some of these women may benefit from adenomyomectomy, however this cytoreductive procedure is considered invasive and technically challenging especially in severe diffuse cases. The study aimed to compare the clinical and reproductive outcomes of patients who underwent adenomyomectomy with those of patients who underwent intramural myomectomy. DESIGN: A retrospective study. SETTING: Department of Obstetrics & Gynecology, Center of Gynecological Endoscopy and Minimally Invasive surgery, First Faculty of Medicine, General University Hospital in Prague. PATIENTS: A total of 55 women who underwent surgical resection of uterine adenomyosis and 55 patients who underwent myomectomy for intramural uterine myomas were included in this study. All study participants wished to retain and possibly improve their reproductive potential. INTERVENTIONS: Between 2004 and 2019, 110 women underwent laparoscopic or open uterus-sparing surgery for clinically significant uterine adenomyosis (group A) or myomas (group B), respectively. MEASUREMENTS AND MAIN RESULTS: Two groups of women who underwent different fertility-saving procedures were compared. Although all women entering the study had declared their wish to conceive, only 28 patients in group A (group A1) and 24 women in group B (group B1) finally aimed toward pregnancy. The mean age and follow-up period was 35.0 years and 76.81 months, respectively, in group A and 34.8 years and 72.5 months, respectively, in group B. The pregnancy and delivery rates were 75.0% and 46.4%, respectively, in group A1 vs 96.0% and 70.8%, respectively, in group B1, with no significant differences between the 2 groups. The open surgical approach was significantly more frequently employed in group A (47.3% vs 16.4%; p <.01). CONCLUSION: In this study, women who underwent surgery involving the uterine muscularity, including myomectomy or adenomyomectomy, had comparable reproductive outcomes, with no significant differences.

Uterine cellular leiomyomas are characterized by common HMGA2 aberrations, followed by chromosome 1p deletion and MED12 mutation: morphological, molecular, and immunohistochemical study of 52 cases.

Cellular leiomyoma (CL) represents an uncommon variant of uterine leiomyoma with limited data concerning its immunohistochemical and molecular profile. We performed a comprehensive analysis of 52 CL cases all of which were analyzed immunohistochemically. Molecular analysis was possible in 32 cases with sufficient DNA, and 38 cases with sufficient RNA. The immunohistochemical results showed a high expression of smooth muscle markers (calponin (100%), desmin (100%), smooth muscle actin (98.1%), caldesmon (96.1%), transgelin (96.1%), smooth muscle myosin heavy chain (86.5%), and smoothelin (61.5%)). Concerning markers of endometrial stromal differentiation, the expression of CD10 was observed in 65.4% cases (42.2% with H-score > 50), and IFITM1 in 36.5% cases (1.9% with H-score > 50). 36.5% showed HMGA2 overexpression at the IHC level, associated with increased mRNA expression in 14/14 cases. The rearrangement of the HMGA2 gene was detected in 13.2%. Chromosome 1p deletion was found in 19.3%, while 9.4% of tumors showed a pathogenic mutation in the MED12 gene. In conclusion, CL is immunohistochemically characterized by a high expression of "smooth muscle" markers commonly associated with a co-expression of "endometrial stromal" markers, where IFITM1 shows superior performance compared to CD10 regarding its specificity for differentiation from endometrial stromal tumors. The sensitivity of smoothelin in CL seems rather low, but no data is available to assess its specificity. On a molecular level, the most common mutually exclusive aberration in CL affects HMGA2, followed by chromosome 1p deletions and MED12 mutations.

Prevention of de novo adhesion formation in patients with Asherman's syndrome.

OBJECTIVE: To summarize recent data and knowledge of secondary prevention of the recurrence of intrauterine adhesions in patients with Ashermans syndrome. METHODS: Analysis of literature evidence and clinical experience of the authors. RESULTS: Ashermans syndrome is iatrogenic disease with problematic therapy. One of the basic issues is a need for repeated surgical interventions since the recurrence of adhesions is very frequent. Secondary prevention is a crucial factor for successful therapy in these patients. The methods applied include second--look hysteroscopy, hormonal treatment and different types of barriers. To compare their efficacy is difficult and the results of meta-analysis are contradictory. CONCLUSION: There are many different possibilities of secondary prevention of the recurrence of intrauterine adhesions; unfortunately, none of them is perfect. The usage of solid or semi-solid barriers in combination with the support of endometrium regeneration with hormonal therapy seems most reasonable.

Parasitic leiomyoma - a case report and review of the literature.

OBJECTIVE: The aim of this study is to report a case of parasitic leiomyoma in a brief literature report. CASE REPORT: A 40-year-old woman was repeatedly examined for chronic abdominal pain in 2020. Lesions presented on CT images showed suspicion of carcinomatosis or endometriosis. Her past history is a laparoscopic myomectomy and hysteroscopic transcervical resection of myoma. CONCLUSION: Parasitic leiomyoma or leiomyomatosis peritonealis disseminata is an extremely rare variant of uterine leiomyoma occurring outside the uterus. According to the International Federation of Gynecology and Obstetric classification, parasitic leiomyoma has been classified as type 8. Previous laparoscopic myomectomy with intraperitoneal morcellation has been implicated in its etiology. The most common symptom - if present, is abdominal pain, pressure, bloating during eating or nausea.