RESUMEN
The narrative review article is focused on the strengths and limitations of modern imaging methods in the preoperative differential diagnosis of uterine mesenchymal tumours. In order to tailor the surgical procedures, imaging methods, namely ultrasound and magnetic resonance imaging (MRI), should be taken into account as well as clinical symptoms, age, and fertility plans. On ultrasound scans, uterine sarcomas have the appearance of large, usually solitary tumours of non-homogenous structure with irregular cysts, ill-defined outline borders (interrupted capsule), absence of calcifications with acoustic shadowing, and moderate to rich internal vascularisation. Rapid growth between follow-ups or atypical growth in peri- or post-menopause is also a sign of malignancy. On MRI, uterine sarcomas are characterized by irregular borders, hyperintense areas on T1-weighted and T2- weighted images, and central non-enhancing necrotic areas. On diffusion-weighted imaging (DWI/MRI), sarcomas exhibit markedly restricted diffusion but there is a significant overlap with some variants of fibroids. Core-needle or hysteroscopic biopsy can be used preoperatively if suspicious features are detected on ultrasound or MRI scans, particularly before myomectomy if fertility preservation is required or when conservative management is considered in asymptomatic women. Other imaging methods, such as positron emission tomography fused with CT (PET-CT) or computed tomography (CT) have limited role to distinguish uterine sarcomas from myomas and are suitable only for staging purposes. The importance of tumour markers including lactate dehydrogenase in preoperative work-up have not been verified yet. Conclusion: Uterine sarcomas can be distinguished from much more common myomas based on a combination of malignant features on ultrasound or MR imaging. In these suspicious cases the type and extent of surgery should be adjusted, avoiding intraperitoneal morcellation, which could lead to iatrogenic tumour spread and worsening of the patient's prognosis.
Asunto(s)
Sarcoma , Neoplasias Uterinas , Humanos , Femenino , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/diagnóstico por imagen , Neoplasias Uterinas/cirugía , Neoplasias Uterinas/patología , Sarcoma/diagnóstico , Sarcoma/diagnóstico por imagen , Sarcoma/cirugía , Diagnóstico Diferencial , Leiomioma/diagnóstico , Leiomioma/diagnóstico por imagen , Leiomioma/cirugía , Ultrasonografía/métodos , Imagen por Resonancia MagnéticaRESUMEN
INTRODUCTION: This was a single-center pilot study that sought to describe an innovative use of 4DryField® PH (premix) for preventing the recurrence of intrauterine adhesions (IUAs) after hysteroscopic adhesiolysis in patients with Asherman's syndrome (AS). MATERIAL AND METHODS: Twenty-three patients with AS were enrolled and 20 were randomized (1:1 ratio) to intrauterine application of 4DryField® PH (n = 10) or Hyalobarrier® gel (n = 10) in a single-blind manner. We evaluated IUAs (American Fertility Society [AFS] score) during initial hysteroscopy and second-look hysteroscopy one month later. Patients completed a follow-up symptoms questionnaire three and reproductive outcomes questionnaire six months later. RESULTS: The demographic and clinical characteristics, as well as severity of IUAs, were comparable in both groups. The mean initial AFS score was 9 and 8.5 in the 4DryField® PH and Hyalobarrier® gel groups, respectively (p = .476). There were no between-group differences in AFS progress (5.9 vs. 5.6, p = .675), need for secondary adhesiolysis (7 vs. 7 patients, p = 1), and the follow-up outcomes. CONCLUSION: 4DryField® PH could be a promising antiadhesive agent for preventing the recurrence of IUAs, showing similar effectiveness and safety to Hyalobarrier® gel. Our findings warrant prospective validation in a larger clinical trial. CLINICAL TRIAL REGISTRY NUMBER: ISRCTN15630617.
RESUMEN
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.
Asunto(s)
Laparoscopía , Tumor de Músculo Liso , Miomectomía Uterina , Neoplasias Uterinas , Humanos , Femenino , Embarazo , Lactante , Preescolar , Cesárea , Tumor de Músculo Liso/patología , Útero/patología , Neoplasias Uterinas/patología , Miomectomía Uterina/efectos adversos , Laparoscopía/métodos , Fertilidad , Estudios RetrospectivosRESUMEN
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.
Asunto(s)
Adenomiosis , Laparoscopía , Leiomioma , Miomectomía Uterina , Neoplasias Uterinas , Adenomiosis/cirugía , Femenino , Humanos , Laparoscopía/métodos , Leiomioma/cirugía , Embarazo , Estudios Retrospectivos , Resultado del Tratamiento , Miomectomía Uterina/métodos , Neoplasias Uterinas/cirugíaRESUMEN
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.
Asunto(s)
Laparoscopía , Leiomioma , Morcelación , Miomectomía Uterina , Neoplasias Uterinas , Femenino , Humanos , Histerectomía/métodos , Laparoscopía/métodos , Leiomioma/cirugía , Morcelación/efectos adversos , Morcelación/métodos , Estados Unidos , Miomectomía Uterina/métodos , Neoplasias Uterinas/patología , Neoplasias Uterinas/cirugíaRESUMEN
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.
Asunto(s)
Adenomiosis , Enfermedades Uterinas , Adulto , Femenino , Humanos , Histeroscopía , Miometrio , Embarazo , Adherencias Tisulares , Enfermedades Uterinas/cirugíaRESUMEN
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.
Asunto(s)
Adenomiosis , Infertilidad Femenina , Leiomioma , Miomectomía Uterina , Adenomiosis/complicaciones , Adenomiosis/cirugía , Femenino , Humanos , Infertilidad Femenina/etiología , Infertilidad Femenina/cirugía , Embarazo , Miomectomía Uterina/efectos adversos , Miomectomía Uterina/métodos , Útero/patología , Útero/cirugíaRESUMEN
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.
Asunto(s)
Laparoscopía , Leiomioma , Enfermedades Uterinas , Miomectomía Uterina , Neoplasias Uterinas , Estudios de Cohortes , Femenino , Humanos , Histeroscopía/efectos adversos , Histeroscopía/métodos , Laparoscopía/efectos adversos , Laparoscopía/métodos , Leiomioma/cirugía , Embarazo , Adherencias Tisulares/epidemiología , Adherencias Tisulares/etiología , Adherencias Tisulares/cirugía , Enfermedades Uterinas/cirugía , Miomectomía Uterina/efectos adversos , Miomectomía Uterina/métodos , Neoplasias Uterinas/cirugíaRESUMEN
INTRODUCTION: This study was designed to evaluate the feasibility and effectiveness of hysteroscopy in the management of symptoms related to endometrial polyps and submucous leiomyomas in women using a levonorgestrel-releasing intrauterine system (LNG-IUS). MATERIAL AND METHODS: Twenty-three LNG-IUS users presenting with endometrial polyps and/or submucous leiomyomas and irregular uterine bleeding were recruited for hysteroscopic examination and surgery. Intrauterine pathology was investigated and treated by hysteroscopic resection with the LNG-IUS in situ, and the effect of the procedure on symptoms was evaluated after three to six months. RESULTS: Intrauterine pathology was successfully resected by hysteroscopy in 23 (100.0%) out of 23 cases. Following hysteroscopy, 18 (78.3%) women reported amenorrhea, one (4.3%) regular spotting, three (13.0%) irregular spotting and one (4.3%) patient resumed normal menstrual cycle. We conclude that 19 (82.6%) patients were postoperatively asymptomatic. All procedures were uncomplicated and 4 (17.4%) were carried out without general anesthesia as office procedures. CONCLUSION: Endometrial polyps and submucous leiomyomas can develop in LNG-IUS users, and this can cause irregular uterine bleeding. Hysteroscopic resection of these pathologies is a feasible method in the clinical management of symptoms.
Asunto(s)
Dispositivos Intrauterinos Medicados , Leiomioma , Pólipos , Neoplasias Uterinas , Femenino , Humanos , Leiomioma/tratamiento farmacológico , Leiomioma/cirugía , Levonorgestrel/uso terapéutico , Pólipos/tratamiento farmacológico , Pólipos/cirugía , Hemorragia Uterina , Neoplasias Uterinas/tratamiento farmacológico , Neoplasias Uterinas/cirugíaRESUMEN
INTRODUCTION: The aim was to compare the surgical experience and the clinical results of laparoscopic myomectomy (LM) with or without pre-treatment with ulipristal acetate (UPA). MATERIAL AND METHODS: Fifty-four women who underwent LM for intramural myomas and were pre-treated with three months of UPA were matched with 54 patients with the same procedure but no hormonal pre-treatment. All operations were performed by one team. The technical features of the procedures were reviewed and evaluated by two other laparoscopists, unaware of the eventual use of UPA. The clinical, histological, and reproductive outcomes of each patient were assessed and the results of both groups were compared. RESULTS: The groups did not significantly differ in operation time, intra-operative blood loss, drop in hemoglobin concentration, number of complications, pregnancy rate, and delivery rate. Women pre-treated with UPA had significantly longer hospital stays, higher numbers of histologically abnormal leiomyomas, and higher rates of fibroids peri-procedurally assessed as soft and disintegrating. The other four technical parameters of LM were comparable in both groups. CONCLUSIONS: The surgeons performing LM in women pre-treated with UPA should be aware of the abnormal texture of enucleated myomas. Nevertheless, this does not negatively affect the other surgical and clinical outcomes of these patients.
Asunto(s)
Laparoscopía , Norpregnadienos , Miomectomía Uterina , Neoplasias Uterinas , Femenino , Humanos , Embarazo , Neoplasias Uterinas/tratamiento farmacológico , Neoplasias Uterinas/cirugíaRESUMEN
The levonorgestrel-releasing intrauterine system (LNG-IUS) is widely used and recommended as a reliable contraceptive. It also acts by opposing the effects of estrogen on the endometrium, thereby preventing development of endometrial hyperplasia and its possible malignant transformation. This case describes a 52-year-old multiparous amenorrhoeic patient who was seen in the gynecology outpatient department for a routine control 46 months after the insertion LNG-IUS as contraception. Hysteroscopy with a target biopsy following suspicious ultrasound scan confirmed well-differentiated endometrioid adenocarcinoma. Ultrasound scan prior to inserting LNG-IUS revealed normal 5 mm thin endometrium with the sharp edges. Uterine bleeding before the LNG-IUS insertion was regular and not excessive and the woman has remained amenorrhoeic after the LNG-IUS insertion. We present a case of the growth of a polyp-shaped endometrial carcinoma in a LNG-IUS asymptomatic user.
Asunto(s)
Carcinoma Endometrioide/diagnóstico por imagen , Anticonceptivos Femeninos/uso terapéutico , Neoplasias Endometriales/diagnóstico por imagen , Dispositivos Intrauterinos Medicados , Levonorgestrel/uso terapéutico , Pólipos/diagnóstico por imagen , Enfermedades Asintomáticas , Biopsia , Carcinoma Endometrioide/patología , Neoplasias Endometriales/patología , Femenino , Humanos , Histeroscopía , Persona de Mediana Edad , Pólipos/patología , UltrasonografíaRESUMEN
BACKGROUND: The efficacy and safety of oral ulipristal acetate for the treatment of symptomatic uterine fibroids before surgery are uncertain. METHODS: We randomly assigned women with symptomatic fibroids, excessive uterine bleeding (a score of >100 on the pictorial blood-loss assessment chart [PBAC, an objective assessment of blood loss, in which monthly scores range from 0 to >500, with higher numbers indicating more bleeding]) and anemia (hemoglobin level of ≤10.2 g per deciliter) to receive treatment for up to 13 weeks with oral ulipristal acetate at a dose of 5 mg per day (96 women) or 10 mg per day (98 women) or to receive placebo (48 women). All patients received iron supplementation. The coprimary efficacy end points were control of uterine bleeding (PBAC score of <75) and reduction of fibroid volume at week 13, after which patients could undergo surgery. RESULTS: At 13 weeks, uterine bleeding was controlled in 91% of the women receiving 5 mg of ulipristal acetate, 92% of those receiving 10 mg of ulipristal acetate, and 19% of those receiving placebo (P<0.001 for the comparison of each dose of ulipristal acetate with placebo). The rates of amenorrhea were 73%, 82%, and 6%, respectively, with amenorrhea occurring within 10 days in the majority of patients receiving ulipristal acetate. The median changes in total fibroid volume were -21%, -12%, and +3% (P=0.002 for the comparison of 5 mg of ulipristal acetate with placebo, and P=0.006 for the comparison of 10 mg of ulipristal acetate with placebo). Ulipristal acetate induced benign histologic endometrial changes that had resolved by 6 months after the end of therapy. Serious adverse events occurred in one patient during treatment with 10 mg of ulipristal acetate (uterine hemorrhage) and in one patient during receipt of placebo (fibroid protruding through the cervix). Headache and breast tenderness were the most common adverse events associated with ulipristal acetate but did not occur significantly more frequently than with placebo. CONCLUSIONS: Treatment with ulipristal acetate for 13 weeks effectively controlled excessive bleeding due to uterine fibroids and reduced the size of the fibroids. (Funded by PregLem; ClinicalTrials.gov number, NCT00755755.).
Asunto(s)
Leiomioma/tratamiento farmacológico , Menorragia/tratamiento farmacológico , Norpregnadienos/uso terapéutico , Receptores de Progesterona/antagonistas & inhibidores , Neoplasias Uterinas/tratamiento farmacológico , Administración Oral , Adulto , Anemia/etiología , Método Doble Ciego , Femenino , Humanos , Análisis de Intención de Tratar , Leiomioma/complicaciones , Leiomioma/cirugía , Menorragia/etiología , Persona de Mediana Edad , Norpregnadienos/administración & dosificación , Norpregnadienos/efectos adversos , Neoplasias Uterinas/complicaciones , Neoplasias Uterinas/cirugía , Útero/patología , Adulto JovenRESUMEN
PURPOSE: Risk factors for post-surgical adhesions following gynaecological surgery have been identified, but their relative importance has not been precisely determined. No practical tool exists to help gynaecological surgeons evaluate the risk of adhesions in their patients. The purpose of the study was to develop an Adhesion Risk Score to provide a simple tool that will enable gynaecological surgeons to routinely quantify the risk of post-surgical adhesions in individual patients. METHODS: A group of European gynaecological surgeons searched the literature to identify the risk factors and the surgical operations reported as carrying a risk of post-surgical adhesions. Through consensus process of meetings and communication, a four-point scale was then used by each surgeon to attribute a specific weight to each item and collective agreement reached on identified risk factors and their relative importance to allow construct of a useable risk score. RESULTS: Ten preoperative and 10 intraoperative risk factors were identified and weighed, leading to the creation of two sub-scores to identify women at risk prior to and during surgery. The Preoperative Risk Score can range from 0 to 36, and the Intraoperative Risk Score from 3 to 31. Several thresholds between these limits may be used to identify women with low, medium, and high risk of post-surgical adhesions. CONCLUSIONS: Gynaecological surgeons are encouraged to use this Adhesion Risk Score to identify the risk of adhesions in their patients. This will allow better informed use of available resources to target preventive measures in women at high risk of post-surgical adhesions.
Asunto(s)
Procedimientos Quirúrgicos Ginecológicos/efectos adversos , Laparoscopía , Complicaciones Posoperatorias/prevención & control , Adherencias Tisulares/prevención & control , Adulto , Anciano , Femenino , Procedimientos Quirúrgicos Ginecológicos/métodos , Humanos , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Valor Predictivo de las Pruebas , Factores de Riesgo , Adherencias Tisulares/etiologíaRESUMEN
OBJECTIVE: To study the effectiveness of a new intrauterine degradable polymer film (Womed Leaf) in the management of moderate to severe intrauterine adhesions (IUA). DESIGN: PREG-2 study was a multicenter, double-blind, randomized, controlled, stratified, two-arm superiority clinical trial conducted in 16 centers in seven countries. SETTING: Not applicable. PATIENT(S): Patients ≥18 years scheduled for hysteroscopic adhesiolysis because of symptomatic severe or moderate adhesions (according to American Fertility Society [AFS] IUA score) were considered eligible for the study. INTERVENTION(S): After adhesiolysis, patients were randomized at a 1:1 ratio to either have a Womed Leaf film inserted (intervention group) or not (control group). MAIN OUTCOME MEASURE(S): The primary effectiveness endpoint of the study was the change in AFS IUA score on second-look hysteroscopy (SLH), assessed by an independent evaluator, and compared with baseline. Information on the rate of no IUA and responder rate was collected as secondary effectiveness outcomes, while reported adverse events and patient-reported outcomes as safety and tolerability measures. RESULT(S): Between October 26, 2021, and September 28, 2023, a total of 160 women were randomized (Womed Leaf: n = 75 and controls: n = 85). The reduction in IUA AFS score on SLH was significantly higher in the intervention compared with the control group (mean 5.2 ± 2.8 vs. 4.2 ± 3.2). Similarly, the absence of adhesions on SLH was significantly higher in the intervention group (41% vs. 24%; odds ratio, 2.44; confidence interval, 1.161-5.116). None of the reported adverse events were serious or considered related to the device. CONCLUSION(S): Womed Leaf is effective and safe in the management of symptomatic severe or moderate IUAs. CLINICAL TRIAL REGISTRATION NUMBER: Clinicaltrials.gov identifier: NCT04963179.
RESUMEN
Fumarate hydratase (FH) is a key enzyme of the Krebs cycle. Germline mutations in the FH gene encoding fumarate hydratase cause autosomal dominant syndromes multiple cutaneous and uterine leiomyomata and hereditary leiomyomatosis and renal cell cancer (HLRCC). Few data have been published on the role of FH gene mutation in development of uterine fibroids outside the context of multiple cutaneous and uterine leiomyomata /HLRCC. We report two FH gene mutations, one novel and one previously described, in two young patients with sporadic uterine fibroids and decreased fumarate hydratase activity in lymphocytes. In patient 1, a novel heterozygous mutation c.892G>C was found. In patient 2 we detected heterozygous mutation c.584T>C. Both the patients had a negative family history for renal cancer and cutaneous leiomyomatosis. None of the relatives, however, underwent renal imaging at the time of writing. FH mutation carriers may be easily identified by analysis of fumarate hydratase activity in blood lymphocytes. We suggest performing fumarate hydratase activity or FH mutation screening in women with onset of uterine fibroids in their 20s and family history of uterine fibroids or other HLRCC-associated malignancies.
Asunto(s)
Fumarato Hidratasa/genética , Leiomioma/genética , Neoplasias Uterinas/genética , Adulto , Femenino , Humanos , Leiomioma/diagnóstico por imagen , Leiomioma/enzimología , Leiomioma/cirugía , Mutación , Resultado del Tratamiento , Ultrasonografía , Miomectomía Uterina , Neoplasias Uterinas/diagnóstico por imagen , Neoplasias Uterinas/enzimología , Neoplasias Uterinas/cirugíaRESUMEN
AIM: This study was designed to evaluate feasibility and effectiveness of hysteroscopic intervention in the management of symptoms related to the displaced levonorgestrel-releasing intrauterine system (LNG-IUS). MATERIAL AND METHODS: One hundred and thirteen patients with displaced LNG-IUS presenting with irregular uterine bleeding, pelvic pain or asymptomatic displacement were recruited for hysteroscopic examination. Displaced LNG-IUS was relocated by hysteroscopic intervention and the effect on symptoms and LNG-IUS position was followed. RESULTS: The displaced LNG-IUS was successfully relocated by hysteroscope in 112 (99.1%) of 113 cases. Following LNG-IUS relocation, 71 (79.8%) patients of 89 with preoperative irregular uterine bleeding had amenorrhea or vaginal spotting, and 14 of 15 (93.3%) patients with preoperative pelvic pain became asymptomatic. LNG-IUS expulsion was recorded in two patients 7 and 21 days after hysteroscopy. CONCLUSION: Displaced LNG-IUS can cause clinical symptoms (e.g. irregular bleeding, pain). Hysteroscopic relocation of displaced LNG-IUS is a feasible method in the management of these symptoms. Risk of spontaneous expulsion associated with hysteroscopy is low.
Asunto(s)
Remoción de Dispositivos/métodos , Histeroscopía , Migración de Dispositivo Intrauterino/efectos adversos , Dispositivos Intrauterinos Medicados/efectos adversos , Levonorgestrel/administración & dosificación , Adulto , Estudios de Cohortes , Remoción de Dispositivos/efectos adversos , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Metrorragia/etiología , Metrorragia/prevención & control , Persona de Mediana Edad , Dolor Pélvico/etiología , Dolor Pélvico/prevención & control , Adulto JovenRESUMEN
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.
RESUMEN
AIM: Several atypical hysteroscopy findings have been described in association with uterine artery embolization (UAE). The purpose of this study was to evaluate the types and frequency of these findings in the largest published series of patients. MATERIAL AND METHODS: Premenopausal patients after bilateral UAE for symptomatic intramural fibroid underwent subsequent hysteroscopic examination 3-9 months following UAE. The uterine cavity was examined with focus on specific post-embolization changes. Biopsy of endometrium was obtained and evaluated together with a biopsy of abnormal foci if present. RESULTS: UAE was performed in a total of 127 women with an average size of dominant fibroid 63.1 mm in diameter and an average patient age of 35.1 years. Even though the majority of patients were asymptomatic at the time of hysteroscopy (78.0%), the post-embolization hysteroscopic examination was normal in only 51 patients (40.2%). The most frequent abnormalities included tissue necrosis (52 women, 40.9%), intracavitary myoma protrusion (45 women, 35.4%), endometrium 'spots' (22.1%), intrauterine synechiae (10.2%) and 'fistula' between the uterine cavity and intramural fibroid (6.3%). Histopathological examination showed normal, secretory or proliferative endometrium in 83.5% patients. Necrosis and/or hyalinization prevailed in the results of biopsy of abnormal loci (45 cases, 35.4%). CONCLUSION: Frequency of abnormal hysteroscopic findings several months after UAE for primary intramural myomas is high. Alarmingly high is the percentage of patients with a histopathologically verified necrosis. Performing hysteroscopy in selected patients after UAE is necessary before eventual surgical re-intervention, especially in women with reproductive plans.
Asunto(s)
Histeroscopía , Leiomiomatosis/cirugía , Embolización de la Arteria Uterina , Neoplasias Uterinas/cirugía , Útero/patología , Adulto , Femenino , Humanos , Leiomiomatosis/patología , Persona de Mediana Edad , Resultado del Tratamiento , Neoplasias Uterinas/patología , Útero/irrigación sanguínea , Útero/cirugíaRESUMEN
Myomectomy is associated with a high risk of de-novo adhesion formation that may decrease fertility. The purpose of this study was to compare the reproductive outcome of patients after laparoscopic or open myomectomy who underwent second-look (SL) hysteroscopy and laparoscopy including adhesiolysis with patients with no SL intervention. A total of 170 patients underwent open or laparoscopic myomectomy at one centre. All patients were recommended SL. Reproductive results were analyzed in 12 and 24 months intervals following myomectomy. Out of 170 post-myomectomy patients 96 signed informed consent with SL (group A) and 74 withheld (group B). The cumulative pregnancy rate in the 24-months follow-up was: 61.4% and 66.7% (p = 0.535) in group A and group B respectively. Adhesions of adnexa were observed and lysed in the overall of 34.0% of patients at the time of SL. Intrauterine synechiae were present in 1.56% of patients at the SL hysteroscopy. No case of uterine rupture during pregnancy or delivery was recorded. Our results show that the pregnancy rate of patients after myomectomy who underwent SL hysteroscopy and laparoscopy is similar to that of patients with no SL procedure. Adhesiolysis performed during SL does not seem to improve the reproductive outcome of post-myomectomy patients.
Asunto(s)
Laparoscopía/métodos , Leiomioma/cirugía , Adherencias Tisulares/epidemiología , Neoplasias Uterinas/cirugía , Adulto , Femenino , Estudios de Seguimiento , Humanos , Histeroscopía/métodos , Infertilidad Femenina/epidemiología , Infertilidad Femenina/etiología , Embarazo , Índice de Embarazo , Adherencias Tisulares/complicaciones , Adherencias Tisulares/etiologíaRESUMEN
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.