Differential diagnosis of uterine adenosarcoma: identification of JAZF1-BCORL1 rearrangement by comprehensive cancer genomic profiling.

BACKGROUND: Uterine adenosarcoma is a rare malignant tumor that accounts for 8% of all uterine sarcomas, and less than 0.2% of all uterine malignancies. However, it is frequently misdiagnosed in clinical examinations, including pathological diagnosis, and imaging studies owing to its rare and non-specific nature, which is further compounded by the lack of specific diagnostic markers. CASE PRESENTATION: We report a case of uterine adenosarcoma for which a comprehensive genomic profiling (CGP) test provided a chance to reach the proper diagnosis. The patient, a woman in her 60s with a history of uterine leiomyoma was diagnosed with an intra-abdominal mass post presentation with abdominal distention and loss of appetite. She was suspected to have gastrointestinal stromal tumor (GIST); the laparotomically excised mass was found to comprise uniform spindle-shaped cells that grew in bundles with a herringbone architecture, and occasional myxomatous stroma. Immunostaining revealed no specific findings, and the tumor was diagnosed as a spindle cell tumor/suspicious adult fibrosarcoma. The tumor relapsed during postoperative follow-up, and showed size reduction with chemotherapy, prior to regrowth. CGP was performed to identify a possible treatment, which resulted in detection of a JAZF1-BCORL1 rearrangement. Since the rearrangement has been reported in uterine sarcomas, we reevaluated specimens of the preceding uterine leiomyoma, which revealed the presence of adenosarcoma components in the corpus uteri. Furthermore, both the uterine adenosarcoma and intra-abdominal mass were partially positive for CD10 and BCOR staining. CONCLUSION: These results led to the conclusive identification of the abdominal tumor as a metastasis of the uterine adenosarcoma. The JAZF1-BCORL1 rearrangement is predominantly associated with uterine stromal sarcomas; thus far, ours is the second report of the same in an adenosarcoma. Adenosarcomas are rare and difficult to diagnose, especially in atypical cases with scarce glandular epithelial components. Identification of rearrangements involving BCOR or BCORL1, will encourage BCOR staining analysis, thereby potentially resulting in better diagnostic outcomes. Given that platinum-based chemotherapy was proposed as the treatment choice for this patient post diagnosis with adenosarcoma, CGP also indirectly contributed to the designing of the best-suited treatment protocol.

Uterine fibroids treatment: do we have new valid alternative? Experiencing the combination of vitamin D plus epigallocatechin gallate in childbearing age affected women.

OBJECTIVE: Uterine myomas are the most common benign tumors in females, and at least 25% of affected patients experience symptoms severe enough to need treatment, like heavy hemorrhage, pelvic pain, and infertility. Currently, a non-invasive approach is preferred in women of childbearing age who desire pregnancy. The aim of our study was to determine the effect of oral supplementation with a combination of vitamin D plus epigallocatechin gallate (EGCG) and vitamin B6 in women with myomas. PATIENTS AND METHODS: Between April and December 2020, we enrolled 95 women of childbearing age, afferent to our hospital, displaying at least one myoma with a diameter <4 cm. Patients were divided in two groups: 41 women were treated daily with two tablets of 25 µg vitamin D + 150 mg EGCG + 5 mg vitamin B6 for 4 months; 54 women, representing the control group, received no treatment. Total volume and vascularization of myomas were analyzed ultrasonographically. Bleeding and pelvic pain was also evaluated, as well as patients' quality of life and health through questionnaire Short Form Health Survey (SF-36) and Patient Global Impression of improvement (PGI-I). RESULTS: After treatment myomas' total volume and peripherical vascularization significantly decreased respectively by 37.9% (p<0.001) and 7.7%. On the other hand, we observed an increase in myomas' volume by 5.5 % and of peripherical vascularization by 5% in the control group. The treated group reported an improvement in SF-36 (p<0.001) and PGI-I (85.4%) questionnaire scores. CONCLUSIONS: We demonstrated, in young women who want to preserve fertility, that the combined supplementation of vitamin D, EGCG, and vitamin B6 reduced myomas' volume and improved patients' quality of life, without side effects.

Fibroma uterino: diagnóstico y tratamiento con medicina natural y tradicional / Uterine fibroma: diagnosis and treatment with natural and traditional medicine

Se realizó una comunicación breve sobre el tratamiento de las pacientes con fibroma uterino a partir de métodos propios de la medicina natural y tradicional, teniendo en cuenta que es un tumor benigno muy común en las intervenidas quirúrgicamente en los servicios de ginecología y cirugía general, con primacía en mujeres de 30 - 50 años, en quienes suelen utilizarse terapéuticas medicamentosas(A)

A brief communication on the treatment of patients with uterine fibroma was carried out based on characteristic methods of natural and traditional medicine, keeping in mind that it is a surgically benign tumor very common in those surgically treated at the gynecology and general surgery services, with predominance in 30 - 50 years women, in whom drug therapy is usually used(AU)

Prospective study of dietary fat and risk of uterine leiomyomata.

BACKGROUND: Uterine leiomyomata (UL) are the primary indication for hysterectomy and are 2-3 times more common in black than white women. High dietary fat intake has been associated with increased endogenous concentrations of estradiol, a sex steroid hormone that is known to influence UL risk. OBJECTIVE: We assessed the relation of dietary fat intake (total, subtypes, and selected food sources) with UL incidence. DESIGN: Data were from the Black Women's Health Study, a prospective cohort study. Over an 8-y period (2001-2009), 12,044 premenopausal women were followed for a first diagnosis of UL. Diet was assessed via a food-frequency questionnaire in 2001. Cox regression models were used to compute incidence rate ratios (IRRs) and 95% CIs with adjustment for potential confounders. RESULTS: During 75,687 person-years of follow-up, there were 2695 incident UL cases diagnosed by ultrasound (n = 2191) or surgery (n = 504). Intakes of total fat and fat subtypes were not appreciably associated with UL risk overall, although statistically significant associations were observed for specific saturated (inverse) and monounsaturated and polyunsaturated (positive) fatty acids. With respect to polyunsaturated fats, the IRR for the highest compared with lowest quintiles of marine fatty acid intake [the sum of omega-3 (n-3) polyunsaturated fatty acids eicosapentanoic acid, docosapentaenoic acid, and docosahexaenoic acid] was 1.18 (95% CI: 1.05, 1.34; P-trend = 0.005). The IRR for the highest compared with lowest categories of dark-meat fish consumption was 1.13 (95% CI: 1.00, 1.28). CONCLUSIONS: In US black women, the most consistent associations of fat intake with UL were small increases in risk associated with intakes of long-chain omega-3 fatty acids. Future studies are warranted to confirm these findings and elucidate which components of fatty foods, if any, are related to UL risk.

Magnetic resonance-guided focused ultrasound myomectomy: safety, efficacy, subsequent fertility and quality-of-life improvements, a systematic review.

We performed a systematic review about studies reporting data of myomectomy performed by magnetic resonance-guided focused ultrasound (MRgFUS) technique in order to define its safety, feasibility, indications, complications, and impact on uterine fibroid symptom and health-related quality of life (UFS-QOL) and fertility. Outcomes were considered according to fibroids shrinkage, nonperfused volume (NPV), NPV ratio, and uterine fibroid symptoms assessed with UFS-QOL questionnaire (baseline 3, 4, 6, and 12 months). We analyzed 38 eligible studies reporting outcomes about 2500 patients (mean age 43.67 years). The MRgFUS results a safe, efficient, and cost-effective minimal invasive technique for treatment of uterine fibroids. Increasing experience, device improvements, and availability for a larger number of patients are enhancing the outcomes, while the obstetrical ones should be more extensively explored. The MRgFUS could be considered as a minimal invasive alternative to traditional surgical or radiological procedures for the treatment of symptomatic uterine myomas improving both QOL and subsequent fertility.

[Non-invasive thermoablation of symptomatic uterine fibroids with magnetic resonance-guided high-energy ultrasound]. / Nichtinvasive Thermoablation symptomatischer Uterusmyome mit MR-gesteuertem hochenergetischem Ultraschall.

Uterine fibroids are the most common benign tumors in postmenopausal women which can cause severe symptoms and considerably reduce the quality of life. Patients are requesting minimally invasive, organ-saving therapies increasingly more often and magnetic resonance-guided focused ultrasound is a promising new technology which even surpasses these requirements as it is a totally non-invasive approach. The possibility of real-time temperature mapping allows a safe and precise thermal ablation of uterine fibroids. The rate of adverse events is low and safety and efficiency have been proven in several clinical studies. Further studies will have to be carried out to demonstrate long-term success and comparability to the established therapies and clarify if focused ultrasound is a safe treatment for women with the desire for future pregnancy. The MR-guided focused ultrasound technique is an effective and gentle treatment for uterine fibroids and holds a great potential for further indications.

Endoscopic alcohol injection therapy of giant gastric leiomyomas: an alternative method to surgery.

Leiomyomas are the most common benign mesenchymal tumours of the upper gastrointestinal tract. They rarely cause symptoms when they are smaller than 5 cm in diameter. Observation with repeated endoscopies is recommended in asymptomatic patients with small lesions. Surgical resection remains the main therapy option for symptomatic and complicated patients. The treatment of esophageal leiomyoma has been enhanced by improvements in diagnostic and therapeutic endoscopic techniques; however, the same cannot be said for gastric leiomyoma management. The present article describes the management of two cases involving giant gastric leiomyomas that were  successfully treated using endoscopic injection of alcohol. To the authors' knowledge, the present study is the first report of the treatment of such hemorrhagic gastric tumours using this alternative and low-cost technique. Endoscopic local ethanol injection may be the treatment of choice in carefully selected patients with hemorrhagic leiomyomas of the upper gastrointestinal tract.

Leiomioma Vesical: presentación de un caso clínico / Vesical Leiomyoma: presentation of a clinical case

El leiomioma vesical es un tumor de origen mesenquimatoso y extremadamente raro. La mayoría de ellos son diagnosticados de manera casual tras el estudio patológico de las muestras remitidas tras la cirugía. Pocos son los casos presentados en la literatura, lo que nos lleva a pensar en la escasa incidencia de este tipo de tumoración. Presentamos un caso acontecido en nuestro servicio, de una paciente femenina de 18 años de edad, que acude a consulta por presentar polaquiuria, ardor y esfuerzo miccional, las exploraciones complementarias realizadas conducen a el tratamiento quirúrgico y seguimiento a que ha sido sometida la paciente.

The vesical leiomyoma is a tumor of mesenchymal origin, and extremely rare. Most of them are diagnosed casually after the pathologic study of samples collected after surgery. Few cases were found in the reviewed literature, leading us to think of the scarce incidence of this kind of tumors. We present a case treated in our service, of an 18-years-old female patient, assisting to our consultation presenting a polaquiuria, ardor and mictional effort. The complementary exams led to the surgical treatment and follow up of the patient.

Leiomioma Vesical: presentación de un caso clínico / Vesical Leiomyoma: presentation of a clinical case

El leiomioma vesical es un tumor de origen mesenquimatoso y extremadamente raro. La mayoría de ellos son diagnosticados de manera casual tras el estudio patológico de las muestras remitidas tras la cirugía. Pocos son los casos presentados en la literatura, lo que nos lleva a pensar en la escasa incidencia de este tipo de tumoración. Presentamos un caso acontecido en nuestro servicio, de una paciente femenina de 18 años de edad, que acude a consulta por presentar polaquiuria, ardor y esfuerzo miccional, las exploraciones complementarias realizadas conducen a el tratamiento quirúrgico y seguimiento a que ha sido sometida la paciente(AU)

The vesical leiomyoma is a tumor of mesenchymal origin, and extremely rare. Most of them are diagnosed casually after the pathologic study of samples collected after surgery. Few cases were found in the reviewed literature, leading us to think of the scarce incidence of this kind of tumors. We present a case treated in our service, of an 18-years-old female patient, assisting to our consultation presenting a polaquiuria, ardor and mictional effort. The complementary exams led to the surgical treatment and follow up of the patient(AU)

[Quality control and quality of life after uterine fibroid embolization: long-term results]. / Erfolgskontrolle und Lebensqualitat nach Myomembolisation: Langzeitergebnisse.

This study was performed in order to evaluate the changes in uterine fibroid symptoms and their impact on the quality of life after uterine fibroid embolization (UFE). The patients source of information about this novel treatment and their reasons for choosing UFE were also studied. Health-related quality of life and the status of uterine fibroid symptoms were assessed in 44 patients before and after treatment using a validated questionnaire. After 33.5 months on average, a significant change in symptoms of -60.4% and a change in health-related quality of life of +74.39% were reported. Over 50% of patients had heard about UFE for the first time through the media, and 62.9% of patients had opted for this form of treatment because it enabled them to keep their uterus; 91.5% of patients would recommend it. UFE is a novel, effective and minimally invasive alternative to more invasive, open or laparascopic treatment procedures in cases of uterine fibroid symptoms.

[Good practice and accuracy of office hysteroscopy and endometrial biopsy]. / Bonne pratique et valeur diagnostique de l'hystéroscopie diagnostique et des prélèvement histologiques.

Office hysteroscopy may be performed without anaesthesia. Endometrial biopsy can be performed during hysteroscopy. Antalgics or other treatment to reduce discomfort are not indicated. Prophylactic antibiotics are not indicated. Diagnostic value of hysteroscopy for endometrial pathology is interesting. Pipelle is the most appropriate instrument for endometrial biopsy.

Leiomioma vesical. A propósito de dos casos y revisión de la literatura / Bladder leiomyoma. Report of two new cases and bibliographic review

Objetivo: Los tumores mesoteliales primarios de la vejiga son entidades raras, y de entre ellos el más frecuente es el leiomioma vesical, que puede crecer sin apenas manifestaciones clínicas o muy inespecíficas. Métodos: Presentamos el caso de un leiomioma vesical en dos pacientes y la revisión de la literatura. Resultados: El tratamiento fue mediante una resección transuretral, la evolución excelente y el seguimiento en consultas externas tras más de 5 años sin incidencias. Conclusiones: El abordaje quirúrgico sigue siendo la mejor solución, de fácil ejecución y con un porcentaje escaso de complicaciones. El pronóstico es bueno en cualquier caso y las recidivas son anecdóticas (AU)

Objective: Primary mesothelial tumors of the bladder are rare entities, being leiomyoma the most frequent of them. It may grow without any clinical symptoms or with very unspecific ones. Methods: We report two cases of bladder leiomyoma in 2 patients, and performed a bibliographic review. Results: They were treated by transurethral resection, with an excellent outcome, without incidences over five years of follow-up. Conclusions: Surgical treatment continues to be the best solution; it is easy to perform and has a very limited number of complications. Prognosis is good in any case and progression is anecdotic (AU)

[Manganese and selenium content in plasma of women with uterine myoma].

OBJECTIVE OF THE STUDY: To determine plasma concentration of manganese and selenium in women with uterine fibroids. MATERIALS AND METHODS: The study included 22 women with uterine fibroids (group A) and a control group of 25 women (group B). Flame atomic-absorbable spectrometry was used for the purpose of the study. The patients were admitted in the Clinic of Gynaecology of UMPHAT "Dr. G. Stransky" in the period 01.01.2007-01.07.2007. RESULTS AND DISCUSSION: No significant difference was found between the plasma concentrations of manganese in group A and B. Selenium plasma concentration of group A was determined as significantly lower in comparison with that of group B. The obtained results can serve as a precondition for investigations on a larger scale.

Biomagnetism in gynaecologic oncology. Our experience in Greece.

Our experience in the application of biomagnetism in gynaecologic oncology is presented. We provide a brief description of our research work in the investigation of biomagnetic activity in benign and malignant ovarian and breast diseases, and an evaluation of uterine myomas, providing a new approach of biomagnetism as a non invasive imaging modality for assessing gynaecologic tumours.

Perforación uterina por mioma necrosado en el puerperio / Perforation of the uterus due to myoma infarction in the puerperium

Se presenta el caso de una puérpera que acudió a urgencias 13 días después del parto por dolor abdominal y vómitos. Ante la presencia de un abdomen agudo se realizó una laparotomía y se evidenciaron 2 miomas necrosados, uno de los cuales había perforado el útero (AU)

Diagnosis and surgical treatment of esophageal leiomyoma.

OBJECTIVE: To study the characteristics of diagnosis and surgical treatment of esophageal leiomyoma. METHODS: Preoperative radiology, esophagoscopy and results of surgical treatment were retrospectively analyzed in 141 patients with esophageal leiomyoma. RESULTS: Dysphagia (64.5%) and chest or epigastric pain (20.6%) were the most common presenting symptoms with a mean duration of 15.7 months. Eleven patients had been misdiagnosed as malignant esophageal disease, mediastinal or retroperitoneal tumor before operation. Thirteen patents received partial esophageal resection, including 2 patients with gigantic tumor, 3 still misdiagnosed as malignancy in the operation theater and 8 accompanied with esophageal or gastric cardiac carcinoma. 128 patients were treated with tumor removal only, among whom the esophageal mucosa was ruptured and sutured in 13 patents. The tumor was single in 130 patients and multiple in 11 patients. The tumor shape was either oval, horseshoe-or ginger-like. Tumor surrounded the esophagus less than half circumference in 75 patients, more than half in 59 patients and involved the whole circumference in 7 patients. The tumor was polypoid and intraluminal in one patient. It was extraluminal in 2 patients and was intramural in all the others. The morbidity and 30-day mortality rates were 3.6% and 0%. CONCLUSION: Preoperative differentiation of esophageal leiomyoma is important for it may be misdiagnosed as esophageal malignant disease or mediastinal tumor. Tumor removal only is indicated if possible. Biopsy is inadvisable if leiomyoma has been suspected by esophagoscopy. The incidence of esophageal carcinoma complicating esophageal leiomyoma is high, of which the reason needs further study.

New therapeutic technique for treatment of uterine leiomyomas using laser-induced interstitial thermotherapy (LITT) by a minimally invasive method.

BACKGROUND AND OBJECTIVE: This study was undertaken to see if uterine leiomyomas would respond to LITT, as had certain other tumours, and leave behind a uterus capable of child bearing. STUDY DESIGN/MATERIALS AND METHODS: Preliminary research to determine laser power and energy requirements to coagulate leiomyomas was carried out on such tumours at the time of myomectomy or hysterectomy. The information gleaned permitted subsequent volunteer patients to be treated by a minimally invasive route. LITT was employed to treat 300 patients, 293 of them with the KTP/YAG laser with a bare fibre laparoscopically or through the hysteroscope. The remaining seven were treated with the Diode laser, five of them being treated percutaneously with fibre splitter and four fibres. RESULTS: Symptomatic patients (300) with 950 myomas between them were treated. Follow-up has been between 6 months and 6 years. No significant complications occurred, and the procedure(s) were successful in 294 patients. CONCLUSIONS: It is the treatment of choice for those leiomyomas that are difficult to remove because of their size or position. Fertility is enhanced, oestrogen receptors and epidermal growth factor are destroyed, and healing occurs without scarring.

[Optimizing pelvic MR diagnosis with a new gastrointestinal contrast medium]. / Optimierung pelviner MR-Diagnostik durch eine neues gastrointestinales Kontrastmittel.

AIM: Optimization of pelvic MRI by a new concept of water-equivalent bowel contrast agent. METHODS: We performed contrast enhancement of the bowel by oral application of 1000 ml of an aqueous mannitol solution one hour before pelvic MRI. In addition we performed an enema by 250 ml of water in one patient. RESULTS: Oral and rectal contrast enhancement of the bowel was tolerated without complications by our patients. Pelvic MRI was improved by a better delineation of the bowel. CONCLUSION: The concept of water-equivalent bowel enhancement is promising. It must be assessed by further studies; in particular, it must be compared with the available concepts of positive and negative bowel contrast enhancement.

Leiomyoma of the duodenum--a case report.

A 36-year-old man with anemia due to gastrointestinal bleeding, diagnosed to have a leiomyoma of the duodenum, is described. The conventional barium meal study and gastroendoscopy were useful for diagnosing the lesion. More invasive radiological methods, such as abdominal angiography and technetium-99m scintigraphy failed to detect the tumor. Early diagnosis and resection of the tumor would result in a good prognosis.