Pulmonary benign metastasizing leiomyoma with concurrent granulomatous inflammation: a diagnostic challenge.
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ABSTRACT:
SUBMITTER: Chen S
PROVIDER: S-EPMC10895137 | biostudies-literature | 2024 Feb
REPOSITORIES: biostudies-literature
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Pulmonary benign metastasizing leiomyoma with concurrent granulomatous inflammation: a diagnostic challenge.
Chen Shihao S Xu Gen G Ye Weitao W Liu Caolin C
Quantitative imaging in medicine and surgery 20240116 2
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Project description:Uterine leiomyoma is the most common benign gynecological tumor. Rarely, it has benign extra-uterine growth patterns, including benign metastasizing leiomyoma (BML), with lungs being the most common metastatic site. We present a case of a 47-year-old female who, 3 years prior to presentation, underwent abdominal supra-cervical hysterectomy for benign leiomyoma. Approximately 6 months prior to presentation, she was seen for shortness of breath and chest pain. A CT of the chest revealed multiple new non-calcified pulmonary nodules bilaterally. PET/CT demonstrated mild FDG uptake in multiple lung nodules, with no significant extra-thoracic sites of abnormal FDG uptake. A CT guided lung biopsy showed a low grade, smooth muscle tumor. Immunohistochemical staining was positive for smooth-muscle actin and desmin, estrogen and progesterone receptor and was negative for CD117, HMB-45, CD34, pan cytokeratin and EMA. She underwent wedge resection of one of the nodules which confirmed the above findings. A cytogenetic analysis was also performed, which was consistent with pulmonary BML. She ultimately underwent left lower lobe resection and was started on a daily aromatase inhibitor. BML is a rare disease usually seen in women of reproductive age. The pathogenesis and treatment remain controversial. BML mostly tends to have an indolent course and a favorable outcome.
| S-EPMC6010632 | biostudies-literature
Project description: Not available
| S-EPMC11250290 | biostudies-literature
Project description:BACKGROUND:Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. CASE PRESENTATION:We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML. Whole exome sequencing (WES) was used to detect somatic mutations in BML lesion. Somatic single nucleotide mutations were identified by comparing the WES data between the pulmonary metastasis and blood sample of the same BML patient. One heterozygous somatic mutation was selected for validation by Sanger sequencing. Clonality of the pulmonary metastasis and uterine leiomyoma was assessed by X-chromosome inactivation assay. CONCLUSIONS:We describe a potentially deleterious somatic heterozygous mutation in bone morphogenetic protein 8B (BMP8B) gene (c.1139A > G, Tyr380Cys) that was identified in the pulmonary metastasis and was absent from blood and uterine leiomyoma, and may play a facilitating role in the metastasizing of BML. The clonality assay confirmed a skewed pattern of X-chromosome inactivation, suggesting monoclonal origin of the pulmonary metastases.
| S-EPMC5793349 | biostudies-literature
Project description:BackgroundPulmonary benign metastasizing leiomyoma (PBML) is the most common extrauterine spread of uterine leiomyoma, and its biological behavior is traditionally thought to be hormone dependent. Studies on older PBML patients have been previously reported, but limited literature has been published regarding the clinical features and treatment of PBML in young women.MethodsA total of 65 cases of PBML in women aged 45 years and younger were reviewed, including 56 cases selected from PubMed and 9 cases from our hospital. The clinical characteristics and management of these patients were analyzed.ResultsThe median age of all the patients at diagnosis was 39.0 years. PBML most commonly presented as bilateral solid lesions (60.9%), with other rare imaging manifestations. The median interval time from a pertinent gynecologic procedure to diagnosis was 6.0 years. A total of 16.7% of patients received careful observation, and all achieved stable status in a median follow-up time of 18.0 months. A total of 71.4% of patients were administered anti-estrogen therapies, including surgical castration (33.3%), gonadotropin-releasing hormone analog (23.8%) and anti-estrogen drugs (14.3%). Eight of 42 patients underwent surgical resection of metastatic lesions. Patients who underwent curative surgery for the removal of pulmonary lesions combined with adjuvant anti-estrogen therapies had favorable outcomes compared with those who only underwent surgical resection. The disease control rates of surgical castration, gonadotropin-releasing hormone analog, and anti-estrogen drugs were 85.7%, 90.0%, and 50.0%, respectively. For two patients, sirolimus (rapamycin) achieved successful relief of symptoms and control of pulmonary lesions without lowering hormone levels and causing estrogen deficiency symptoms.ConclusionsIn the absence of standard treatment guidelines for PBML, maintaining a low-estrogen environment using different kinds of antiestrogen therapies has been the mainstream strategy and has satisfying curative effects. A wait-and-see strategy might be an option, but therapeutic approaches must be contemplated when complications or symptoms progress. For PBML in young women, the negative effect on ovarian function of anti-estrogen treatment, especially surgical castration, should be considered. Sirolimus might be a new treatment option for young PBML patients, especially for those who want to preserve ovarian function.
| S-EPMC10186780 | biostudies-literature
Project description:A 47-year-old woman was admitted with recurrent pneumothorax. Preoperative chest computed tomography (CT) showed multiple lung nodules and cysts bilaterally. She had undergone enucleatic myomectomy 12 years earlier. Video-associated thoracoscopic biopsy was performed. Histopathologically, there were bulla-like dilated cystic changes, the walls of which showed spindle cell proliferation, causing pneumothorax. Hormone therapy was started after benign metastasizing leiomyoma resection; pneumothorax has not recurred in 7 months. Multiple residual lung nodules have decreased or disappeared on CT.
| S-EPMC4176076 | biostudies-other
Project description:Granulomatous mastitis (GM) is a rare benign inflammatory breast disease that affects mostly women of childbearing age with a history of breastfeeding. The etiopathogenesis is still unknown; however, inflammation as the result of a reaction to trauma, metabolic or hormonal processes, autoimmunity, and an infection with Corynebacterium kroppenstedtii have all been implicated. Clinical findings are pain, mass, hyperemia, and inflammation. Because the clinical presentation can mimic infectious mastitis or inflammatory carcinoma, the disease course is often protracted. The diagnosis is made by histopathology. Biopsies show a granulomatous formation in combination with a localized infiltration of multi-nucleated giant cells, epithelioid histiocytes, and plasma cells. Ultrasound, mammography, and magnetic resonance imaging are not specific; however, ultrasound and mammography should be done to exclude other pathologies. Due to the lack of data including randomized controlled studies, the management of GM is controversial. In Western industrialized countries, most authors use a therapy regimen starting with antibiotics and corticosteroids, followed by continuous steroid therapy and surgery in patients with persisting symptoms. More data are needed to define the best therapy. The role of immunotherapy has not yet been ascertained. The implementation of a registry to collect more information on this rare disease is highly recommended.
| S-EPMC6381909 | biostudies-literature
Project description:Uterine leiomyomas are the most common gynecological tumors in premenopausal women. While the lung is the most common extrauterine organ afflicted, benign metastasizing leiomyomas (BML) of the heart are rarities. We report an incidental finding of a cardiac mass in a 36-year-old woman who presented to the Emergency Department after a motor vehicle accident. CT scan of the chest revealed 2 well-circumscribed pulmonary nodules and a filling defect in the right ventricle. Echocardiogram showed a 4 cm mass attached to the right ventricular (RV) septum. The cardiac tumor was resected and showed benign histologic features. Immunohistochemical staining was positive for smooth muscle α-actin and desmin, as well as estrogen and progesterone receptors, consistent with the diagnosis of uterine leiomyoma.
| S-EPMC5987332 | biostudies-literature
Project description: Not available
| S-EPMC11896840 | biostudies-literature
Project description:IntroductionBenign metastasizing leiomyoma (BML) is a rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites. The aetiology of BML remains unexplained. Because BML is rare, and most publications contain descriptions of single cases, no statistically determined time relations were found between the primary and secondary surgeries, which may have aetiological implications.ObjectivesTo determine age before BML surgery, age during diagnosis of BML, type of prior surgery, and location of metastasis based on the literature.MethodsA systematic review of four databases (Medline/PubMed, Embase, Web of Science, and Cochrane) covering articles published from 1 January 1965 to 10 April 2016. The inclusion criteria were full-text articles in English and articles containing case reports. Articles in languages other than English (39), articles containing incomplete data (14), i.e. no information regarding the time of surgery and/or the site of metastasis, articles bereft of case studies (25), and articles with access only to summaries, without access to the complete text (10) were excluded. Of 321 titles identified, only 126 articles met the aforementioned criteria.Results and conclusionsThe mean age during primary surgery and BML diagnosis was 38.5 years and 47.3 years, respectively. The most common surgery was total hysterectomy. The most frequent site of metastasis was the lungs; other organs were affected less frequently.The site of metastases and their number were not related to the longer time span between the patient's initial surgery and occurrence of metastasis. The analysed data, such as the age during primary surgery, age during BML diagnosis, site and type of metastasis, do not provide us a clear answer. Thus, BML pathogenesis is most probably complex in nature and requires further multidirectional research.
| S-EPMC5398563 | biostudies-literature
Project description:BackgroundBenign metastasizing leiomyoma (BML) is a smooth muscle tumour of genital origin occurring in women with a history of uterine or pelvic leiomyoma. Although histologically benign, it exhibits metastatic behaviour. Lungs are the most common site of metastasis. The heart is a rare site and metastasis at this location has been described in just few cases.Case summaryA 42-year-old woman with a resected uterine leiomyoma and a subsequent and still not-resected left periovarian solid mass began complaining of shortness of breath 2 weeks before presentation. Echocardiography showed a mass located in the right ventricular cavity, enlargement of the right ventricle, and severe tricuspid regurgitation. Cardiac magnetic resonance revealed two masses suggestive of tumours in the right ventricle causing right ventricular outflow tract obstruction. Cardiac surgery was performed and, intraoperatively, a third small mass was detected on the tricuspid valve. The masses were resected, and tricuspid valve replacement was performed. Ten days later, the patient underwent an abdominal surgery for the pelvic mass resection. Immunohistochemical analysis of the cardiac and pelvic masses corroborated the diagnosis of benign leiomyomas. The patient was discharged in good clinical condition.DiscussionBenign metastasizing leiomyoma to the heart is a rare condition. The pathogenesis remains controversial and includes: (i) vascular or lymphatic spread of myomatous tissue cells when leiomyoma resection or hysterectomy is performed and (ii) smooth muscle cell proliferation in multiple regions. The more usual locations of BML in the heart seem to be the tricuspid valve and the right face of the interventricular septum.
| S-EPMC7793117 | biostudies-literature