• Benign metastasizing leiomyoma
• Intravenous leiomyomatosis
• Mutations in genes
• Pathology
• Whole exome sequencing

• Cardiac benign metastatic leiomyoma
• Cardiac tumors
• Genetic studies
• Surgical treatment

• Humans
• Female
• Leiomyoma/pathology
• Leiomyoma/genetics
• Uterine Neoplasms/pathology
• Uterine Neoplasms/genetics
• Middle Aged
• Lung Neoplasms/secondary
• Lung Neoplasms/genetics
• DNA-Binding Proteins/genetics
• rab2 GTP-Binding Protein/genetics
• Oncogene Proteins, Fusion/genetics
• Cell Transformation, Neoplastic/genetics
• Cell Transformation, Neoplastic/pathology

• PBML
• diagnosis
• hormone therapy
• postmenopausal
• pulmonary benign metastasizing leiomyoma

• cardiac masses
• outcomes
• treatment planning

• Female
• Humans
• Adult
• Spine/diagnostic imaging
• Leiomyoma/diagnosis
• Leiomyoma/surgery
• Brain
• Thorax
• Hysterectomy

• benign metastasizing leiomyoma
• cord compression
• extrauterine leiomyoma
• gnrh agonist
• leiomyoma
• leuprolide

• Benign
• Case report
• Hysterectomy
• Leiomyoma
• Metastatic
• Solid pulmonary nodule

• Carcinogenesis
• Drugs: obstetrics and gynaecology

• Female
• Humans
• Uterine Neoplasms/pathology
• Lung Neoplasms/complications
• Goserelin
• Leiomyoma/diagnostic imaging
• Leiomyoma/genetics
• Leiomyoma/complications
• Lung/pathology
• Mutation
• Exons
• Chromosomal Proteins, Non-Histone
• GTPase-Activating Proteins

Aim: Desmoplastic infantile ganglioglioma (DIG), is a rare tumor arising mainly during the first 2 years of life. Molecular characterization of these benign yet rapidly proliferating tumors has been limited to evaluating a few mutations in few genes. Our aim was to establish a live cell culture to enable the understanding of the cellular processes driving the non-malignant growth of these tumors.

Methods: Tumor tissue from a rare non-infantile 8-year-old female DIG patient was dissociated and digested using collagenase to establish live cultures. Both 2D monolayer and 3D neurospheres were successfully cultured and characterized for proliferative potential, intrinsic plasticity, presence of cancer stem cells and the expression of stem cell markers. Cells cultured as 3D were embedded as tissue blocks. Immunohistochemistry was performed in both tissue and 3D sections for markers including synaptophysin, vimentin, neurofilament and MIB-1. Mutation analysis by NGS was performed using a-100 gene panel.

Results: Using immunohistochemistry, the 3D cultures were shown to express markers as in the original DIG tumor tissue indicating that the spheroid cultures were able to maintain the heterogeneity found in the original tumor. Cells continued proliferating past passage 10 indicative of immortalization. Enrichment of cancer stem cells was observed in neurospheres by FACS using CD133 antibody and RT-PCR. Mutation analysis indicated the presence of germline mutations in three genes and somatic mutations in two other genes.

Conclusion: A spontaneous cell line-like cell culture with high percentage of stem cells has been established from a DIG tumor for the first time.

• CD133+
• brain cancer cell
• cancer stem cell (CSC)
• desmoplastic infantile ganglioglioma
• glioma
• neurosphere

Disseminated peritoneal leiomyomatosis (DPL) with myxoid leiomyosarcoma is a rare variant of leiomysosarcoma, and hematuria as a presenting symptom has never been reported. Through this case report, we emphasize the investigation of the etiology, clinical presentation, diagnosis, treatment, and prognosis of DPL with malignant changes mimicking metastatic urinary tract cancer and to help develop further clinical management.

We describe a case of DPL with malignant transformation involving the right ureter after laparoscopic hysterectomy. An exploratory laparotomy was performed and all visible nodules were surgically removed. DPL with focal malignant transformation to myxoid leiomyosarcoma was confirmed based on pathology results.

Professionals who preoperatively diagnose DPL with malignant change to myxoid leiomyosarcoma involving the genitourinary tract should consider symptoms of abdominal pain, hematuria, and imaging of disseminated pelvic tumors in women, especially those with prior history of laparoscopic hysterectomy. Early complete removal of all tumors is the cornerstone to prevent DPL from malignant changes.

• Disseminated peritoneal leiomyomatosis
• Leiomyosarcoma
• Laparoscopic hysterectomy
• Hematuria
• Ureteroneocystostomy
• Case report

Primary biphasic tumors of the lung are rare. Lung lesions with a biphasic pattern are far more commonly primary or metastatic soft tissue tumors with entrapped native respiratory epithelium, giving the false impression of a biphasic tumor. We report a case of bilateral benign metastasizing leiomyomas in a 69-year-old female where the tumor cells diffusely entrapped native respiratory glands in a phyllodes-like pattern. The radiographic characteristics and histologic appearance were not immediately diagnostic and covered a wide differential. Reaching the final diagnosis required the use of immunohistochemical studies as well as correlation with the patient's history and radiographic findings. To the best of our knowledge, this is the first report of pulmonary benign metastasizing leiomyoma presenting in a phyllodes-like pattern. This case illustrates the importance of considering entrapment of native lung epithelium in the differential diagnosis of biphasic-appearing lung tumors.

• benign metastasizing leiomyoma
• biphasic tumors of the lung
• mimics of lung tumors
• pulmonary tumors

• Pleural leiomyoma
• primary pulmonary leiomyoma
• pulmonary benign metastasizing leiomyoma

• Humans
• Leiomyoma/diagnostic imaging
• Leiomyoma/surgery
• Middle Aged
• Neoplasm Recurrence, Local
• Pleura/diagnostic imaging
• Pleura/surgery
• Pleural Neoplasms/diagnostic imaging
• Pleural Neoplasms/surgery
• Tomography, X-Ray Computed

Benign metastasizing leiomyoma (BML) is a rare spindle cell neoplasm seen in middle-aged women who have a history of leiomyoma of the uterus. The most common sites of metastases are the lungs; however, other sites of spread have been documented. These tumors by definition have no malignant features on histology and tend to be estrogen and progesterone positive. We present a middle-aged woman who was incidentally found to have multiple pulmonary nodules and a mass on her sternum after she was involved in a motor vehicle accident. She had a history of uterine leiomyoma and had undergone a hysterectomy ten years prior to the accident. Biopsies were performed of the lung nodules and sternum mass and compared to her hysterectomy specimen, and they were identical, and hence, she was diagnosed with BML. Due to the growing tumor of her sternum, she was started on tamoxifen with stability of her tumors. These tumors, since they are benign, tend to have an indolent course. However, in the instances that treatment is warranted, options include surgery or antiestrogen therapy. We will be discussing the pathogenesis, histological findings, and treatment options of this rare condition. Our case is unique because BML in general do not tend to spread to multiple organs and tend to be limited to one site of disease.

• Benign metastasizing leiomyoma
• Surgery
• Uterine leiomyoma
• miRNA

• Adult
• Aged
• Aged, 80 and over
• Biomarkers, Tumor/genetics
• Biomarkers, Tumor/metabolism
• Female
• Humans
• Leiomyoma/genetics
• Leiomyoma/metabolism
• Leiomyoma/pathology
• Lung Neoplasms/genetics
• Lung Neoplasms/metabolism
• Lung Neoplasms/pathology
• Lung Neoplasms/secondary
• MicroRNAs/genetics
• MicroRNAs/metabolism
• Middle Aged
• Receptors, Estrogen/metabolism
• Receptors, Progesterone/metabolism
• Uterine Neoplasms/pathology

Pulmonary benign metastatic leiomyoma (PBML), which is very rare, is a type of benign metastatic leiomyoma (BML). Here, we report a case of PBML, finally diagnosed through multidisciplinary team (MDT) discussions, and provide a literature review of the disease.

A 55-year old asymptomatic woman was found to have bilateral multiple lung nodules on a chest high-resolution computed tomography (HRCT) scan. Her medical history included total hysterectomy for uterine leiomyoma. The patient was diagnosed with PBML, on the basis of her clinical history, imaging manifestations, and computed tomography (CT)-guided percutaneous lung puncture biopsy, via MDT discussions. As the patient was asymptomatic, she received long-term monitoring without treatment. A follow-up of chest HRCT after 6 mo showed that the PBML lung nodules were stable and there was no progression.

For patients with a medical history of hysterectomy and uterine leiomyoma with lung nodules on chest CT, PBML should be considered during diagnosis based on the clinical history, imaging manifestations, CT-guided percutaneous lung puncture biopsy, and MDT discussions.

• Pulmonary benign metastatic leiomyoma
• Multidisciplinary team
• Computed tomography-guided percutaneous lung puncture biopsy
• Case report
• Benign metastatic leiomyoma
• Lung nodule

• Metastasis
• Metastasizing ameloblastoma
• Recurrence
• Survival

• angiogenesis
• differentially expressed genes
• high-throughput whole transcriptome resequencing
• intravenous leiomyomatosis

• Apoptosis/genetics
• Case-Control Studies
• Female
• Humans
• Immunohistochemistry
• Leiomyomatosis/blood supply
• Leiomyomatosis/diagnostic imaging
• Leiomyomatosis/genetics
• Leiomyomatosis/pathology
• Middle Aged
• Neovascularization, Pathologic/genetics
• RNA-Seq/methods
• Reverse Transcriptase Polymerase Chain Reaction
• Uterine Neoplasms/blood supply
• Uterine Neoplasms/diagnostic imaging
• Uterine Neoplasms/genetics
• Uterine Neoplasms/pathology
• Vascular Neoplasms/blood supply
• Vascular Neoplasms/diagnostic imaging
• Vascular Neoplasms/genetics
• Vascular Neoplasms/pathology
• Exome Sequencing

• Beijing Municipal Natural Science Foundation
• National Natural Science Foundation of China

• Uterine smooth muscle tumors
• number of fibroids
• parasitic leiomyomas
• power morcellation
• review
• risk assessment

• Intracranial
• Intraventriculer
• Leiomyoma
• Magnetic resonance imaging

• ct
• mediastinum
• metastatic
• pet/ct
• pulmonary
• uterine leiomyoma

• Adult
• Female
• Humans
• Image-Guided Biopsy
• Leiomyoma/pathology
• Leiomyoma/surgery
• Lung Neoplasms/diagnostic imaging
• Lung Neoplasms/secondary
• Lung Neoplasms/surgery
• Mediastinal Neoplasms/diagnostic imaging
• Mediastinal Neoplasms/secondary
• Mediastinal Neoplasms/surgery
• Uterine Neoplasms/pathology
• Uterine Neoplasms/surgery

• IVC
• Uterine leiomyoma
• fibroid
• intracardiac extension
• intravascular extension

• alpha-thalassemia/mental retardation syndrome X-linked (ATRX),death domain-associated protein (DAXX)
• alternative lengthening of telomeres (ALT)
• benign metastasizing leiomyoma
• uterine leiomyoma
• uterine leiomyosarcoma

• Benign metastasizing leiomyoma (BML)
• adenocarcinoma
• lung

Intravenous leiomyomatosis (IVL) and benign metastasizing leiomyoma (BML) are uncommon variants of benign uterine leiomyomas with extrauterine manifestations. Categorizing the extent of disease allows clinicians to delineate the clinical spectrum and the level of sophistication for complete surgical resection.

Twelve patients with IVL and BML were reviewed. They were divided into early versus late stage disease groups, and initial manifestation, clinical characteristics, laboratory values, surgical pathology, and follow up data were summarized.

Patients were mostly pre- or peri-menopausal and parous. Patients with late stage disease were more likely to present with cardiac symptoms or abnormal findings on chest X-ray, whereas those with early stage disease presented with classical leiomyoma symptoms including heavy menstrual bleeding, increased myoma size, or lower abdominal discomfort. Tumor marker levels were within normal ranges. A trend of higher neutrophil to leukocyte ratio was observed in the late versus the early stage group (10.4 vs. 1.51, P=0.07); the platelet leukocyte ratio was statistically higher in patients with late stage IVL (0.23 vs. 0.13, P=0.04). The overall recurrence rate was 25%. No recurrence was observed in stage I or stage III IVL groups, while 50% of the stage II IVL group showed recurrence in the pelvic cavity.

IVL and BML are benign myoma variants with paradoxically metastatic clinical presentation. Careful inquiry of systemic symptoms, the presence of underlying systemic inflammation, and a high index of suspicion are required for preoperative diagnosis. Furthermore, a multidisciplinary approach is necessary to improve outcomes of surgical resection.

• Leiomyoma, uterine
• Leiomyomatosis
• Neoplasm metastasis
• Smooth muscle tumor

• benign metastasizing leiomyoma
• clonality
• massively parallel sequencing
• molecular inversion probe array

• Benign metastasizing leiomyoma
• Driver gene
• Targeted deep sequencing
• Uterine leiomyoma

A 49-year-old female with history of uterine leiomyoma and intermittent shortness of breath presented to the emergency department with new onset of tachycardia and chest pain. Subsequent cardiac work up revealed hypoechoic mass compressing the right ventricle. Computer tomography guided biopsy for tissue characterization revealed a benign spindle cell tumor. Surgical resection of a large epicardial tumor was undertaken. The histologic examination of the tumor was consistent with Estrogen and Progesterone positive leiomyoma of uncertain malignant potential. To the authors’ knowledge, this is the first case report of a metastasizing epicardial leiomyoma that exhibits an unknown malignant potential. This case brings together common gynecologic disorder with complex thoracic surgery diagnosis and management. Differential diagnosis of cardiac tumors in patients with history of uterine leiomyoma should include metastasizing leiomyoma. The mainstay of therapy is surgical resection with immediate symptom relieve.

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.

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.

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.

The online version of this article (10.1186/s12881-018-0537-5) contains supplementary material, which is available to authorized users.

• BMP8B
• Benign metastasizing leiomyoma
• Endometriosis
• GnRH agonists
• Pulmonary lesion
• Somatic gene mutation

• Adult
• Female
• Humans
• Leiomyoma/pathology
• Leiomyoma/surgery
• Middle Aged
• Neoplasm Metastasis
• Uterine Neoplasms/pathology
• Uterine Neoplasms/surgery

• Estrogen
• Leiomyomas
• Metastasis
• Rare lung disease
• Smooth muscle cells

Benign metastasizing leiomyoma (BML) is a rare disease that occurs in middle-aged women with a history of uterine myomas. The most common location of BML is the lungs.

We report the case of a 44-year-old obese woman (BMI 45.5) who underwent surgery to remove uterine leiomyomata and then continued to take a drug containing the hormone estradiol for a period of 15 years. Computed tomography chest examinations revealed multiple size nodules of varying size in both lungs. Videothoracoscopy and right thoracotomy was performed, and a few nodules were enucleated from each lobe of the right lung. Postoperative histopathological examination revealed benign metastasizing leiomyoma staining positive for estrogen and progesterone receptors (ER+, PR+). Because of the hormonally dependent cell proliferation, the previously used hormonal drug was discontinued. Treatment with a gonadotropin-releasing hormone analog was included, yielding radiological stabilization of the lung lesions.

• BML
• benign metastasizing leiomyoma
• uterine myomas

Benign metastasizing leiomyomatosis (BML) is a rare cause of pulmonary lesions found in reproductive age women who have undergone a hysterectomy for uterine leiomyoma. Given the relative rarity of the disease, the management of these lesions varies from surgical (oopherectomy) or medical antiestrogen hormonal therapy to clinical observation and survelliance. The disease generally presents asymptomatically with multiple, well-defined pulmonary nodules discovered incidentally on imaging. We report an atypical presentation of a 46-year-old woman with incidentally found bilateral pulmonary cavitating nodules and cysts, concerning for lymphangioleiomyomatosis (LAM), who was ultimately diagnosed with BML.

• BAL, Bronchoalveolar lavage
• BML, Benign metastasizing leiomyomatosis
• Benign metastasizing leiomyomatosis (BML)
• Benign or congenital lesions
• CTPA, Computed tomography pulmonary angiogram
• ER, Estrogen receptor
• GnRH, Gonadotropin-releasing hormone
• HMB-45, Human melanoma black-45
• LAM, Lymphangioleiomyomatosis
• Lung histology
• Lung pathology
• Lymphangioleiomyomatosis (LAM)
• POD, Post-operative day
• PR, Progesterone receptor
• SMA, Smooth muscle actin
• VATS, Video-assisted thoracoscopic surgery