Benign Smooth Muscle Tumors Research Articles

LEIOMYOMA OF THE ORAL CAVITY: A SERIES OF 8 CASES

Leiomyomas are benign smooth muscle tumors that are uncommon in the oral cavity. The purpose of this study was to present the clinicopathologic features of a series of 8 cases of oral leiomyomas from 2 Brazilian and 1 Argentinian oral pathology service. The patients’ age at diagnosis varied from 28 to 67 years, and similar frequency in male and female patients was observed (1:1). The most commonly involved sites were lip and palate. The tumors manifested as slow-growing, asymptomatic, solitary swelling. Microscopic analysis revealed similar pattern in all cases with bundles or fascicles of spindle-shaped cells. The most common histologic subtype was angioleiomyoma. Immunohistochemical evaluation revealed positivity for smooth muscle markers. All patients underwent excision of the tumor, and no recurrence was observed. Although diagnosis is usually done on histologic analysis, immunohistochemistry is a useful tool to differentiate oral leiomyomas from other spindle cell lesions. Support: FAPEMIG. Leiomyomas are benign smooth muscle tumors that are uncommon in the oral cavity. The purpose of this study was to present the clinicopathologic features of a series of 8 cases of oral leiomyomas from 2 Brazilian and 1 Argentinian oral pathology service. The patients’ age at diagnosis varied from 28 to 67 years, and similar frequency in male and female patients was observed (1:1). The most commonly involved sites were lip and palate. The tumors manifested as slow-growing, asymptomatic, solitary swelling. Microscopic analysis revealed similar pattern in all cases with bundles or fascicles of spindle-shaped cells. The most common histologic subtype was angioleiomyoma. Immunohistochemical evaluation revealed positivity for smooth muscle markers. All patients underwent excision of the tumor, and no recurrence was observed. Although diagnosis is usually done on histologic analysis, immunohistochemistry is a useful tool to differentiate oral leiomyomas from other spindle cell lesions. Support: FAPEMIG.

ANGIOLEIOMYOMA OF THE ORAL CAVITY: REPORT OF 4 NEW CASES

Angioleiomyoma (ALM) is a benign smooth muscle tumor that occasionally affects the oral cavity, mainly the lips and hard palate of adults. We report the clinicopathologic features of 4 new cases of oral ALM. There were 2 women and 2 men with mean age of 54 years (range, 34–73 years). The clinical presentation of tumors was asymptomatic, slow-growing small nodules with color varying from normal to bluish, affecting the lower lip, hard palate, lingual frenulum, and maxillary fold. Microscopically, proliferation of fascicles of smooth muscle cells with pale, eosinophilic, and vacuolated cytoplasm and elongated nuclei were observed in a whorled pattern around a central endothelium-lined space. All patients were submitted to conservative surgical removal, and no signs of recurrence were observed. Oral ALM is uncommon and should be considered in the clinical differential diagnosis of solitary dome-shaped nodules of the oral cavity. Angioleiomyoma (ALM) is a benign smooth muscle tumor that occasionally affects the oral cavity, mainly the lips and hard palate of adults. We report the clinicopathologic features of 4 new cases of oral ALM. There were 2 women and 2 men with mean age of 54 years (range, 34–73 years). The clinical presentation of tumors was asymptomatic, slow-growing small nodules with color varying from normal to bluish, affecting the lower lip, hard palate, lingual frenulum, and maxillary fold. Microscopically, proliferation of fascicles of smooth muscle cells with pale, eosinophilic, and vacuolated cytoplasm and elongated nuclei were observed in a whorled pattern around a central endothelium-lined space. All patients were submitted to conservative surgical removal, and no signs of recurrence were observed. Oral ALM is uncommon and should be considered in the clinical differential diagnosis of solitary dome-shaped nodules of the oral cavity.

VASCULAR LEIOMYOMA MIMICKING A LIPOMA

Vascular leiomyoma is a benign solitary smooth muscle tumor that occurs more often in the lower extremity. A 21-year-old white woman presented a well-circumscribed, subcutaneous, solitarym moveable, painless, soft swelling in left cheek for the last 3 years. Previous trauma and past medical and medication histories were noncontributory. No abnormalities in the overlying oral mucosa were seen. Initial diagnosis was lipoma, and other examinations were requested. The ultrasonography image revealed a mass compatible with an accessory parotid with signs suggestive of sialadenitis, and computed tomography revealed a lesion located below the hypodermis anterior to the masseter muscle and the left parotid gland, suggesting salivary gland tumor. Incisional biopsy showed vascular leiomyoma. Surgical extraoral approach included complete excision guided by the topography of the nodule and to reduce the probability of lesion of the buccal branch of the facial nerve. The initial diagnosis was confirmed, and the patient is free of recurrence.

ORAL LEIOMYOMA: UNUSUAL CLINICAL MANIFESTATION OF A RARE LESION

Oral leiomyoma is a benign smooth muscle neoplasm of rare incidence, described as an asymptomatic nodule. We report a case of solid leiomyoma with a distinctive clinical manifestation in the anterior tongue. A 46-year-old woman complained of pain in her tongue with impairment of chewing and speaking for 2 months. Clinically, she presented with a depression covered by a pink-colored smooth mucosa, also surrounded by whitish prominent borders. The lesion was firm measuring 7 mm. Incisional biopsy was performed. Histologic examination revealed a noncapsulated proliferation of spindle cells with pale, eosinophilic, and vacuolated cytoplasm containing elongated cigar-shaped nuclei, which were organized in sweeping fascicles intermingled with muscle tissue, blood vessels, and inflammatory infiltrate. No evidence of cellular atypia was found. Tumor cells were strongly marked with muscle-specific actin antibody, but negative for S-100 protein. The final diagnosis was leiomyoma. After 3 months of complete excision, no pain or signs of recurrence were noted.

Integrated Epigenome, Exome, and Transcriptome Analyses Reveal Molecular Subtypes and Homeotic Transformation in Uterine Fibroids

SUMMARYUterine fibroids are benign myometrial smooth muscle tumors of unknown etiology that, when symptomatic, are the most common indication for hysterectomy in the United States. Unsupervised clustering of results from DNA methylation analyses segregates normal myometrium from fibroids and further segregates the fibroids into subtypes characterized by MED12 mutation or activation of either HMGA2 or HMGA1 expression. Upregulation of HMGA2 expression does not always appear to be dependent on translocation but is associated with hypomethylation in the HMGA2 gene body. HOXA13 expression is upregulated in fibroids and correlates with expression of typical uterine fibroid genes. Significant overlap of differentially expressed genes is observed between cervical stroma and uterine fibroids compared with normal myometrium. These analyses show a possible role of DNA methylation in fibroid biology and suggest that homeotic transformation of myometrial cells to a more cervical stroma phenotype could be an important mechanism for etiology of the disease.

Mass lesions of the myometrium: interpretation and management of unexpected pathology.

Uterine leiomyomas are the most common benign uterine smooth muscle tumors. On the basis of imaging, these masses are often presumed to be benign conventional leiomyomas and surgical excision is a common treatment choice. After myomectomy or hysterectomy for presumed leiomyomas, the surgical pathology report may reveal an unexpected diagnosis of another type of mesenchymal tumor. These can range from a variant of benign smooth muscle tumors to smooth muscle tumors of uncertain malignant potential to malignant sarcomas. This review describes these variant pathologies and reviews data on recurrence risk and postoperative management. The majority of benign smooth muscle tumors will be classified as leiomyomas. Cellular, bizarre nuclei, mitotically active, epitheliod, myxoid, and dissecting are all terms that describe pathologic variants of benign leiomyomas. Smooth muscle tumors of uncertain malignant potential contain both benign and malignant features and should be referred to Gynecologic Oncology for follow-up. Leiomyosarcomas and low-grade endometrial stromal sarcomas may present preoperatively as benign tumors but are malignant with a high risk of recurrence and should be referred to Gynecologic Oncology. We advocate for the continued benefits of minimally invasive procedures in appropriately selected patients. Despite these measures, unexpected pathologic diagnoses can occur and should be managed appropriately.

Diffuse Leiomyomatosis: Complete Myomectomy for Innumerable Small Nodules to Achieve Fertility Sparing and Childbearing.

Diffuse leiomyomatosis is a rare condition among benign smooth muscle neoplasms of the uterus, being defined as innumerable small myomatous nodules that mainly occur in the submucosal area. Young women with this disease suffer from menorrhagia, pains, and infertility. It is essential to perform extensive myomectomy after opening the endometrial cavity by a deep, median, longitudinal incision of the uterine corpus, followed by careful suture and reconstruction of the uterus for fertility spearing and childbearing in young women with this disease. So far, there have been no experiences of the uterine rupture during pregnancy even after such myomectomy, but Caesarean section is recommended for safe delivery.

Progesterone receptor antagonist provides palliative effects for uterine leiomyoma through a Bcl-2/Beclin1-dependent mechanism.

Uterine leiomyoma is the most common benign smooth muscle tumor of uterus in women of reproductive age, with a high lifetime incidence. Nowadays, the exploration on the pharmacotherapies, such as progesterone receptor antagonist (PRA) requires more attention. Hence, the current study aimed to examine whether mifepristone, a PRA, influences the autophagy and apoptosis of uterine leiomyoma cells. Primary uterine leiomyoma cells were collected from 36 patients diagnosed with uterine leiomyoma to establish PR-M-positive (PR-M[+]) cells. The lentiviral vector overexpressing or silencing PR-M was subsequently delivered into one part of PR-M(+) cells in order to evaluate the role of PR-M in PR-M(+) cells. The results obtained revealed that cell viability was increased, while cell autophagy and apoptosis were diminished in the PR-M(+) cells treated with overexpressed PR-M, whereby the Bcl-2 level was elevated and the level of Beclin1 was reduced. An opposite trends were identified following treatment with knockdown of PR-M. Mifepristone at different concentrations (low, moderate, or high) was then applied to treat another part of the PR-M(+) cells. Mifepristone was identified to promote cell autophagy and apoptosis, decrease Bcl-2 level and increase Beclin1 level, accompanied by weakened interaction between Bcl-2 and Beclin1. Moreover, these effects of mifepristone on PR-M(+) cells were enhanced with increasing of the concentration. Taken together, the present study present evidence indicates the ability of PRA to regulate the Bcl-2/Beclin1 axis, ultimately promoting the autophagy and apoptosis of uterine leiomyoma cells, highlighting that PRA serves as a promising therapeutic target for the treatment of uterine leiomyoma.

Advanced 3D Imaging of Uterine Leiomyoma\u2019s Morphology by Propagation-based Phase-Contrast Microtomography

Uterine leiomyoma is the most common benign smooth muscle tumor in women pelvis, originating from the myometrium. It is caused by a disorder of fibrosis, with a large production and disruption of extracellular matrix (ECM). Medical treatments are still very limited and no preventative therapies have been developed. We supposed that synchrotron-based phase-contrast microtomography (PhC-microCT) may be an appropriate tool to assess the 3D morphology of uterine leiomyoma, without the use of any contrast agent. We used this technique to perform the imaging and the quantitative morphometric analysis of healthy myometrium and pathologic leiomyomas. The quantitative morphometric analysis of collagen bundles was coupled to the Roschger approach. This method, previously only used to evaluate mineralized bone density distribution, was applied here to study the fibrosis mass density distribution in healthy and pathologic biopsies from two patients. This protocol was shown to be powerful in studying uterine leiomyomas, detecting also small signs of the ECM alteration. This is of paramount importance not only for the follow-up of the present study, i.e. the investigation of different compounds and their possible therapeutic benefits, but also because it offers new methodologic possibilities for future studies of the ECM in soft tissues of different body districts.

The Expression of MBD6 Is Associated with Tumor Size in Uterine Leiomyomas.

Background: Uterine leiomyoma (UL) is the most common benign smooth muscle tumor of the uterus in reproductive women. Prior studies indicated that methyl-CpG-binding domain proteins (MBDs) may be involved in the pathogenesis of UL. Materials and Methods: In this study, UL tissues and paired adjacent myometrium were collected from a total of 51 patients. The expression of MBD mRNAs and their cognate proteins were analyzed via quantitative polymerase chain reaction assays and western blotting, respectively. The relationships between the MBD expression levels and the patients' clinicopathologic variables were assessed using Student's t test, nonparametric tests, or Pearson χ2 methods. Results: Our results show that both the mRNA and protein levels of MBD2 were significantly decreased in ULs compared to the adjacent myometrium. In addition, MBD6 protein expression was also decreased significantly in UL samples when compared to the adjacent myometrium. There was, however, no significant difference on the mRNA expression of MBD6 between these two groups. Neither the mRNA nor the protein levels of the other MBD members (MBD1, MBD3, MBD4, MBD5, and MeCP2) showed any significant differences between ULs and the adjacent myometria. The decreased expression of the MBD6 protein was correlated with the tumor size of ULs. Conclusions: These results suggest that the dysregulated expression of MBD2 and MBD6 in ULs may play a role in their development; however, a larger sample size together with cellular functional assays should be carried out to further elucidate the precise role of MBD6 in ULs.

Benign metastasising leiomyoma of lung – two interesting cases

A leiomyoma, also known as a fibroid, is a benign smooth muscle tumour that very rarely becomes malignant (0.1%). They can occur in any organ, but the most common forms occur in the uterus, small bowel and the oesophagus. Benign metastasising leiomyoma (BML) is a rare condition that occurs in all

The Use of Smoothelin and Other Antibodies in the Diagnosis of Uterine and Soft Tissue Smooth Muscle Tumors.

Smoothelin is a cytoplasmic protein expressed in differentiated smooth muscle cells. Immunohistochemical evaluation of smoothelin has previously been reported in gastrointestinal (GI) smooth muscle tumors, but has yet to be studied in smooth muscle tumors of uterine and other soft tissue origin. DOG1 expression is reported to be specific for GI stromal tumors; however, variable expression has been reported in leiomyosarcomas (LMS) depending on site of origin. Overexpression of p16 is common in LMS of uterine and other sites of origin, but has not been correlated with tumor grade. This study explores the differential expression of these markers, as well as caldesmon, in LMS cases to assess diagnostic utility. Using tissue microarrays and cases from Tulane Medical Center and Medical College of Wisconsin, expression of smoothelin, DOG1, caldesmon, and p16 was evaluated by immunohistochemistry in 87 cases of LMS. The cases were subdivided by location of origin into uterine (N=31) and nonuterine (N=56) with 10 of the nonuterine of GI origin, as well as by grade into low grade (N=27) and intermediate and high grade (N=60). Differential expression among different grades and locations was evaluated. The same markers were evaluated in atypical leiomyoma cases (N=4) and 1 smooth muscle tumor of uncertain malignant potential case (N=1). Smoothelin expression was also assessed in 20 benign uterine leiomyomas. Weak DOG1 expression is rare but possible in extrauterine LMS. Expression of p16 is common in both uterine and extrauterine LMS, and more frequent in higher grades. Expression of smoothelin in this study differed depending on tumor type, grade, and site of origin. All leiomyomas and most atypical leiomyomas showed cytoplasmic positivity for smoothelin, whereas only 5% of LMS had cytoplasmic expression. The study suggests smoothelin may be downregulated in the cytoplasm of malignant smooth muscle tumor cells and may serve as a supportive aid in the distinction of LMS from benign smooth muscle tumors in cases where it is difficult by morphology alone.

Uterine Leiomyoma with Lung Metastases Stump Tumour

This rare case has apparently been recognized for many years at different publication. It has specific features of a benign smooth muscle tumour, (leiomyoma), but with the capacity to produce distant metastasis whilst maintaining the same histology.

Nipple leiomyoma: A rare neoplasm with a broad spectrum of histologic appearances

Cutaneous leiomyomas are rare benign smooth-muscle tumors. These lesions are distinguished based on their cell of origin and are subclassified as pilar leiomyoma, angioleiomyoma, and genital-type leiomyoma. Nipple leiomyoma is the least common genital-type leiomyoma, arising from the dartoic muscle cell of the nipple. Histologic examination of the lesion is necessary for definitive diagnosis, and these uncommon tumors can pose a diagnostic challenge. We describe herein a series of six nipple leiomyomas with a spectrum of histologic appearances.

39. Uterine intravenous leiomyomatosis with intracardiac extension: Report of two cases

Background: Intravenous leiomyomatosis (IVL) is a histomorphologically benign smooth muscle neoplasm characterised by spindle-cell proliferation primarily located within the uterine and pelvic venous system, inferior vena cava, and in rare instances, extending to the heart.

Right Elbow Angioleiomyoma: A Case Report & Review of the Literature

Angioleiomyoma are typically benign vascular smooth muscle tumors. These tumors are rarely seen in males as well as the upper extremities. A 49-year-old patient presented with a painful, fluctuant right elbow mass after a 5-6-year latency. In this case, aspiration as well as corticosteroid injection did not diminish mass size or pain caused by it. After exhausting conservative management, the patient opted for surgical excision, debridement, and histopathological analysis for diagnosis and showed the hallmark variable veins within muscular walls. Current standard of care consists of surgical resection and subsequent postoperative observation for local recurrence. Due to its rarity in location and non-specific findings, diagnosis is often unclear. In the context of existing literature, the optimal treatment for these patients should be determined on a case-by-case basis.

Detection of Circulating Tumor DNA in Patients With Leiomyosarcoma With Progressive Disease.

Leiomyosarcoma (LMS) is a soft tissue sarcoma characterized by multiple copy number alterations (CNAs) and without common recurrent single nucleotide variants. We evaluated the feasibility of detecting circulating tumor DNA (ctDNA) with next-generation sequencing in a cohort of patients with LMS whose tumor burden ranged from no evidence of disease to metastatic progressive disease. Cell-free DNA in plasma samples and paired genomic DNA from resected tumors were evaluated from patients with LMS by ultra-low passage whole genome sequencing (ULP-WGS). Sequencing reads were aligned to the human genome and CNAs identified in cell-free DNA and tumor DNA by ichorCNA software to determine the presence of ctDNA. Clinical data were reviewed to assess disease burden and clinicopathologic features. We identified LMS ctDNA in eleven of sixteen patients (69%) with disease progression and total tumor burden over 5 cm. Sixteen patients with stable disease or low disease burden at the time of blood draw were found to have no detectable ctDNA. Higher ctDNA fraction of total cell-free DNA was associated with increasing tumor size and disease progression. Conserved CNAs were found between primary tumors and ctDNA in each case, and recurrent CNAs were found across LMS samples. ctDNA levels declined following resection of progressive disease in one case and became detectable upon disease relapse in another individual patient. These results suggest that ctDNA, assayed by a widely available sequencing approach, may be useful as a biomarker for a subset of uterine and extrauterine LMS. Higher levels of ctDNA correlate with tumor size and disease progression. Liquid biopsies may assist in guiding treatment decisions, monitoring response to systemic therapy, surveying for disease recurrence and differentiating benign and malignant smooth muscle tumors.

Parasitic leiomyoma with myxoid degeneration mimicking malignancy: A case report and review of literature

Parasitic leiomyoma is a rare, benign smooth muscle tumor occurring in an extrauterine location. Their unusual growth pattern may mimic malignancy and, hence, could pose diagnostic and management challenges. Myxoid degeneration is further rarer finding in leiomyoma. There are few published cases of parasitic leiomyoma in our setting, hence, this report. A 52-year-old female presented with 4-year history of painless, progressive abdominal swelling with associated anorexia, weight loss, and body weakness. Abdominal examination revealed non-tender, nodular mass of 24 weeks size. Ultrasound scan showed a large well-defined heterogeneously hyperechoic right pelvic tumor crossing the midline. She had exploratory laparotomy; however, the histology confirmed parasitic leiomyoma with myxoid degeneration. Parasitic leiomyoma is an uncommon extrauterine benign tumor that mimics abdominopelvic malignancies. Meticulous clinical evaluation with radiologic and pathologic findings is the key to the otherwise challenging diagnosis.

A case report on an unusual degeneration of uterine leiomyoma: Myxoid degeneration

Background: Leiomyomas are benign smooth muscle neoplasm that typically occurs from the myometrium. Most of the women with uterine leiomyoma remain asymptomatic. Various degeneration including hyaline, cystic, myxoid and red degeneration and dystrophic calcification occur in leiomyoma, among them myxoid degeneration occurs rarely. Here is a case report of 40 years with one living child and two abortions who came with complaints of feeling of heaviness and pain at lower abdomen for six months, palpable lower abdominal mass for four months and difficulty in passing urine since 15 days. Multiple fibroids with cystic degeneration were suspected in Computed Tomography scan report. The patient underwent Total Abdominal Hysterectomy with Bilateral Salphingectomy. On cut section there was a cystic area on the body of uterus containing 1. 1 liter of straw coloured fluid. Final histopathological findings concluded multiple leiomyoma with myxoid degeneration.

Intravenous Leiomyomatosis of Gonadal Vein: A Case Report

Intravenous leiomyomatosis (IVL) is defined as a rare benign smooth muscle tumor, which can grow within systemic veins usually iliac veins into inferior vena cava and the right side of the heart; involvement of the gonadal veins is less commonly reported. We present a case with IVL and provide a review of the clinical presentation, pathology and post-operative issues. Operative management aims to completely resect all tumors in the safest manner for the patient. J Med Cases. 2018;9(11):360-362 doi: https://doi.org/10.14740/jmc3174