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PubMed1997

Leiomyosarcoma of the tibia. Report of a case.

A 48-year-old man with an unremarkable medical history was admitted for a painful swelling over the anteromedial aspect of his right leg. Radiographs disclosed heterogeneity of the proximal tibia, with increased uptake on the bone scan. Computed tomography findings consisted of heterogeneity of the proximal tibial metaphysis and diaphysis with subtle cortical osteolysis, periosteal appositions and soft tissue involvement. Magnetic resonance images showed low signal from the metaphysis, diaphysis and soft tissues on T1 sections that enhanced after gadolinium and converted to high signal on T2 images. Lung metastases were also found. Histologic features were consistent with leiomyosarcoma, which was considered to have originated in the tibia since no other primary localization was found. Combination chemotherapy was successful in eliminating the clinical manifestations and clearing the lung metastases. Six months later, the same chemotherapy regimen failed to improve a local and pulmonary recurrence and the patient died a few months later. Primary leiomyosarcoma of bone is a rare tumor, of which one of the most characteristic locations is the proximal third of the tibia. Magnetic resonance imaging with both T1- and T2-weighted sequences is essential to evaluate intramedullary and soft tissue tumor spread. To our knowledge, there are no characteristic signal patterns allowing to differentiate leiomyosarcoma from other primary malignancies of bone. Immunohistochemical and electron microscope studies are useful diagnostic tools.

Basement Membrane↗

PubMed1976

Leiomyosarcomas of the small intestine induced in dogs by N-methul-N'-nitro-N-nitrosoguanidine.

Leiomyosarcomas of the small intestine were found in dogs during experimental induction of gastric carcinoma by oral administration of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG). Leiomyosarcomas were found most frequenly in the duodenum and jejunum, and occasionally in the stomach but never in the ileum, colon, or rectum. The leiomyosarcomas developed in all the dogs given 50 mug/ml of MNNG in deionized water to drink but not in dogs fed on porridge food made from standard pellet diet mashed with MNNG at the same concentration in tap water. Intestinal sarcomas developed in 3 months to 5 years after the end of MNNG administration, and frequently metastasized to the liver and/or the peritoneum.

Administration, Oral↗

PubMed1998

Metastatic leiomyosarcoma of the thyroid: a case report.

Metastatic malignant tumors of the thyroid are rarely encountered clinically. Most arise from primary sites in the lung, breast, kidney or gastrointestinal tract. Their clinical presentation may mimic a primary thyroid tumor and include signs and symptoms such as enlargement of the neck, hoarseness and dysphagia. Without a history of carcinoma in other organs, management as for primary thyroid tumor is often undertaken and misdiagnosis is common. This report concerns a 63-year-old female patient with a rapidly progressive enlargement of the neck. She had had a primary leiomyosarcoma lesion in her left leg that had been well controlled after wide excision. Bilateral pulmonary metastases were noted two years later without local recurrence. She receive wedge lung resections several times. To relieve progressive shortness of breath, debulking surgery of the thyroid was performed and metastatic leiomyosarcoma was proved. The related clinical data of this rare metastatic leiomyosarcoma of the thyroid is presented and the literature is reviewed.

Female↗

PubMed1998

Reduced expression of calponin h1 in leiomyosarcoma of the uterus.

To determine the genetic differences between various smooth muscle tumors of the uterus, the expression of calponin h1 (cytoskeletal protein) was examined in normal myometrium and in smooth muscle tumors of the uterus (leiomyosarcoma, smooth muscle tumors of uncertain malignant potential, cellular leiomyoma, bizarre leiomyoma, and ordinary leiomyoma) using immunohistochemistry and Western blotting. Analysis of calponin h1 transcripts using the reverse-transcription-PCR was also performed. Immunohistochemically, calponin h1 was expressed in normal myometrium and in all leiomyomas; however, its expression was markedly weaker in leiomyosarcoma. The results of both Western blotting and the analysis of calponin h1 transcripts were compatible with the immunohistochemical results. It is suggested that reduced expression of calponin h1 is associated with leiomyosarcoma of the uterus, and that calponin h1 expression may serve as a valuable molecular maker in the differential diagnosis of smooth muscle tumors of the uterus.

Adult↗

PubMed1998

[Uterine leiomyosarcoma with subsequent pregnancy].

Leiomyosarcoma are malignant tumors showing smooth muscle differentiation, they are rare, representing only about 25 percent of all uterine sarcomas and mixed malignant tumors and slightly more than 1 percent of all corporeal malignant tumors. Usually they arise in postmenopausal women and are not known to be related to the known risk factors for endometrial carcinoma (nulliparity, obesity, diabetes mellitus, hypertension, etc.) or carcinosarcoma (prior radiation therapy). They may occur in uteri that also bear typical benign leiomyomas, but leiomyosarcoma rarely can be proven to have arisen in or from benign leiomyomas. We report on two premenopausal women with leiomyosarcoma--out of totally 31 cases in our clinic from 1975-1995 who got pregnant after surgical treatment preserving the uterus. The patients are alive without evidence of disease 3 and 6 years after surgical resection.

Abortion, Incomplete↗

PubMed1998

[Leiomyosarcoma of the inferior vena cava].

BACKGROUND: The inferior vena cava is an uncommon location for leiomyosarcoma, a malignant tumor which develops from the smooth muscle tissue of the media. CASE REPORT: A 76-year-old woman was hospitalized for swelling of the lower limbs. Ultrasonography, computed tomography of the abdomen and magnetic resonance imaging showed tumoral invasion of the inferior vena cava extending to the atrium. Histology examination of a tumoral fragment obtained by transjugular catheterism affirmed the diagnosis of leiomyosarcoma. DISCUSSION: Prognosis of leiomyosarcoma of the inferior vena cava is very poor. No medical or surgical treatment has given satisfactory results. Two factors would explain the poor prognosis: the tumoral localization and the low degree of tumoral differentiation. Clinical presentation and imaging findings suggest the diagnosis which must be confirmed by pathology examination of a tumoral biopsy specimen.

Aged↗

PubMedDate not supplied

Pancreatic leiomyosarcoma in a middle-aged lady.

Leiomyosarcoma is an uncommon malignant tumour of the pancreas. Many retroperitoneal leiomyosarcomas grow silently and are extremely large when diagnosed. We report a 45 year old lady who presented with abdominal lump and haemoptysis. Ultrasound guided biopsy of the mass revealed a pancreatic leiomyosarcoma. The patient had lung metastasis and received chemotherapy. She is alive with disease at last followup.

Diagnosis, Differential↗

PubMed1998

Recurrent left-sided heart leiomyosarcoma: should heart transplantation be legitimate?

Leiomyosarcoma of the heart is an uncommon primary malignant tumor with poor postoperative survival that may be measured in months. A leiomyosarcoma of the left atrium was diagnosed in a 47-year-old man. Initial admission was for acute pulmonary edema requiring emergency surgery. The tumor involved the left atrial cavity, and a radical resection was performed. Six months later an isolated myxomatous recurrence was detected. Heart transplantation was then performed. The patient is in good health 20 months after operation with no evidence of residual disease or recurrence. The literature has been reviewed. Surgical resection is not an adequate treatment for leiomyosarcoma of the left atrium and early heart transplantation probably offers the only hope for these patients.

Heart Atria↗

PubMed1998

Leiomyosarcomas of the female genital tract: a clinical and histopathological study.

INTRODUCTION: Leiomyosarcomas are malignant tumours showing smooth muscle differentiation. They represent approximately 25% of all uterine sarcomas and slightly over 1% of all uterine malignancies. The purpose of the present retrospective review is to relate clinical and pathological findings of leiomyosarcomas of the female genital tract to prognosis. MATERIAL AND METHODS: During 1972-1992 eleven patients had diagnosed uterine leiomyosarcomas treated at the Department of Gynecology of the University of Saarland. The hospital records of all patients were reviewed and complete primary treatment had been performed at this center. RESULTS: The mean age was 46.92 years (SD: +/-13.85). Atypical uterine bleeding and pelvic discomfort were the most common presenting complaints (72.7%). The mean follow-up time was 59.60 months (20-96 months). Overall 2-year survival was 70% and overall 5-year survival 30%. The overall survival of patients in FIGO-stage I was 57.14%, in FIGO-stage II 100%, in FIGO-stage III 0% and in FIGO-stage IV 0%. CONCLUSION: The primary therapy should consist of an operation as radical as possible. Treatment with organ preserving seems to be reasonable if the patient desires children. Also, chemotherapy might provide a hopeful sign in the improvement of survival rates.

Adult↗

PubMed1998

Neuron-specific enolase-producing epithelioid leiomyosarcoma with gross vascular invasion and intracardiac involvement.

We present an unusual case of epithelioid leiomyosarcoma in the right shoulder. A 10-cm tumor eroding the right scapula occurred in a 59-year-old man and grew into the subclavian vein with extension to the right atrium. An elevated serum level of neuron-specific enolase was also detected. Clinical presentation suggested small cell carcinoma of the lung (Pancoast tumor) with intravenous extension. Eventually, the patient died of respiratory insufficiency. Autopsy revealed a primary tumor in the right shoulder, numerous tumor emboli in the pulmonary arteries, and associated hemorrhagic infarction. Histopathologic features revealed an epithelioid leiomyosarcoma. Furthermore, immunohistochemical and immunoblotting analyses of the tumor demonstrated positive reactions for neuron-specific enolase. We interpreted this peculiar case to be a neuron-specific enolase-producing epithelioid leiomyosarcoma of the soft tissue associated with gross vascular invasion.

Angiography↗

PubMed1976

[Cytology and histology of vaginal leiomyosarcoma: a rare tumor (author's transl)].

Leiomyosarcomas as primary tumors are usually found in the corpus uteri or the cervix, they are extremely rare in the vagina. Case report of a 45 yr old woman with primary Leiomyosarcoma of the vagina. The cytological diagnosis was difficult, as a differentiation between Leiomyosarcoma, Melanoma and mesodermal mixed-tumor by means of cytology is not univocal. The histological diagnosis is certain. The tumor is demonstrated in its many histological and cytological aspects. The reaction to radiation is poor. Prognosis depends upon time of diagnosis and treatment and is usually unfavorable.

Diagnosis, Differential↗

PubMed2006

The mutation in the ATP-binding region of JAK1, identified in human uterine leiomyosarcomas, results in defective interferon-gamma inducibility of TAP1 and LMP2.

The presentation of human leukocyte antigens (HLA) class I requires the coordinated expression of numerous components involved in antigen presentation. Tumor cells may alter the antigen presentation by HLA class I, allowing them to evade antitumor immunity. In many cases, the lack of antigen presentation can be attributed to the downregulation of genes needed for antigen processing, such as the transporters associated with antigen processing (TAP) 1, and the proteasomal component, low molecular weight proteins (LMP) 2. The TAP1 and LMP2 genes are transcribed from a shared bidirectional promoter containing an interferon (IFN)-gamma-response factor element; thus, the IFN-gamma-signal strongly induces both TAP1 and LMP2 expression. Low molecular weight proteins2-deficient mice exhibited the development of uterine leiomyosarcomas. Here, the differential responsiveness to IFN-gamma of the SKN human uterine leiomyosarcomas cell line was investigated. We now identify the G871E mutation in the ATP-binding region of Janus kinases 1, suggesting that the loss of TAP1 and LMP2 induction is a defect in the earliest steps of the IFN-gamma-signal pathway, resulting in the inability of SKN cells to upregulate the antigen-processing pathway. Understanding the mechanisms by which these tumors circumvent cytokine signalling, thereby evading antitumor-specific immunity, would greatly aid the efficacy of immunotherapy for treating uterine leiomyosarcomas.

ATP Binding Cassette Transporter, Subfamily B, Mem↗

PubMed2000

Primary leiomyosarcoma of the vagina. A case report and literature review.

Primary vaginal leiomyosarcoma is a rare tumor. We report a unique case of a 27-year-old woman with stage I, high-grade primary leiomyosarcoma of the vagina treated with surgical resection and adjuvant radiation therapy. She returned within 6 months with an abdominal-pelvic recurrence and lung metastases. The patient died of disease 9 months after diagnosis. A comprehensive review of primary vaginal leiomyosarcoma was performed and factors affecting survival were analyzed. A Medline search of the English-language literature revealed 66 previously reported cases. Forty-eight of these had follow-up data. Survival probabilities were calculated using the Kaplan-Meier method, and the effects of age, stage, grade, tumor location, and treatment modality were analyzed. Stage III and IV data were combined. The overall 5-year survival rate was 43%. Patients more than 50 years of age had a 5-year survival rate of 26% compared with 51% for those less than 40 years. Five-year survival for stage I and II tumors was 55% and 44%, respectively. Patients with stage III/IV disease had 25% survival at 18 months. No patient treated primarily with chemotherapy or radiation therapy survived beyond 36 months. In contrast, patients treated primarily with surgery had a 5-year survival rate of 57%. Only stage remained an independent predictor of survival on Cox regression analysis. We continue to recommend surgical resection as primary treatment. Exenteration may be an option for select patients, but ultimately management should continue on a case-by-case basis.

Journal Article↗

PubMed2006

Leiomyosarcoma of the inferior vena cava: clinical experience with four cases.

BACKGROUND: Leiomyosarcoma of the inferior vena cava is a rare tumor that presents in an insidious manner with non-specific symptoms. Given its rarity, there are no consensus guidelines to its management. The aim of this study was to report the clinical experience in the management of patients presenting to our institution during a 12 year period. PATIENTS AND METHODS: Four patients with leiomyosarcomas of the inferior vena cava were managed at our institution during the period reviewed. Patient details were identified through a search of the pathology department computerized database, and case notes were retrospectively reviewed to obtain details of presentation and management. RESULTS: There were 3 females and 1 male with a mean age of 59 years. All tumors were identified within 2 months of first symptoms. Three of the 4 had localized tumors whilst 1 patient had lung metastases at presentation. The three patients with resectable tumors underwent radical surgical excision of the tumor, and two patients had postoperative radiotherapy. One patient died of recurrence at 7 months, and another at 30 months. The third patient is currently well and disease free at 16 months. The fourth patient with metastatic disease was treated with chemotherapy alone and survived 36 months. CONCLUSION: Leiomyosarcoma of the inferior vena cava is an uncommon tumor that presents with non-specific symptoms. At the time of presentation, tumors are usually large and resection is challenging but probably offers the best opportunity for long-term survival.

Journal Article↗

PubMed2025

Methylation Signatures Identify Two Distinct Clusters of Uterine Leiomyosarcoma With Unique Histologic and Clinical Behaviors.

Uterine leiomyosarcoma (uLMS) is a rare and deadly gynecologic malignancy. uLMS is histologically heterogeneous and presents with a wide spectrum of tumor differentiation, with a broad range of genomic DNA instability, which can make the diagnosis and prognosis of uLMS challenging. Methylation has emerged as a useful molecular tool in tumor classification and diagnosis in certain neoplasms. We initiated this study to investigate the role of global methylation in the differential diagnosis of uLMS from its mimics in correlation with pathologic characteristics and clinical outcomes. In this study, we performed array-based global methylation profiling analysis in a total of 71 uLMS and compared the methylation signatures of uLMS with several other uterine mesenchymal tumors and soft tissue leiomyosarcoma. We found that uLMS demonstrated distinct methylation patterns differing from all other tumor types. Notably, methylation profiling defines 2 distinct subgroups of uLMS with differing copy number alterations, resulting in unique histologic and clinical behaviors, further emphasized by differences in methylation pathway analysis. This study is the first to report methylation profiling as a useful diagnostic tool in differentiating uLMS from mimics and defines 2 subtypes of uLMS based on methylation signatures.

Humans↗

PubMed1982

Left atrial leiomyosarcoma: manifestation as unexplained pulmonary vascular disease.

Primary, left-sided cardiac tumors are a rare cause of unexplained pulmonary hypertension. We describe herein two patients with leiomyosarcoma of the left atrium, who were initially seen with symptoms suggestive of primary pulmonary hypertension, venoocclusive disease, or multiple, small thromboemboli. Postmortem examination showed extension of the leiomyosarcoma into the pulmonary veins, which resulted in pulmonary venous hypertension. Although unusual, the occurrence of left-sided cardiac neoplasms should be included in the differential diagnosis of patients who are initially seen with unexplained pulmonary hypertension. An open lung biopsy should be considered and may indicate a venous origin for the hypertension.

Adult↗

PubMed1983

Orbital leiomyosarcoma after radiation therapy for bilateral retinoblastoma.

Leiomyosarcoma rarely occurs in the orbit and is seldom encountered as a postirradiation sarcoma in any anatomic location. Three patients with bilateral retinoblastoma who had received radiation therapy are known to have orbital leiomyosarcoma develop in their third decade of life. The clinical and pathological data pertaining to two of these patients are given and discussed herein.

Adult↗

PubMed1996

Primary leiomyosarcoma of the ureter.

We report the thirteenth case of primary leiomyosarcoma of the ureter, as well as a summary of previous cases. It is the first case reported to be studied by computer tomography and immunohistochemical procedure. Further evaluation included intravenous pyelogram, cystoscopy with retrograde pyelogram, cell block for cytology, and electron microscopy. Leiomyosarcoma is a very rare disease that is difficult to diagnose. It has a very poor 5-year disease-specific survival.

Diagnosis, Differential↗