A case report of uterine leiomyosarcoma: unusual clinical presentation with unilateral hydronephrosis and importance of an appropriate diagnosis.

Uterine leiomyosarcoma is a rare malignant gynecologic tumor that arises from the myometrial or endometrial stromal precursor cells. This tumor has the highest prevalence in the pre- and post-is more frequent between 40 and 60 years old. It has a very unfavorable prognosis: only early-stage tumors have an acceptable prognosis; unfortunately, it is often diagnosed accidentally, typically on an advanced stage, when hematological metastases have already spread. Surgery is the main treatment strategy, while systemic treatment and radiotherapy are not recommended due to the lack of results. Since metastatization is mainly hematological, lymphadenectomy is not recommended. Recent progresses have been achieved in advanced and recurrent disease, often inoperable, thanks to new chemotherapies, target therapies and immunotherapies. We reported the case of a 51-year-old woman evaluated for lumbar pain in the right region compatible with renal colic. The ultrasound evaluation revealed right hydronephrosis and the presence of a paraovarian or intraligamentary mass compatible with fibroma. The abdominal CT confirmed the presence of a mass with heterogeneous vascularization. Therefore, the patient underwent laparoscopic surgery to remove the lesion which resulted to be a leiomyosarcoma G2. During the following week the patient underwent a laparoscopic hysterectomy. The first step for differential diagnosis consists in the evaluation of clinicopathological features, followed by the analysis of preoperative imaging. Pelvic MRI represents the gold standard, while CT is used to detect metastases. The main issue is that imaging shows limited ability in differential diagnosis between benign and malign smooth muscle tumor. The definitive diagnosis is confirmed by histological analysis; this implies the necessity of improved attentions on the surgical procedure, which is often performed by steps with prolongation of the treatment pathway. To distinguish which fibroids presents a major risk to be misdiagnosed, some risk scores were developed (rPRESS in 2014 and pLMS in 2019), though actually they are not applied in clinical practice. Uterine leiomyosarcoma (uLMS) is rare but causes several deaths in perimenopausal women due to lack of effective treatments, although target therapies represent a future hope. Furthermore, clinical practice needs support through the development and improvement of diagnostic risk scores and their integration into guidelines.

Surgical resection of retinoblastoma-associated bladder leiomyosarcoma during pregnancy: a case report.

BACKGROUND: Management of a bladder tumor during pregnancy is an uncommon clinical situation. Leiomyosarcoma of the urinary bladder is a rare histological type of bladder tumor and a rare secondary cancer in survivors of retinoblastoma (RB). However, there has been no report of RB-associated bladder leiomyosarcoma during pregnancy. CASE PRESENTATION: A 37-year-old pregnant woman with a medical history of RB in infancy presented with gross hematuria at the 17th week of gestation. Cystoscopy revealed a 40-mm papillary tumor on the left lateral wall of the urinary bladder. At the 25th week of gestation, she underwent transurethral resection of the bladder tumor, and the pathological diagnosis was bladder leiomyosarcoma with loss of RB1 expression. At the 31st week of gestation, she gave birth by caesarean section. One month after the delivery (to allow for involution of the uterus), she underwent partial cystectomy, and the specimen contained no residual leiomyosarcoma tissue. CONCLUSIONS: We have reported a case of RB-associated bladder leiomyosarcoma that was successfully treated during and after pregnancy.

Leiomyosarcoma Presenting as Rupture With a Type II Endoleak After Thoracic Endovascular Aortic Repair.

Endovascular stent-graft therapy is a commonly performed procedure for aortic lesions worldwide and complications unique to stent grafts, such as postoperative endoleaks, are well known. However, as this treatment modality becomes more popular, physicians should carefully monitor for other unexpected complications, which may not always be related to the graft. This study presents a case of leiomyosarcoma of the aorta that developed during follow-up for a type II endoleak (T2EL) after thoracic endovascular aortic repair. The presence of the T2EL hindered the diagnosis of the sarcoma at an early stage. These findings suggest that an apparent aneurysm that grows suddenly during follow-up after stent grafting should raise the index of suspicion for a neoplasm as well as an endoleak.

Pulmonary vein thrombosis associated with metastatic uterine leiomyosarcoma: a case report.

BACKGROUND: Pulmonary vein thrombosis (PVT) is rarely associated with malignancies. Leiomyosarcoma, a malignant tumor originating from smooth muscles, has never been reported as the etiology of PVT. CASE PRESENTATION: In this case report, we described a 43-year-old Kurdish woman with a known case of leiomyosarcoma who presented with hemoptysis, dyspnea, and pleuritic chest pain. Chest computed tomography (CT) angiography revealed a thrombus in the left infero-posterior pulmonary vein. She was successfully treated with unfractionated heparin administered intravenously followed by orally administered warfarin. At the end of the article, we describe and compare other reports of malignancy-related PVT. CONCLUSIONS: While malignancies are not a common cause of PVT, both primary lung tumors and metastatic cancers could be associated with PVT. Delay in diagnosis may lead to serious complications and even death. Therefore, clinicians should be aware of the possibility of the development of PVT in different malignancies for appropriate diagnosis and treatment.

[Rectal leiomyosarcoma, a rare malignant tumor diagnosed in ulcerative colitis]. / Le léiomyosarcome rectal, une tumeur maligne rare diagnostiquée au cours de la rectocolite ulcéro-hémorragique.

Patients with chronic inflammatory diseases (IBD) of the digestive tract are known to have an increased risk of colorectal cancer. These are usually adenocarcinomas, and the occurrence of malignant mesenchymal tumours, particularly leiomyosarcomas, is exceptional. We report one case in a 40-year-old woman, followed for 9 years for ulcerative colitis. The tumour measured 2cm in length and infiltrated the entire rectal wall as far as the subserosa. It was composed of fusiform cells, with 5 mitoses for 10 fields at ×400 magnification, and expressing actin, desmin and caldesmone under immunohistochemical study. We review the 2 cases of leiomyosarcomas associated with Crohn's disease and 3 cases developed during ulcerative colitis published in the literature.

[A Patient with Small Intestinal Leiomyosarcoma and Intussusception Who Underwent Single Port Surgery].

The patient was a 33-year-old female. She was referred to our hospital from a previous clinic with abdominal pain and vomiting. Contrast-enhanced abdominal CT revealed intussusception, leading to a diagnosis of intussusception with a small intestinal tumor as an advanced part. Intestinal obstruction symptoms were observed, and emergency surgery was performed on the same day. As a technique, single port surgery was selected, and laparoscopic reduction was attempted. However, it was ineffective. The site of intussusception was induced outside the body through a small laparotomy wound, and reduction was performed using Hutchinson's procedure. As an adjacent lymph node was markedly swollen, the mesentery involving this lymph node was dissected in a fan shape, and the tumor was extirpated. The tumor measured 40 mm in long diameter, being a hemicircular, protruding lesion. Histologically, disarray of short spindle tumor cells was observed. Immunostaining showed Kit- and DOG1-negtive reactions and partially α-SMA and desmin-positive reactions, suggesting leiomyosarcoma. With the establishment of an immunostaining-test-based classification, leiomyosarcoma is currently rare. In this study, we report a patient in whom single port surgery for intussusception related to small intestinal leiomyosarcoma was successful.

Glucoregulatory factors in canine hepatocellular carcinoma and leiomyosarcoma with non-islet cell tumour hypoglycaemia.

INTRODUCTION: Hypoglycaemia caused by malignant tumours other than insulinoma is referred to as non-islet cell tumour hypoglycaemia (NICTH), which may be caused by hepatocellular carcinoma (HCC) and leiomyosarcoma (LMS) in veterinary medicine. However, the pathogenetic mechanism of NICTH remains unclear. Therefore, this study aimed to evaluate the gene-expression levels of glucoregulatory factors in canine HCC and LMS accompanied by hypoglycaemia. MATERIALS & METHODS: Four patients (three with HCC and one with LMS) exhibiting hypoglycemia were included in the hypoglycemic (H) group, whereas ten patients not exhibiting hypoglycemia were in the non-hypoglycaemia (NH) group. The preoperative and postoperative blood glucose and serum insulin-like growth factor-2 (IGF-2) levels, as well as the expression of genes involved regulating blood glucose levels were analysed. RESULTS: Compared with the NH group, the H group exhibited significantly decreased blood-glucose levels, which increased to normal values after surgery. Compared with the NH group, the H group exhibited significantly increased gene expression of insulin-like growth factor 1, IGF-2, and insulin-like growth factor binding protein 3 in the tumours. Conversely, expression of genes encoding glucoregulatory factors including insulin, gastric inhibitory polypeptide and glucagon was not observed. Serum IGF-2 levels were significantly higher in the H group compared with that in the control group (healthy dogs) and NH group. In two cases in the H group, serum IGF-2 levels decreased after tumour resection. CONCLUSION: These results suggest that NICTH development in dogs with HCC and LMS is mechanistically associated with IGF-2 overexpression and elevated serum IGF-2 levels.

Primary ovarian leiomyosarcoma in a woman with uterovaginal prolapse.

Primary ovarian leiomyosarcoma is a very uncommon and aggressive neoplasm. We presented a right-sided ovarian leiomyosarcoma in a woman in her late 40s. No case has been described in the literature till now of primary ovarian leiomyosarcoma in a woman with uterovaginal prolapse. A total abdominal hysterectomy with bilateral adnexectomy, metastasectomy, excision of large tumour deposit over small intestine followed by resection with ileo-ileal anastomosis and omentectomy was performed. The diagnosis was made based on morphology along with immunohistochemistry. The patient was given adjuvant chemotherapy during postoperative period. Due to rarity, there is a dearth of information on the clinical behaviour and best treatment options for these tumours. This case report highlighted the importance of clinical awareness and aimed to provide a baseline to guide clinical practice as well as future research.

Primary pulmonary leiomyosarcoma with coexistent pulmonary aspergillosis: a case report.

Coexisting primary pulmonary leiomyosarcoma (PPL) with pulmonary Aspergillosis in immunocompetent patients is a rare occurrence. Here, we presented a 54-year-old woman presented with a dry cough for two months. Bronchoscopy revealed pulmonary aspergillosis. The patient was treated with antifungal therapy for one month without improvement. To evaluate further, a chest computed tomography (CT) scan showed a large heterogeneous enhancing mass in the lower lobe of the left lung with left atrium thrombosis. Computed tomography-guided biopsy was performed, and histopathology demonstrated the diagnosis of PPL. The metastasis workup staging showed multiple metastases in vertebrae, scapula, rib, and liver. The patient was treated with chemotherapy followed by tumor bed radiotherapy. Unfortunately, her general condition worsened, and she passed away with overall survival of fourteen months. In conclusion, clinicians should be alert to underlying malignant disease if airway Aspergillus infection is suspicious in patients without strong risk factors for invasive fungal infection.

Advanced Leiomyosarcoma of the Retroperitoneal Space in a Kidney Transplant Recipient with a History of Peritoneal Dialysis: A Case Report.

BACKGROUND Leiomyosarcoma frequently occurs in patients who are on immunosuppressive therapy. It is the second most common sarcoma in this population and is often associated with Epstein-Barr virus (EBV) infection. We present a case of advanced leiomyosarcoma of the retroperitoneal space in a kidney transplant recipient and discuss additional risk factors for oncogenesis. CASE REPORT A 44-year-old woman with a history of peritoneal dialysis and kidney transplantation was diagnosed with multiple liver lesions. PET-CT scanning showed a metabolically active tumor in the left lumbar region with numerous liver focal lesions. The histological examination of the liver lesion biopsy identified advanced retroperitoneal leiomyosarcoma with a high proliferative index and liver involvement. Unexpectedly, the relation with EBV infection was not proven. The patient was treated with first-line doxorubicin, with the simultaneous reduction of immunosuppression. Owing to disease progression after 6 cycles, the patient received second-line chemotherapy based on gemcitabine and docetaxel, which was terminated owing to unacceptable toxicity, despite an observed response. Third-line trabectedin-based therapy with good tolerance and stabilization of disease after 20 months was being maintained at the time of this report. CONCLUSIONS The increased cancer mortality in solid-organ transplant recipients requires an individualized approach and increased post-transplantation screening according to additional specific cancer risk factors. A further consideration is the hypothetical relevance of long-term peritoneal membrane irritation in peritoneal dialysis patients.

A Large Vascular Leiomyoma Arising from the Superficial Femoral Artery: Case Report and Systematic Review.

OBJECTIVE: Vascular leiomyomas are rare begin tumor comprising mature vascular smooth muscles that originate in the tunica media of the blood vessels. Most of the tumors arise from the veins. Only a dozen cases of artery-arising vascular leiomyoma have been reported, most of which are presented as small nodules in the hand. METHODS: Here we report an interesting case of a large artery-arising vascular leiomyoma and perform a systematic review. RESULTS: A 55-year-old man complained a 6 × 3 cm firm, mobile, tender and pulseless mass in the medial region of his left thigh. The computed tomography showed a well-demarcated fusiform tumor encircling the superficial femoral artery and was enhanced significantly with contrast. The patency of the superficial femoral artery was intact. The magnetic resonance image exhibited slightly hypointense relative to skeletal muscle on T1-weighted images and a heterogeneous appearance on T2-weighted images. We performed the en bloc resection of the tumor and used a vascular graft to revascularize the artery through end-to-end anastomosis. After histopathological assessments, the tumor was diagnosed as an artery-arising vascular leiomyoma. We also performed a systematic review on artery-arising leiomyomas, discovering 21 cases. Most of the artery-arising vascular leiomyomas were small nodules (mean length: 2.4cm) and most of them were superficial solitary mass located in the hand (13 cases, 62%). Excision of the tumor was an effective treatment. The histological subtype of the artery-arising vascular leiomyoma in all cases was solid type. During the follow-up of each patient, there was no recurrence. CONCLUSIONS: Artery-arising vascular leiomyomas are extremely rare. Most of them are painless and locate in the hand. Their pathological subtype is solid type in all patients. Due to their begin nature, excision is a cure with little chance of recurrence.

PLAG1-rearrangment in a uterine leiomyosarcoma with myxoid stroma and heterologous differentiation.

A variety of molecular alterations have been reported in uterine leiomyosarcomas, but most are considered nondiagnostic. There are, however, rare exceptions including PLAG1 rearrangement which has recently been identified in a subset of myxoid leiomyosarcomas. A 41-year-old woman presented with symptoms of a fibroid. She underwent a myomectomy which revealed a high-grade uterine sarcoma with areas of myxoid stroma and heterologous elements. The tumor expressed desmin, smooth muscle actin, H-caldesmon, and estrogen and progesterone receptors. RNA sequencing revealed a novel TRIM13-PLAG1 fusion gene which was subsequently independently confirmed by fluorescence in situ hybridization. On further evaluation the patient was found to have multiple pulmonary metastases and died due to disease progression shortly after diagnosis. This report describes a novel fusion partner of PLAG1 in a uterine leiomyosarcoma with myxoid leiomyosarcoma and heterologous elements, thereby broadening the spectrum of morphologic and genetic findings within this rare group of neoplasms.

A late systemic and brain metastasis from subcutaneous leiomyosarcoma of the right forearm: a case report and review of the literature.

BACKGROUND: Leiomyosarcomas are rare malignant tumors which originate from smooth muscle cells and very seldom give rise to intracerebral metastases. Nearly all cases of intracranial metastases stem from leiomyosarcomas of the uterus. We present a 61-year-old Caucasian man who developed multiple intracranial and extracranial metastases from leiomyosarcoma of the right forearm, diagnosed and treated 9 years before the current presentation. CASE PRESENTATION: The Caucasian patient presented to the emergency department due to a progressive hemiparesis on the left side. Magnetic resonance imaging scans of the neurocranium showed multiple intracerebral masses with perifocal edema. One of these was located in the right parietal lobe, corresponding to the hemiparesis. The patient underwent microsurgical complete resection of the parietal mass and was subsequently subjected to further radiotherapy. Histopathological studies revealed metastasis of the former leiomyosarcoma. CONCLUSIONS: Leiomyosarcomas represent a rare entity of mesenchymal tumors. Intracerebral metastasis of these tumors is even less frequent. This case shows the importance of long-term follow-up in patients with leiomyosarcoma.

Leiomyosarcoma in a cervical myelomeningocele: a rare complication in a neglected case.

BACKGROUND AND IMPORTANCE: Asymptomatic myelomeningoceles are usually more of cosmetic deformities and left without evaluation and untreated, amongst low socio-economic strata. Such midline swellings, if left neglected may become the seat for malignancies, usually of squamous cell origin. CLINICAL PRESENTATION: The authors report a case of an 18-year-old male patient who developed leiomyosarcoma within chronically neglected cervical myelomeningocele. CONCLUSION: A non-healing ulcer of any aetiology is a bed for carcinogenesis. Neglected myelomeningoceles, for any reason, may convert a benign entity to a malignant pathology. To our best knowledge, this is the first case of a leiomyosarcoma arising de novo from myelomeningocele.