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.

Unusual cardiac tamponade: Giant primary cardiac myxoid liposarcoma.

Primary cardiac myxoid liposarcoma is an extremely rare disease. We reported a 61-year-old man with a 1-month history of aggressive dyspnea and anorexia due to a giant primary cardiac myxoid liposarcoma. Radical resection, whenever feasible, is considered to be an appropriate surgical strategy for this disease. Heart transplantation may be an alternative therapy for such isolated and unresectable tumor.

Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome.

We present the case of a 15-year-old female with a right perineal mass that was found to be pleomorphic myxoid liposarcoma, a recently recognized, rare subtype of liposarcoma. The patient had a strong family history of malignancy and genetic screening revealed a pathogenic TP53 mutation consistent with Li-Fraumeni syndrome.

[Anterior Mediastinal Myxoid Liposarcoma Detected by Chest Computed Tomogram in the Patient with Pneumothorax].

A 57-year-old woman visited our hospital with left chest pain. Chest computed tomography (CT) scanning showed left pneumothorax with apical bullae and a nodular shadow in the left anterior mediastinum accidentally. However, a week later, we could not detect a mediastinal shadow on chest CT image after healing of left pneumothorax. Video assisted thoracoscopic surgery was scheduled in order to remove bullae and evaluate an anterior mediastinal lesion. The mediastinal lesion was tumorous and resected with around pericardial fat tissue. Pathological diagnosis was a myxoid liposarcoma of 15×10mm in size without infiltration into the surrounding tissue. The postoperative course was uneventful without recurrence 6 months later.

Mediastinal Myxoid Liposarcoma with Intrapericardial Involvement and Large Pericardial Effusion.

Liposarcoma is the name given to a group of soft tissue sarcomas (STSs) with adipocytic differentiation. As a group, liposarcomas are the second most common STSs in adults. In 1951 Kozonis et al published that in the English language only four cases of liposarcomas originating in the mediastinum had been described. Primary mediastinal liposarcoma is an uncommon neoplasm of intrathoracic origin. We present the case of a 47-year-old woman diagnosed with a large mediastinal mass with intrapericardial invasion and massive pericardial effusion; biopsies showed a mediastinal liposarcoma.

Omental liposarcoma presenting as chronic constipation.

Constipation is a common cause of pediatric abdominal pain seen in pediatric emergency departments (EDs). We present the case of an 11-year-old boy with a 4-month history of chronic constipation and abdominal pain who presented to the children's ED. He was found to have a large abdominal mass that was determined to be a myxoid liposarcoma. An extensive review of the medical literature did not reveal any previous cases of this type of tumor presenting to the ED as chronic constipation.

Malignant intestinal obstruction during twin pregnancy: surgical resection of a myxoid liposarcoma without induction of labour.

Myxoid liposarcoma (MLS) represents one of the three main morphological subgroups of liposarcomas. Extrapulmonary recurrence to the retroperitoneum and abdomen is common in MLS. A pregnant patient was referred to our hospital due to abdominal pain and obstipation. In the past, she had received a multimodal treatment of an MLS of the left dorsal thigh. Now, MRI revealed a 14.6×10.1×12.4 cm-sized tumour adjacent to the uterus with a known twin pregnancy (26th week). We performed surgery under tocolytic therapy. The tumour has been completely removed. The histopathological examination revealed a nodular manifestation of a moderately differentiated MLS arising from the mesentery. Eleven weeks later, our patient delivered healthy twins. This is the first report of surgical resection of MLS during a twin pregnancy. With a multidisciplinary approach and a concerted treatment by surgeons and obstetricians, surgical resection resolved malignant intestinal obstruction and enabled an uncomplicated continuation of pregnancy.

[Giant cardiac metastasis of myxoid liposarcoma causing cardiac tamponade; report of a case].

We report a very rare case of cardiac metastasis of myxoid liposarcoma. A 55-year-old man presented with dyspnea. Two and a half years ago, he underwent resection of myxoid liposarcoma in the left thigh. Magnetic resonance imaging (MRI) revealed a giant tumor occupying the pericardiac cavity and pressing the heart and consequently causing cardiac tamponade. The patient underwent surgery through a left thoracotomy approach. The pericardiac cavity was filled with a giant tumor with a stalk from the right ventricle and 2 small nodules on the main pulmonary artery. He was relieved from the symptom: however, he had a recurrence of the tumor at the same site 5 months after the operation. He underwent surgery for the removal of the second tumor; however, he died 49 days after the operation. Although cardiac metastasis is a very rare condition, its awareness is essential for careful long-term follow-up for the early detection of a metastatic cardiac liposarcoma after the resection of the primary tumor.

Primary omental liposarcoma presenting as an incarcerated inguinal hernia.

Herein, we present a case of primary liposarcoma of the omentum found in an incarcerated inguinal hernia in a 52-year-old male patient. The patient was admitted to our hospital in June 2000 with sudden onset of left-sided abdominal and groin pain of 12 hours' duration with a large, irreducible inguinal hernia. This was not associated with nausea or vomiting. An emergency operation was performed, and in the hernia sac the tumor, arising from the greater omentum, was found. After we opened the transversal fascia and peritoneum, the tumor was resected with a block of the greater omentum, and hernioplasty was performed using Shouldice's method. The histopathological diagnosis of resected tumor showed myxoid type liposarcoma. In the English medical literature, omental liposarcoma has never before been reported as the content of a hernia sac.

Pericardial metastasis of myxoid liposarcoma causing cardiac tamponade.

Although myxoid liposarcoma often metastasizes to various organs, cardiac metastasis is rare. We present herein a rare case with pericardial metastasis of myxoid liposarcoma, which expanded the pericardial sac extraordinarily and required an emergency operation because of acute cardiac tamponade. We undertook a review of the English literature regarding liposarcoma.

Neurological deficit from metastatic low grade liposarcoma.

Myxoid liposarcoma is a malignant soft tissue tumor with a relatively indolent natural history. It commonly occurs in the extremities with extrapulmonary metastatic potential. Round cell liposarcoma, recently, is widely agreed to be the aggressive counterpart of the myxoid liposarcoma, mostly arising in adverse, local recurrence, and metastatic lesions. Metastatic liposarcoma with pure myxoid element is unusual. The authors report an extremely rare case of a 47-year-old Thai male patient having a metastatic pure myxoid liposarcoma to the thoracic vertebrae, one year after primary tumor documented on the left thigh. Histology of the primary and metastatic sites shows only myxoid pattern. Round cell feature was not documented. To the best of the authors' knowledge, this is the second case report of metastatic myxoid liposarcoma without round cell morphology.

Myxoid/round cell liposarcoma of the extremities. A clinicopathologic study of 29 cases with particular attention to extent of round cell liposarcoma.

Round cell liposarcoma, a high-grade sarcoma, is a poorly differentiated form of myxoid liposarcoma, which is low grade. It is not known, however, how much of a round cell component within an otherwise typical myxoid liposarcoma results in a neoplasm that behaves as a high-grade sarcoma. Twenty-nine cases of myxoid liposarcoma of the extremities with or without a component of round cell liposarcoma were studied to semiquantitate the amount of round cell component needed to adversely affect prognosis. An estimate of the percent of necrosis, round cell liposarcoma, myxoid liposarcoma, and transitional areas was obtained for each slide on all cases. Transitional areas were defined as those that displayed an increased cellularity compared with typical myxoid liposarcoma, but in which the cells remained spindled, did not have overlapping nuclear borders, and retained an easily discernible plexiform vascular pattern. The amount of necrosis was subtracted from the total material available for evaluation, and a composite estimate of the percent of round cell, myxoid, and transitional areas was obtained. Two tumors were located on the upper extremity, 27 on the lower extremity; tumor size ranged frm 3 to 30 cm (median, 14 cm). All 29 tumors had a myxoid component, with a range from 12 to 100% (median, 73%). The range of transitional component for all 29 tumors was 0 to 88% (median, 11%). Twenty-one tumors had transitional areas (range, 4-88%). The range of round cell component for all 29 tumors was 0 to 58% (median, 0%). Twelve tumors had round cell areas (range, 1-58%). Seventeen patients are either alive without disease, or died from unrelated causes at 24-202 months (median, 96 months). Twelve patients are either alive with metastases or died of disease at 10 to 180 months (median, 53 months). Patients with > 5% round cell component in their initial tumor had a statistically significant higher rate of metastasis or death due to disease than those with < or = 5% round cell liposarcoma (p = 0.05). In addition, patients with myxoid liposarcoma with transitional areas did not fare worse than those with myxoid liposarcoma alone. In conclusion, we found that a round cell component of > 5% portends a higher risk of metastasis or death from disease. Furthermore, transitional areas alone do not appear to alter the prognosis of myxoid liposarcoma. Thus, only those areas that are unequivocally round cell liposarcoma should be designated as high grade.

An unusual case of spinal metastasis from a liposarcoma.

A 58-year-old man presented with spinal cord compression due to a metastatic liposarcoma of the thoracic spine. There was no evidence of vertebral bone involvement radiographically. This rare case is presented and its clinical features and diagnosis are discussed.

Intussusception secondary to metastasis from a low-grade retroperitoneal liposarcoma.

Liposarcomas are the most prevalent soft tissue sarcomas in adults. Low-grade liposarcomas are the most frequent and least aggressive and are noted as having a low risk of metastasis. We present a case of low-grade myxoid liposarcoma that metastasized to the small bowel resulting in intussusception. This case involves a 44-year-old woman with a recurrent retroperitoneal liposarcoma. Approximately 30 months after initial diagnosis, the patient was found to have a solitary metastasis to the small bowel that presented as a jejunal intussusception. Interestingly, there was no indication of a round cell component in either the metastasis or recurrent tumor, although the original tumor did contain a small round cell component. This is the first report in the English literature of liposarcoma metastasizing to the small bowel. We suggest that atypical presentations of liposarcoma metastases should always be considered in the management of patients with a history of liposarcoma.

Myxoid liposarcoma of the anterior mediastinum. Diagnosis by fine needle aspiration biopsy.

The mediastinum is an uncommon primary site of liposarcoma, which constitutes < 1% of tumors at that site. We report a case of myxoid liposarcoma evaluated with fine needle aspiration biopsy in a 66-year-old male who presented with cardiac tamponade, superior vena cava syndrome and radiologic evidence of a large anterior mediastinal mass. Cytologically the neoplastic cells were strikingly dyscohesive, with ovoid or spindle-shaped, hyperchromatic nuclei. The cytoplasm was abundant and often finely vacuolated with lipid. They were associated with a prominent myxoid, intercellular substance and distinct, arborized capillary structures. Survival is influenced by the tumor cell type and differentiation. The overall prognosis seems to be poorer than that of liposarcomas occurring in other areas. To the best of our knowledge, this is the first reported case of primary mediastinal liposarcoma diagnosed by fine needle aspiration biopsy.

[Nocturnal back pain; a misdiagnosed symptom of spinal tumor]. / Nachtelijke (rug)pijn; het miskende weksignaal van een spinale tumor.

Four patients had nocturnal back pain or pain that worsened when lying down. In one of these, a 49-year-old man, the medical history mentioned a malignancy, as a result of which a spinal metastasis was suspected. In the other three patients, a 52-year old woman and two men aged 48 and 60 years, the nocturnal back pain and the back pain worsening when lying down was not recognised as indication of a spinal tumour. As objective neurological symptoms were not established at initial investigation, a long period of discomfort and frustration followed before the spinal tumour was diagnosed eventually. The importance of recognising these early complaints is stressed. Nowadays, MRI is the technique of choice to answer the question whether there is a space occupying process in the spine.

[Myxoid liposarcoma of the anterior mediastinum. A case report and bibliography review]. / Liposarcoma mixoide de mediastino anterior. Reporte de caso y revisión de la bibliografía.

UNLABELLED: Five cases per year. Of those cases 50% are located in the extremities and 40% are located in the trunk and retroperitoneum. Primary mediastinal liposarcomas represent less than 1% of mediastinal tumors. CLINICAL CASE: A 53 year old female, native and resident of Tabasco, with a history of anterior mediastinal tumor was treated with resection at the National Institute of Cancerology about 16 years ago with histopathological diagnosis of pleomorphic liposarcoma. She started her condition with chest pain, cough and hyaline expectoration, managed as pneumonia in her unit. Other symptoms occurred, moderate exertion dyspnea and edema of lower limbs, chest computed tomography prompted for documenting mediastinal tumor measured to be 9 × 9 cm and sent to our unit which is managed with resection.

Antecedentes: la incidencia de sarcomas de tejidos blandos es de 1.8 a 5 casos por año; 50% aparecen en las extremidades, 40% en el tronco y retroperitoneo. Los liposarcomas primarios de mediastino representan menos de 1% de los tumores mediastinales. Caso clínico: paciente femenina de 53 años de edad, originaria y residente de Tabasco, con antecedente de liposarcoma pleomórfico de mediastino anterior (durante su tercer embarazo) 16 años antes de su ingreso actual; fue tratada en el Instituto Nacional de Cancerología con resección y radioterapia. Acudió a su unidad de adscripción por dolor torácico, tos y expectoración hialina, la trataron como neumonía. Después se agregó disnea de medianos esfuerzos, y edema de miembros pélvicos; con la tomografía computada de tórax se diagnosticó un tumor mediastinal delimitado de 9 × 9 cm; la enviaron a nuestra unidad para su resección. Conclusiones: los liposarcomas representan menos de 1% de los tumores del mediastino, y requieren seguimiento a largo plazo por su alta recidiva después de un largo periodo libre de enfermedad.