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.

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.

[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.

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.

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.

[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.

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.

Mixofibrosarcoma de bajo grado en la mama: una localización inusual / Low-grade myxofibrosarcoma of the breast: an unusual localization

No disponible

Versatilidad clínica del pseudotumor inflamatorio en Urología / Clinical Versatility of the Inflammatory Pseudotumor in Urology

Objetivo: El pseudotumor inflamatorio es una lesión rara, de comportamiento benigno y cierta heterogeneidad histológica que aparece en el tracto genitourinario. Se revisan una serie de pseudotumores inflamatorios urogenitales poniendo especial énfasis en sus características clínico-patológicas e inmunohistoquímicas. Material y métodos: Análisis retrospectivo de la casuística tratada entre enero de 1981 y diciembre de 2010 que identifica los casos de pseudotumor inflamatorio de localización urogenital. Se analizan las variables edad, sexo, clínica, topografía y tratamiento, y las características anatomopatológicas e inmunohistoquímicas de cada caso. Resultados: Se describen un total de 8 casos de pseudotumor inflamatorio de localización urogenital, de los cuales 6 se localizaron en la vejiga, uno en el riñón y uno en el epidídimo. La edad media de los pacientes fue 46,75 (± 19,84) años. Los síntomas de presentación tumoral fueron hematuria macroscópica, monosintomática o acompañada de sintomatología del tracto urinario inferior y masa inguino-escrotal. En cuanto al tratamiento en los casos de localización vesical se realizó resección transuretral± cistectomía; el caso de localización renal se trató mediante pielotomía y exéresis y el de localización epididimaria mediante exéresis simple. El estudio anatomopatológico evidenció pseudotumor inflamatorio en todos los casos, de aspecto mesenquimal y mixoide con células fusiformes de citoplasma eosinófilo, con presencia de frecuentes células inflamatorias. El patrón inmunohistoquímico más común mostró positividad para actina músculo-específica (HHF-35), vimentina y negatividad para proteína S-100. ALK-1 resultó positivo en el 87,5% de los casos. Conclusión: El pseudotumor inflamatorio es una entidad de buen pronóstico que, con un buen diagnóstico histopatológico e inmunohistoquímico, todo urólogo debe conocer y distinguir para realizar un tratamiento quirúrgico tan conservador como sea posible (AU)

Objective: The inflammatory pseudotumor is a rare lesion, having benign behavior and some histological heterogeneity that appears in the genitourinary tract. A series of urogenital inflammatory pseudotumors are reviewed with emphasis on their clinicopathological and immunohistochemical characteristics. Material and methods: A retrospective study the causistics treated between January 1981 in December 2010 was performed. It identified the cases of inflammatory pseudotumor with urogenital localization. The variables age, gender, symptoms, topography, treatment and anatomopathological and immunohistochemical characteristics of each case were analyzed. Results: A total of 8 cases of the urogenital-located inflammatory pseudotumor are described. Of these, 6 were located in the bladder, one in the kidney and one in the epididymis. Mean age of the patients was 46.75 (±19.84) years. Tumor presentation symptoms were macroscopic hematuria, single symptom or accompanied by symptoms of the lower urinary tract and inguinoscrotal mass. In regards to treatment in the cases of bladder localization, transuretheral ± cystectomy were performed. In the case of kidney localization, treatment was made by means of pyelotomy and exeresis, and in the case of epididymis localization, simple exeresis was performed. The anatomopathological study showed inflammatory pseudotumor in every cases, having a mesenchymal and myxoid appearance, with fusiform cells of eosinophil cytoplasm, with presence of frequent inflammatory cells. The most common immunohistochemical pattern shows positivity for the muscle-specific actin (HHF-35), vimentin and negativity for protein S-100. ALK-1 was positive and 87.5% of the cases. Conclusion: The inflammatory pseudotumor is a condition having good prognosis which, when there is a good histopathological and immunohistochemical diagnosis, every urologist should recognize and distinguish in order to carry out as conservative a surgical treatment as possible (AU)

Spermatic cord myxoid liposarcoma presenting as an incarcerated inguinal hernia: report of a case and review of literatures.

Incarcerated inguinal hernia is a common surgical indication in the emergency room. Delayed diagnosis can result in ischemic bowel or bowel perforation. The reported incarcerated contents include bowel loop, mesentery, omentum and, rarely, malignant lesions, such as lymphoma, metastatic tumors etc. We report a new case of primary spermatic cord liposarcoma presenting as emergent incarcerated inguinal hernia and review the related literature.

Huge myxoid liposarcoma of the esophagus: a case report.

Although esophageal liposarcoma is an extremely rare tumor, liposarcoma is the most common soft tissue sarcoma in adults. Liposarcoma is currently classified into the types of well-differentiated, myxoid, round cell, pleomorphic and dedifferentiated liposarcoma. Up to now only a few cases of esophagus liposarcoma have been described in the world literature. We describe a myxoid type liposarcoma of the esophagus in a 68 year old man presented with hoarseness and intermittent dysphagea to solid food. He had a huge mass in his mouth which was mobile with gag reflex. A barium swallow, esophageal manometery and CT scan of the esophagus have not clearly revealed the mass. After endoscopic surgical resection of the tumor the histological examination revealed a myxoid liposarcoma. Both the presenting signs and symptoms and the histology type are rare for such tumor. This case demonstrate a rare differential diagnosis of intermittent dysphagia as early diagnosis is so important in those tumors and should kept in mind them, although they are quite rare.

Liposarcoma mixoide de mama. A propósito de un caso y revisión de la literatura / Myxoid liposarcoma of the breast. A case report and review of the literature

Presentamos el caso de una mujer de 40 años, sin antecedentes de interés, que consulta por palpación de nódulo mamario. La mamografía muestra una lesión nodular, bien delimitada, heterogénea, de 34mm, en el cuadrante superoexterno/prolongación axilar derecha. Se estudia mediante biopsia guiada por ecografía, con resultado de tumor mesenquimal con estroma mixoide, patrón vascular plexiforme y ocasionales células compatibles con lipoblastos. Con este diagnóstico se procede a la exéresis total de la lesión, que a la sección macroscópica muestra nódulo de bordes expansivos, de aspecto gelatinoso y características microscópicas de liposarcoma mixoide. Se presenta el caso y se revisa la literatura médica(AU)

A 40 year old woman presented with a palpable swelling in her right breast. She had no relevant past medical history. Mammography revealed a 34mm, well-defined heterogeneous nodular mass in the axillary tail of the upper external quadrant of the right breast. An ultrasound guided biopsy was performed, in which a mesenchymal tumour was found, with myxoid stroma, a plexiform capillary pattern and scattered cells that resembled lipoblasts. Subsequently, the tumour was excised. Macroscopy showed regular margins on the cut surface and a myxoid lesion. Microscopically the lesion was diagnosed as myxoid liposarcoma. The clinico-pathological features of the case are described and the pertinent literature discussed(AU)

Miofibroblastoma mixoide mamario / No disponible

El miofibroblastoma es un tumor muy poco frecuente,perteneciente a la familia de tumores benignos de células fusiformesdel estroma mamario. El miofibroblastoma mixoiderepresenta una rara variante histológica compuesta predominantementepor estroma mixoide, que puede plantearnosdificultades diagnósticas con otros tipos de lesiones mixoides.Presentamos un caso de un tumor en una mujer joven enque las características clínicas y de imagen sugerían un tumorbenigno y finalmente la histología y la inmunohistoquímicaconfirmaron el diagnóstico de miofibroblastoma mixoide mamario(AU)

Myofibroblastoma is an unusual tumor that belongs to thefamily of benign spindle cell tumor of the mamary stroma. Myxoidmyofibroblastoma is a rare histological variant composedpredominantly of a myxoid stroma, this can pose diagnosticproblems with other types of myxoid lesions.We report a case in a young woman which suggested by clinicaland radiological a benign tumor. Finally the histology andimmunohistochemistry confirmed the diagnostic of myxoidmyofibroblastoma of the breast(AU)