Clinical value of fluorescence in situ hybridization with MDM2 and DDIT3 probe in diagnosis of liposarcoma / 北京大学学报(医学版)

OBJECTIVE@#To investigate the value of using MDM2 amplification probe and DDIT3 dual-color, break-apart rearrangement probe fluorescence in situ hybridization (FISH) technique in the diagnosis of liposarcoma.@*METHODS@#In the study, 62 cases of liposarcoma diagnosed in Peking University First Hospital from January 2015 to December 2019 were analysed for clinicopathological information. Of these 62 cases of liposarcoma, all were analysed for MDM2 amplification and 48 cases were analysed for DDIT3 rearrangement using a FISH technique. Our study aimed to evaluate the status of MDM2 and DDIT3 by FISH in liposarcoma and correlate it with diagnosis of different subtypes of liposarcoma. The subtypes of liposarcoma were classified according to the FISH results, combined with the relevant clinicopathological features.@*RESULTS@#The patients aged 31-89 years (mean: 59 years) with a 1.75:1 male to female ratio. Histologically, there were 20 cases of atypical lipomatous tumour/well-differentiated liposarcoma (ALT/WDLPS), 26 cases of dedifferentiated liposarcoma (DDLPS), 13 myxoid liposarcoma (MLPS) and 3 pleomorphic liposarcoma (PLPS). Tumors with DDLPS (23/26) and WDLPS (8/20) were localized retroperitoneally, while both tumours of MLPS and PLPS were localized extra-retroperitoneally, and the difference of sites among the four subtypes of liposarcoma was statistically significant (P < 0.05). Histologically, varied mucoid matrix could be observed in the four subtypes of liposarcoma, and the difference was statistically significant (P < 0.05). MDM2 gene amplification was demonstrated in all cases of ALT/WDLPS and DDLPS (100%, 20/20 and 26/26 respectively); DDIT3 gene rearrangement was noted only in MLPS (100%, 13/13); most cases of DDLPS (96.2%, 25/26) and ALT/WDLPS (83.3%, 5/6, 6 cases selected for detection) demonstrated the picture of amplification of the DDIT3 telomeric tag. According to the instructions of DDIT3 break-apart rearrangement probe, the 5' telomere probe and 3' centromere probe spanned but did not cover the DDIT3 gene itself, on the contrary, the 5' telomere probe covered the CDK4 gene, while the DDIT3 and CDK4 gene were located adjacent to each other on chromosome, therefore, when the amplification signal appeared on the telomeric tag of the DDIT3 rearrangement probe, it indeed indicated the CDK4 gene amplification rather than the DDIT3 gene rearrangement. Then the 10 cases with DDIT3 telomeric tag amplification were selected for CDK4 and DDIT3 gene amplification probe FISH tests, and all the cases showed CDK4 gene amplification (100%, 10/10) and two of the 10 cases demonstrated co-amplification of CDK4 and DDIT3 (20%, 2/10); DDIT3 polysomy detected by DDIT3 gene rearrangement probe was found in 1 case of DDLPS and 2 cases of PLPS (66.7%, 2/3) with morphology of high-grade malignant tumour and poor prognosis.@*CONCLUSION@#Our results indicate that a diagnosis of different subtype liposarcoma could be confirmed based on the application of MDM2 and DDIT3 FISH, combined with clinicopathological findings. It is also noteworthy that atypical signals should be correctly interpreted to guide correct treatment of liposarcomas.

Retroperitoneal liposarcoma in a nonagenarian

Retroperitoneal liposarcomas are rare tumors arising from the soft tissue of the retroperitoneum and are of mesenchymal cell origin. They can reach a large size prior to causing symptoms and generally have a poor prognosis. We present the case of a 93-year-old lady presenting with a large retroperitoneal liposarcoma at the site of a previous colonic anastomosis for the adenocarcinoma treatment. It caused minimal symptoms initially, but surgical resection was undertaken when the tumor was found to be growing significantly in size. However, due to the tumor's location and its invasion into surrounding structures, the resection was not feasible and subsequently abandoned. A retroperitoneal liposarcoma arising from the site of a previous colonic resection has not been previously described. A review of the diagnosis and current management of these lesions is also given.

Primary colonic liposarcomatosis: report of a case with review of literature

The colon is a rare site of occurrence of liposarcoma, as either the primary site or by secondary involvement from a retroperitoneal liposarcoma. Liposarcomatosis denotes simultaneous occurrence of multiple liposarcomas. There are only 17 cases of primary colonic liposarcoma reported in the English literature­one of which was primary colonic liposarcomatosis. We depict the second case of primary colonic liposarcomatosis in a 57-year-old female who presented with abdominal swelling and pain. On exploratory laparotomy, two large masses were seen arising from the wall of the right colon along with multiple smaller masses attached to the colon. Right hemicolectomy with en bloc excision of the masses was performed along with hysterectomy and pelvic floor repair. Macroscopically, multiple exophytic masses and one endophytic mass were identified. The exophytic masses were of variable size and were found to hang from the colon by a thin pedicle simulating variable-sized appendices epiploicae. Histopathologically, the lesions showed the morphology of well-differentiated liposarcoma. This appears to be a case of primary colonic liposarcomatosis. There is only one other similar case reported in the English literature, to the best of our knowledge.

Extensive renal sinus lipomatosis in xanthogranulomatous pyelonephritis simulating liposarcoma

ABSTRACT Renal replacement lipomatosis is a condition characterized by varying degrees of renal parenchymal atrophy and perirenal fibrofatty proliferation secondary to chronic inflammation such as xanthogranulomatous pyelonephritis. In severe cases, imaging findings can be misdiagnosed as retroperitoneal liposarcoma.

Liposarcoma retroperitoneal gigante: a propósito de un caso / Giant retroperitoneal liposarcoma:a case report

Paciente masculino de 48 años con antecedente de hipertensión, que consulta por dolor abdominal difuso continuo, anorexia y aumento progresivo del perímetro abdominal. Al examen por TC se observa importante formación sólida heterogénea de densidad predominantemente grasa, que ocupa la casi totalidad del abdomen con desplazamiento de estructuras del abdomen superior; luego de la administración de medio de contraste formación presenta además componente de densidad de partes blandas de aspecto vegetante con realce heterogéneo que infiltra el retroperitoneo. Luego de su recesión completa, se concluye con el diagnostico de liposarcoma.

48 years old male patient with a history of hypertension, that consultation by diffuse abdominal pain continued, anorexia and progressive increase in the abdominal circumference. To review by TC is important training solid heterogeneous density predominantly fat that occupies almost the whole of the abdomen with displacement of structures in the upper abdomen, after the administration of contrast medium training is also a component of soft tissue density of vegetative aspect with heterogeneous enhancement that infiltrates the retroperitoneum, after his complete recession, it is concluded with the diagnosis of liposarcoma.

Giant atypical lipoma

Abstract: Liposarcomas correspond to the most common histological subtype of soft tissue sarcomas. They can be subdivided into: well differentiated or atypical lipoma, undifferentiated, myxoid, round, and pleomorphic cells. Atypical lipomas are the most prevalent and usually appear as asymptomatic softened tumors. They are locally aggressive but rarely lead to distant metastases. The diagnosis of this tumor is based on the imaging and histopathologic findings. Treatment consists of excision surgery with complete tumor removal. It has a good prognosis due to the low percentage of distant metastases. We report a rare case of giant atypical lipoma as well as the adopted therapy and evolution.

Liposarcoma bien diferenciado con extensa metaplasia ósea y desdiferenciación osteosarcomatosa / Well-differentiated liposarcoma with extensive bone metaplasia and osteosarcomatous dedifferentiation

Dentro de la familia de los liposarcomas, el subtipo bien diferenciado es el más frecuente, caracterizado por su alta tendencia a la recaída local y ubicación retroperitoneal. La desdiferenciación ocurre en alrededor del 10% de los casos y habitualmente se manifiesta histológicamente como sarcoma pleomorfo de alto grado. La desdiferenciación heteróloga es un hecho que ocurre inhabitualmente. Presentamos un caso que debutó como un liposarcoma de bajo grado (lipoma like) que en su evolución tomografica muestra extensas áreas calcificadas y su histología confirma la trasformación a un sarcoma de alto grado con diferenciación osteosarcomatosa (AU)

Within the family of liposarcomas, the welldifferentiated subtype is the most frequent, characterized by its high tendency to local relapse and retroperitoneal localization. Dedifferentiation occurs in about 10% of cases and usually manifests histologically as high-grade pleomorphic sarcoma. Heterologous dedifferentiation is unusual. We present a case that debuted as a low grade liposarcoma (lipoma like) that in its tomographic evolution shows extensive calcified areas and its histology confirms the transformation to a high grade sarcoma with osteosarcomatous differentiation (AU)

Giant gastric lipossarcoma: case report and review of the literature / Lipossarcoma gástrico gigante: relato de caso e revisão da literatura

ABSTRACT Liposarcoma is one of the most common soft tissue sarcomas in adults, occurring in 15 to 20% of all patients with sarcoma. Primary liposarcoma of the stomach is rare. We report a case of patient with giant gastric liposarcoma who underwent surgery after a gastrointestinal bleeding. Preoperative hystopathological diagnosis was not established, even after three biopsy attempts. We discuss differential diagnosis, genetic causes, diagnosis strategies and treatment.

RESUMO O lipossarcoma é um tipo comum de sarcomas em adultos, com incidência entre 15 e 20% entre os sarcomas. No entanto, o acometimento do estômago é raro. Relatamos um caso de um lipossarcoma primário gástrico gigante com apresentação clínica de hemorragia digestiva. Foi submetido a tratamento cirúrgico sem diagnóstico definitivo, apesar de três biópsias realizadas. Revisamos diagnósticos diferenciais, influência genética e estratégias diagnósticas e terapêuticas.

Occurrence of colonic liposarcoma after retroperitoneal liposarcoma

No abstract available.

Lipossarcoma periorbital em paciente pediátrico: relato de caso / Periorbital liposarcoma in pediatric patient: a case report

O objetivo desse estudo é descrever uma criança com lipossarcoma periorbital, caracterizando seus aspectos clínico-epidemiológicos e terapêuticos. Menina de 6 meses de idade com tumoração crescente há dois meses em região fronto-zigomática direita, a qual foi submetida à exérese e cujas análises anatomopatológica (AP) e imuno-histoquímica (IH) observaram achados típicos de lipoblastoma. Após isso, apresentou mais três recidivas tumorais com diagnósticos similares. Um ano depois da última cirurgia, houve nova recorrência, porém, dessa vez, o resultado dos exames análises anatomopatológica e imuno-histoquímica foi de lipossarcoma, sendo, então, encaminhada para complementar o tratamento com radio e quimioterapia, sem novas lesões até o momento. Devido a sua raridade, geralmente o lipossarcoma não entra no diagnóstico diferencial em pacientes com massas orbitais, porém, por ser localmente agressivo, torna-se vital a pronta identificação e tratamento de forma a oferecer melhores resultados terapêuticos e influência sobre a qualidade de vida do paciente.

The purpose of this study is report a child with periorbital liposarcoma describing the clinical, epidemiological and therapeutic aspects. Six-months-old female baby with increasing tumor in the right fronto-zigomatic region wich was submitted to excision and the patologic and immunohistochemistry analisys observed typical findings of lipoblastoma. After that, there were three tumors relapse with the same diagnosis. One year after the last surgery there was a recurrence of the tumor but at this time the diagnosis was lipossarcoma and the patient was referred for additional treatment wilth radiotherapy and chemotherapy no new injuries so far Due to its rarity, liposarcoma usually does not enter the differencial diagnosis in the patients with orbital masses, however because of its local aggressiveess, it's vital the early identification and treatment to provide better therapeutic results and quality of life.

Critical histopathological analysis of 25 dedifferentiated liposarcomas, including uncommon variants, reviewed at a Tertiary Cancer Referral Center.

Background: De-differentiated liposarcomas (DDLSs) are uncommon tumors with a wide histopathological spectrum. Materials and Methods: Over an 8-year period (2003-2011), 25 DDLSs, after review, were critically analyzed for histopathological features. Results: Twenty-five tumors, in 14 men and 11 women (M: F = 1.2:1), with age range of 22-88 years (mean, 53.9), occurred in retroperitoneum (14) (56%), thigh (3) (12%), paratesticular region (3) (12%), chest wall (2) (8%), leg (1) (4%), shoulder (1) (4%), and groin (1) (4%). Tumor size (21 tumors) varied from 7.5 to 25 cm (mean, 17.5). Histopathologically, DD component was high grade in 19 (76%) and low grade in 6 (24%) tumors. Whereas the most common WD component was adipocytic type; the most common DD component was pleomorphic sarcomatous (13) (52%), followed by myxofibrosarcomatous (MFS)-type (6) (24%). Low-grade DD components included MFS (2), fibrosarcoma (2), myogenic/myofibroblastic type (1), and IMFT-type (1). Three tumors displayed meningothelial-like whorls and metaplastic bone formation. Heterologous elements, noted in 11 (44%) tumors, included bone (8) and rhabdomyoblastic differentiation (2). Two tumors displayed homologous differentiation, reinforced with MDM2 staining. S100-P was diffusely positive in WD components (5/7) and focally in DD components (2/9). All patients were treated with surgery, including 10, who underwent adjuvant radiotherapy. Outcomes (16 patients, 64%), over 1-48 months included 10 patients free of disease, 4 died of disease, and 2 patients alive with disease. Conclusions: This study forms the largest documentation of DDLSs, including its wide histopathological spectrum, from our country. Rare cases overlap with pleomorphic liposarcoma. S100-P and MDM2 are useful in substantiating adipocytic differentiation, especially in selected cases. Analysis of adequate tumor sections is vital for correct identification of a DDLS. Surgical excision with adjuvant RT forms optimal treatment.

Primary pleomorphic liposarcoma of breast: A rare case report.

Sarcoma of the breast constitutes less than 1% of all malignant breast tumors and liposarcoma of the breast has an incidence of 0.3% of all the mammary sarcomas. A 47-year-old woman presented with a mass in the right breast and mammography was suggestive of a malignant lesion. Modified radical mastectomy was performed. The tumor was diagnosed histologically as a pleomorphic liposarcoma. The patient was discharged and her postoperative recovery was uneventful.

Liposarcoma mediastínico metastásico / Metastatic liposarcoma present in mediastinum

Se presenta el caso de una mujer de 59 años que había sido intervenida quirúrgicamente en 3 ocasiones por presentar nódulos en el cuello. La biopsia de 2 de ellos informaba que se trataba de un liposarcoma pleomórfico. Pasados 6 años acude a consulta por un cuadro de dolor retroesternal alto y ligera disnea. La tomografía de tórax muestra una masa sólida en el mediastino anterior. Se realizó la exéresis de una tumoración de consistencia blanda, de 10 cm. Anatomía patológica informó la recidiva de un liposarcoma pleomórfico. La evolución posoperatoria en general fue satisfactoria. La literatura revisada muestra que el tratamiento quirúrgico es el más empleado en estos casos(AU)

Authors present the case of a woman aged 59 operated on in three occasions due to the presence of neck nodules. Biopsy from two of them informs that be about a pleomorphous liposarcoma. After 6 years she came to consultation by a picture of high retrosternal pain and slight dyspnea. Thorax tomography shows a solid mass in anterior mediastinum. We made exeresis of a 10 cm diameter soft solid mass. Pathological Anatomy Service reported on relapse of a pleomorphous liposarcoma. In general, the postoperative course was satisfactory. Literature reviewed shows that the surgical treatment is the more used procedure in these cases(AU)

Chondroid lipoma in a child.

Chondroid lipoma (CL), a rare lipoma variant, has not been described well for patients younger than 14 years of age. We herein report an extremely unusual instance of CL in a 7-year-old child. The cut surface of the tumor showed peculiar tan-brown and yellow-white areas. Histopathological sections showed the presence of eosinophilic variably vacuolated round- to oval-spindle cells in a myxo-hyaline background. The findings were consistent with CL. The case is reported because of its extreme rarity.

Liposarcoma metastásico en mama de origen testicular: a propósito de un caso / Liposarcoma metastatic breast of testicular origin: a purpose of a case

El liposarcoma es un tumor de la vida adulta, diagnosticado con mayor frecuencia en individuos entre los 50 y 65 años de edad. Los sitios más frecuentes de presentación son los muslos y el retroperitoneo, siendo infrecuente la localización testicular y en mamas y la asociación con otros tumores es aún más excepcional. Aquellos liposarcomas que el patólogo identifica como "bien diferenciados" no suelen dar metástasis, a su vez el cáncer de mama en el hombre es una enfermedad rara y poco frecuente que se presenta en una proporción muy baja con respecto a los diferentes tipos de cánceres, dicha entidad constituye el 0,2 1,5 por ciento de todos los tumores malignos en los hombres y aproximadamente el 1 por ciento de los cánceres mamarios en ambos sexos. El objetivo principal es reportar un caso de un paciente masculino de 55 años de edad quién refiere inicio de enfermedades de 23 años de evolución caracterizada por pequeño aumento de tamaño en mama izquierda y la cual hace 4 años ha aumentado rápida y progresivamente de tamaño; concomitantemente presenta aumento de tamaño en región testicular y tumoración en mama derecha realizándosele biopsias en dichas zonas resultando compatible con liposarcoma bien diferenciado.

Liposarcoma primario de mesenterio: reporte de un caso / Primary mesenteric mixto liposarcoma: report of a case

Los liposarcoma primarios de mesenterio son neoplasias muy raras poco frecuentes de ver. En el presente trabajo reportamos un caso donde un paciente se presenta con una historia, al ingreso hospitalario, de politraumatismo.

Renal sparing surgery for perirenal liposarcoma: 24 months recurrence free follow up

Liposarcoma is the most common pathology seen in the soft tissue sarcoma of retroperitoneum. These tumors have been traditionally treated with radical surgery sacrificing adjacent organs to achieve clear margins. We have reported our experience of renal sparing surgery for perirenal liposarcoma in two patients with more than 24 month disease free survival.