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2.
Rev Esp Patol ; 51(4): 239-243, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30269775

RESUMO

We report a case of Ewing sarcoma localized in the prostate gland of a 33-year-old patient without bone or soft tissue involvement. Evidence of EWS and FLI1 gene translocation was detected by fluorescence in situ hybridization (FISH). This is an unusual case with an interesting clinical presentation; indeed, only a few cases have been reported to date and not all have the supporting biological studies now considered essential for the diagnosis.


Assuntos
Neoplasias da Próstata/patologia , Sarcoma de Ewing/patologia , Adulto , Biomarcadores Tumorais/análise , Biópsia , Humanos , Hibridização in Situ Fluorescente , Masculino , Proteínas de Neoplasias/análise , Proteínas de Neoplasias/genética , Neoplasias da Próstata/química , Neoplasias da Próstata/diagnóstico por imagem , Neoplasias da Próstata/genética , Proteína Proto-Oncogênica c-fli-1/análise , Proteína Proto-Oncogênica c-fli-1/genética , Proteína EWS de Ligação a RNA/análise , Proteína EWS de Ligação a RNA/genética , Sarcoma de Ewing/química , Sarcoma de Ewing/diagnóstico por imagem , Sarcoma de Ewing/genética
3.
Nat Rev Dis Primers ; 4(1): 5, 2018 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-29977059

RESUMO

Ewing sarcoma is the second most frequent bone tumour of childhood and adolescence that can also arise in soft tissue. Ewing sarcoma is a highly aggressive cancer, with a survival of 70-80% for patients with standard-risk and localized disease and ~30% for those with metastatic disease. Treatment comprises local surgery, radiotherapy and polychemotherapy, which are associated with acute and chronic adverse effects that may compromise quality of life in survivors. Histologically, Ewing sarcomas are composed of small round cells expressing high levels of CD99. Genetically, they are characterized by balanced chromosomal translocations in which a member of the FET gene family is fused with an ETS transcription factor, with the most common fusion being EWSR1-FLI1 (85% of cases). Ewing sarcoma breakpoint region 1 protein (EWSR1)-Friend leukaemia integration 1 transcription factor (FLI1) is a tumour-specific chimeric transcription factor (EWSR1-FLI1) with neomorphic effects that massively rewires the transcriptome. Additionally, EWSR1-FLI1 reprogrammes the epigenome by inducing de novo enhancers at GGAA microsatellites and by altering the state of gene regulatory elements, creating a unique epigenetic signature. Additional mutations at diagnosis are rare and mainly involve STAG2, TP53 and CDKN2A deletions. Emerging studies on the molecular mechanisms of Ewing sarcoma hold promise for improvements in early detection, disease monitoring, lower treatment-related toxicity, overall survival and quality of life.


Assuntos
Sarcoma de Ewing/diagnóstico , Antígeno 12E7/análise , Antígeno 12E7/sangue , Humanos , Metástase Neoplásica/fisiopatologia , Proteína Proto-Oncogênica c-fli-1/análise , Proteína Proto-Oncogênica c-fli-1/sangue , Qualidade de Vida/psicologia , Proteína EWS de Ligação a RNA/análise , Proteína EWS de Ligação a RNA/sangue , Radiografia/métodos , Fatores de Risco , Sarcoma de Ewing/sangue , Sarcoma de Ewing/fisiopatologia
4.
Zhonghua Bing Li Xue Za Zhi ; 47(2): 110-113, 2018 Feb 08.
Artigo em Chinês | MEDLINE | ID: mdl-29429162

RESUMO

Objective: To study the clinicopathologic features, diagnosis and differential diagnosis of pulmonary microcystic fibromyxoma. Methods: In March 2014, at the First Affiliated Hospital to Nanjing Medical University a 58-year-old female patient of pulmonary microcystic fibromyxoma was collected. The clinicopathologic, immunohistochemical and genetic profile of a case of pulmonary microcystic fibromyxoma were studied, and the relevant literature reviewed. Results: The patient was a 58-year-old female who presented with cough and sputum for 1 month. CT scan disclosed a 15 mm nodule in her right middle lobe of lung. The patient underwent a wedge resection with negative margin. Grossly, a well-demarcated peripheral lung nodule was detected, measuring 1.5 cm×1.5 cm×1.0 cm, with myxoid tan-white cut surface containing microcysts. Microscopically, the tumor was composed of bland spindled to stellate-shaped cells widely spaced within prominent fibromyxoid stroma with prominent cystic change. No mitosis or necrosis was present. There were inconspicuous slim curvilinear capillaries and occasional collection of stromal lymphocytes and plasma cells. Immunohistochemically, the tumor cells were positive for vimentin, but negative for CD34, SMA, desmin, S-100 protein, ALK, CKpan, EMA, calretinin and TTF1. Fluorescence in situ hybridization did not show chromosomal translocation involving EWSR1, DDIT3 or FUS genes. The patient was recurrence or metastasis free after follow-up for 38 months. Conclusion: Pulmonary microcystic fibromyxoma is a rare benign lesion that should be differentiated from other lung tumors with myxoid characteristics.


Assuntos
Fibroma/química , Fibroma/patologia , Neoplasias Pulmonares/química , Neoplasias Pulmonares/patologia , Proteínas de Ligação a Calmodulina/análise , Diagnóstico Diferencial , Feminino , Humanos , Hibridização in Situ Fluorescente , Pessoa de Meia-Idade , Proteína EWS de Ligação a RNA/análise , Proteínas S100/análise , Tomografia Computadorizada por Raios X , Vimentina/análise
5.
Mol Cell ; 43(3): 353-68, 2011 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-21816343

RESUMO

The Ewing sarcoma (EWS) protein is a member of the TET (TLS/EWS/TAF15) family of RNA- and DNA-binding proteins whose expression is altered in cancer. We report that EWS depletion results in alternative splicing changes of genes involved in DNA repair and genotoxic stress signaling, including ABL1, CHEK2, and MAP4K2. Chromatin and RNA crosslinking immunoprecipitation results indicate that EWS cotranscriptionally binds to its target RNAs. This association is reduced upon irradiation of cells with ultraviolet light, concomitant with transient enrichment of EWS in nucleoli and with alternative splicing changes that parallel those induced by EWS depletion and that lead to reduced c-ABL protein expression. Consistent with the functional relevance of EWS-mediated alternative splicing regulation in DNA damage response, EWS depletion reduces cell viability and proliferation upon UV irradiation, effects that are attenuated by restoring c-ABL expression. These results provide insights into posttranscriptional mechanisms of DNA damage response by a TET protein.


Assuntos
Processamento Alternativo , Dano ao DNA , Proteína EWS de Ligação a RNA/fisiologia , Nucléolo Celular/metabolismo , Reparo do DNA/genética , Técnicas de Silenciamento de Genes , Células HeLa , Humanos , Interferência de RNA , Precursores de RNA/metabolismo , RNA Mensageiro/metabolismo , Proteína EWS de Ligação a RNA/análise , Proteína EWS de Ligação a RNA/antagonistas & inibidores
6.
Ann Pathol ; 31(1): 28-31, 2011 Feb.
Artigo em Francês | MEDLINE | ID: mdl-21349385

RESUMO

We report the case of a voluminous tumor of the adrenal diagnosed in a young pregnant woman at 26(th) week of amenorrhea. Morphologically, a soft white tumor with haemorragic areas was observed, made of sheets of monomorphous, medium sized, spindle-shaped to polygonal, with high mitotic activity. Tumorous cells expressed cytokeratins AE1/AE3, EMA, and CD99 (expression of vimentin is not relevant). Contemplated diagnoses included poorly differentiated synovialosarcoma, sarcomatoid carcinoma and Ewing tumor. Thanks to molecular biology, showing the specific transcript of Ewing/peripheral primitive neuroectodermal tumor (pPNET) EWS/FLI1, the diagnosis of this atypical tumor in an unusual location was performed. Indeed, 75% of Ewing tumors involve bones (especially, the diaphysis of long bones) and 20 to 25% soft tissues. Primitive visceral involvement is rare; less than 10 cases of adrenal involvement have been reported. The hypothesis that Ewing cell's origin is a mesenchymal stem cell, which may derive from neural crest cell, could explain the uncommon adrenal involvement. Diagnosis of Ewing tumor is based on pathologic and molecular findings, especially in atypical cases.


Assuntos
Neoplasias das Glândulas Suprarrenais/patologia , Tumores Neuroectodérmicos Primitivos/patologia , Complicações Neoplásicas na Gravidez/patologia , Sarcoma de Ewing/patologia , Neoplasias das Glândulas Suprarrenais/química , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Adrenalectomia , Adulto , Biomarcadores Tumorais/análise , Carcinoma/diagnóstico , Transformação Celular Neoplásica , Cesárea , Quimioterapia Adjuvante , Terapia Combinada , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Excisão de Linfonodo , Células-Tronco Mesenquimais/patologia , Tumores Neuroectodérmicos Primitivos/química , Tumores Neuroectodérmicos Primitivos/complicações , Tumores Neuroectodérmicos Primitivos/diagnóstico , Tumores Neuroectodérmicos Primitivos/terapia , Proteínas de Fusão Oncogênica/análise , Especificidade de Órgãos , Feocromocitoma/diagnóstico , Pré-Eclâmpsia , Gravidez , Complicações Neoplásicas na Gravidez/diagnóstico , Complicações Neoplásicas na Gravidez/terapia , Proteína Proto-Oncogênica c-fli-1/análise , Proteína EWS de Ligação a RNA/análise , Radioterapia Adjuvante , Sarcoma de Ewing/química , Sarcoma de Ewing/complicações , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/terapia , Sarcoma Sinovial/diagnóstico
7.
Am J Surg Pathol ; 34(7): 1002-6, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20495444

RESUMO

All of the members of the peripheral primitive neuroectodermal tumor family (Ewing sarcomas, neuroectodermal tumors of bone, peripheral neuroepitheliomas, and Askin tumors) have similar morphologic and immunophenotypical features (ie, the proliferation of small and medium-sized round cells in a fibrous background showing strong and diffuse immunohistochemical positivity for CD99), and the common cytogenetic abnormality of a nonrandom translocation involving the EWS gene and one of several members of the erythroblastosis virus transforming sequence family of transcription factors. The combination of clinical information and morphologic/immunophenotypical characteristics is usually sufficient for a correct diagnosis, but there are rare cases in which an unusual predominant or multidirectional immunophenotypical differentiation makes diagnosis a challenge and requires the use of molecular cytogenetic or molecular techniques. We describe 3 such cases in which we employed fluorescence in-situ hybridization analysis to detect translocation involving the EWS gene and reverse transcription polymerase chain reaction followed by sequencing to detect the fusion transcript EWS-FLI1.


Assuntos
Transformação Celular Neoplásica , Melanócitos/patologia , Células Musculares/patologia , Tumores Neuroectodérmicos Primitivos Periféricos/patologia , Neoplasias de Tecidos Moles/patologia , Adolescente , Adulto , Biomarcadores Tumorais , Proliferação de Células , DNA de Neoplasias/análise , Desmina/análise , Expressão Gênica , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Melanócitos/química , Células Musculares/química , Tumores Neuroectodérmicos Primitivos Periféricos/genética , Proteínas de Fusão Oncogênica/análise , Proteínas de Fusão Oncogênica/genética , Proteína Proto-Oncogênica c-fli-1/análise , Proteína Proto-Oncogênica c-fli-1/genética , RNA Mensageiro/metabolismo , Proteína EWS de Ligação a RNA/análise , Proteína EWS de Ligação a RNA/genética , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/genética , Translocação Genética
9.
J Mol Biol ; 386(1): 1-13, 2009 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-19133275

RESUMO

The Ewing sarcoma (EWS) protein is a member of a large family of RNA-binding proteins. Chimeric EWS oncoproteins generated by chromosomal translocations between the EWS protein and several transcription factors cause various malignant tumors. Due to its multifunctional properties, the EWS protein is involved in such processes as meiotic DNA pairing/recombination, cellular senescence, gene expression, RNA processing and transport, and cell signaling. The EWS protein is predominantly located in the nucleus. It was found in the cytoplasm and associated with the cell membrane. In this study, analysis of the localization of endogenous and fluorescently labeled recombinant EWS protein in different phases of the cell cycle in different cell lines revealed a very dynamic subcellular distribution of the EWS protein. In Cos7 and HeLa cells, an association of the EWS protein with the centrosomal compartments was shown. Furthermore, in HEK (human embryonic kidney)-293 (T) cells, an interaction of the overexpressed recombinant EWS-yellow fluorescent protein fusion protein with microtubules, leading to their stabilization and cell cycle arrest, was demonstrated. As an outlook, the present findings provide an important insight into temporally and spatially regulated functions of the EWS protein and, particularly, into its role in the regulation of the cell cycle and possibly cell differentiation.


Assuntos
Microtúbulos/metabolismo , Proteína EWS de Ligação a RNA/análise , Proteína EWS de Ligação a RNA/metabolismo , Ciclo Celular , Diferenciação Celular , Linhagem Celular , Linhagem Celular Tumoral , Proliferação de Células , Centrossomo/metabolismo , Glutationa Transferase/genética , Glutationa Transferase/metabolismo , Células HeLa , Humanos , Microscopia Confocal , Microtúbulos/efeitos dos fármacos , Nocodazol/farmacologia , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo
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