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[PMID]:28197724
[Au] Autor:Yamada Y; Kuda M; Kohashi K; Yamamoto H; Takemoto J; Ishii T; Iura K; Maekawa A; Bekki H; Ito T; Otsuka H; Kuroda M; Honda Y; Sumiyoshi S; Inoue T; Kinoshita N; Nishida A; Yamashita K; Ito I; Komune S; Taguchi T; Iwamoto Y; Oda Y
[Ad] Endereço:Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka-shi, Fukuoka-ken, 812-8582, Japan.
[Ti] Título:Histological and immunohistochemical characteristics of undifferentiated small round cell sarcomas associated with CIC-DUX4 and BCOR-CCNB3 fusion genes.
[So] Source:Virchows Arch;470(4):373-380, 2017 Apr.
[Is] ISSN:1432-2307
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:CIC-DUX4 and BCOR-CCNB3 fusion-gene-associated small round cell sarcomas account for a proportion of pediatric small round cell sarcomas, but their pathological features have not been sufficiently clarified. We reviewed a large number of soft tissue tumors registered at our institution, retrieved the cases of unclassified tumors with a small round cell component, and subjected them to histopathological, immunohistochemical, and gene profile analysis. We reviewed 164 cases of unclassified tumors with a small round cell component and analyzed them by RT-PCR and FISH. Tumors positive for a specific fusion-gene were also subjected to histopathological and immunohistochemical examinations. We identified 16 cases of BCOR-CCNB3/CIC-associated (CIC-DUX4 or CIC gene rearrangement-positive) sarcomas. These included seven BCOR-CCNB3 sarcomas and nine CIC-associated sarcomas. Heterogeneous elements included a myxoid spindle cell component in three BCOR-CCNB3 sarcomas and an epithelioid cell component in two CIC-associated sarcomas (one CIC-DUX4-positive and one CIC-DUX4-negative sarcomas). Mitotic activity was low in both heterogeneous components. By immunohistochemistry, in seven BCOR-CCNB3 sarcomas expression of EMA was positive in two cases, of p63 in three, of CD56 in six, of TLE1 in seven, of NKX2.2 in two, of CCNB3 in seven, and of BCOR in six cases (one case could not be tested for BCOR). In nine cases of CIC-associated sarcoma, CD56 was expressed in five, alpha-smooth muscle actin in one, ERG in three, and CD99, WT1 and TLE1 each in eight cases. Both sarcoma types showed not only a small round cell component, but also a myxoid/epithelioid component with low mitotic activity.
[Mh] Termos MeSH primário: Ciclina B/genética
Proteínas de Fusão Oncogênicas/genética
Proteínas Proto-Oncogênicas/genética
Proteínas Repressoras/genética
Sarcoma de Células Pequenas/genética
Neoplasias de Tecidos Moles/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Biomarcadores Tumorais/análise
Criança
Feminino
Seres Humanos
Imuno-Histoquímica
Hibridização in Situ Fluorescente
Masculino
Meia-Idade
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Sarcoma de Células Pequenas/patologia
Neoplasias de Tecidos Moles/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BCOR protein, human); 0 (Biomarkers, Tumor); 0 (CCNB3 protein, human); 0 (CIC-DUX4 fusion protein, human); 0 (Cyclin B); 0 (Oncogene Proteins, Fusion); 0 (Proto-Oncogene Proteins); 0 (Repressor Proteins)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170216
[St] Status:MEDLINE
[do] DOI:10.1007/s00428-017-2072-8


  2 / 166 MEDLINE  
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[PMID]:27790742
[Au] Autor:Smith SC; Palanisamy N; Martin E; Almenara J; McHugh JB; Choi EK; Lucas DR; Betz BL; Thomas D; Patel RM
[Ad] Endereço:Department of Pathology, VCU School of Medicine, Richmond, VA, USA.
[Ti] Título:The utility of ETV1, ETV4 and ETV5 RNA in-situ hybridization in the diagnosis of CIC-DUX sarcomas.
[So] Source:Histopathology;70(4):657-663, 2017 Mar.
[Is] ISSN:1365-2559
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIMS: A recently characterized group of undifferentiated small round cell sarcomas harbours fusions of the genes CIC and DUX4. Studies report a distinctive gene expression profile for these sarcomas, including expression of E26 transformation-specific (ETS) family proto-oncogenic transcription factors ETV1, ETV4 and ETV5. To test the utility of an ancillary diagnostic technique for these tumours, we evaluated chromogenic RNA in-situ hybridization assays for ETV1, ETV4 and ETV5 as diagnostic adjuncts for this emerging group of highly malignant sarcomas. METHODS AND RESULTS: We tested six confirmed CIC-DUX4 sarcomas and 105 lesions in the differential, including 48 Ewing sarcomas for expression of ETV1, ETV4 and ETV5, scoring expression utilizing a previously validated scale. ETV1 and ETV4 were positive in five of six cases, while ETV5 was positive in six of six. No Ewing sarcoma or other sarcoma tested showed coexpression of these transcripts, while one ETV1/ETV4/ETV5 triple positive previously unclassified round cell sarcoma was identified as harbouring a CIC rearrangement by break-apart fluorescence in-situ hybridization (FISH). CONCLUSION: We identified overexpression of ETV1, ETV4 and ETV5 transcripts in situ in CIC-DUX4 sarcomas using a robust assay in routine archival sections. One previously unclassified round cell sarcoma showed ETV1/4/5 positivity, and was proved to harbour a CIC rearrangement by break-apart FISH. The sensitivity and specificity observed with our in-situ hybridization assay implies potential utility as an ancillary diagnostic technique, particularly when faced with limited biopsy samples.
[Mh] Termos MeSH primário: Proteínas E1A de Adenovirus/biossíntese
Biomarcadores Tumorais/análise
Proteínas de Ligação a DNA/biossíntese
Hibridização In Situ/métodos
Proteínas Proto-Oncogênicas/biossíntese
Sarcoma de Células Pequenas/diagnóstico
Fatores de Transcrição/biossíntese
[Mh] Termos MeSH secundário: Proteínas E1A de Adenovirus/análise
Adulto
Proteínas de Ligação a DNA/análise
Feminino
Seres Humanos
Masculino
Proteínas de Fusão Oncogênicas/análise
Proteínas de Fusão Oncogênicas/genética
Proteínas Proto-Oncogênicas/análise
RNA/análise
Estudos Retrospectivos
Sarcoma de Células Pequenas/genética
Sensibilidade e Especificidade
Fatores de Transcrição/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adenovirus E1A Proteins); 0 (Biomarkers, Tumor); 0 (CIC-DUX4 fusion protein, human); 0 (DNA-Binding Proteins); 0 (ETV1 protein, human); 0 (ETV4 protein, human); 0 (ETV5 protein, human); 0 (Oncogene Proteins, Fusion); 0 (Proto-Oncogene Proteins); 0 (Transcription Factors); 63231-63-0 (RNA)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170613
[Lr] Data última revisão:
170613
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161030
[St] Status:MEDLINE
[do] DOI:10.1111/his.13112


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[PMID]:27482634
[Au] Autor:Hery AL; Ornvold K; Memoli V; Bridge J; Linos K
[Ad] Endereço:Department of Pathology, Dartmouth-Hitchcock Medical Center, Geisel School of Medicine at Dartmouth, Lebanon, NH, USA.
[Ti] Título:A case of CIC-rearranged undifferentiated round-cell sarcoma with exclusive spindled morphology and diffuse CD99 positivity: a potential pitfall.
[So] Source:Histopathology;70(2):314-316, 2017 Jan.
[Is] ISSN:1365-2559
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Antígeno 12E7/biossíntese
Proteínas Repressoras/genética
Sarcoma de Células Pequenas/diagnóstico
[Mh] Termos MeSH secundário: Antígeno 12E7/análise
Biomarcadores Tumorais/análise
Criança
Erros de Diagnóstico
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Recidiva Local de Neoplasia
Sarcoma de Ewing/diagnóstico
Sarcoma de Ewing/genética
Sarcoma de Ewing/patologia
Sarcoma de Células Pequenas/genética
Sarcoma de Células Pequenas/patologia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (12E7 Antigen); 0 (Biomarkers, Tumor); 0 (CD99 protein, human); 0 (CIC protein, human); 0 (Repressor Proteins)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160803
[St] Status:MEDLINE
[do] DOI:10.1111/his.13051


  4 / 166 MEDLINE  
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[PMID]:27838075
[Au] Autor:Zehani A; Chelly I; Coindre JM; Haouet S; Kchir N
[Ad] Endereço:Service anatomie pathologique, hôpital La Rabta, 1007 Tunis, Tunisie. Electronic address: alia.zehanikassar@gmail.com.
[Ti] Título:[A new variant of digestive round cell sarcoma in a child].
[Ti] Título:Une nouvelle variante de sarcome digestif à cellules rondes chez un enfant..
[So] Source:Ann Pathol;36(6):420-422, 2016 Dec.
[Is] ISSN:0242-6498
[Cp] País de publicação:France
[La] Idioma:fre
[Mh] Termos MeSH primário: Neoplasias do Colo/patologia
Sarcoma de Células Pequenas/patologia
[Mh] Termos MeSH secundário: Dor Abdominal/diagnóstico por imagem
Dor Abdominal/etiologia
Adolescente
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico
Colectomia
Neoplasias do Colo/diagnóstico
Neoplasias do Colo/genética
Neoplasias do Colo/terapia
Hemorragia Gastrointestinal/etiologia
Seres Humanos
Achados Incidentais
Masculino
Artes Marciais/lesões
Proteínas de Fusão Oncogênicas/genética
Neoplasias Peritoneais/secundário
Sarcoma de Células Pequenas/diagnóstico
Sarcoma de Células Pequenas/genética
Sarcoma de Células Pequenas/secundário
Sarcoma de Células Pequenas/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CIC-DUX4 fusion protein, human); 0 (Oncogene Proteins, Fusion)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161114
[St] Status:MEDLINE


  5 / 166 MEDLINE  
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[PMID]:27324529
[Au] Autor:Ito M; Ishikawa M; Kitajima M; Narita J; Hattori S; Endo O; Goto K
[Ad] Endereço:Department of Diagnostic Pathology, Kainan Hospital, 396 Minamihonden, Maegasu-Cho, Yatomi, Aichi, 498-8502, Japan.
[Ti] Título:A case report of CIC-rearranged undifferentiated small round cell sarcoma in the cerebrum.
[So] Source:Diagn Cytopathol;44(10):828-32, 2016 Oct.
[Is] ISSN:1097-0339
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CIC-rearranged undifferentiated small round cell sarcoma (CIC-rearranged USRCS) is a recently established type of Ewing-like small round cell sarcomas, characterized by CIC gene rearrangement, most commonly CIC-DUX4 fusion. This report presents the second case of CIC-rearranged USRCS arising primarily in the cerebrum. A 64-year-old otherwise healthy woman presented with a 1 × 1 cm sized hemorrhagic subcortical tumor in the left temporo-parietal lobe. The tumor repeatedly recurred, and the patient underwent three surgeries, chemotherapy with doxorubicin and ifosfamide, and radiotherapy, as well as gamma knife surgery. Systemic examination revealed no other extracranial masses. Imprint cytology revealed small to moderate-sized round-to-ovoid tumor cells with mild pleomorphism and variations in size and shape. The nuclei contained finely granular chromatin, and some had easily-recognizable nucleoli. The tumor exhibited a mainly cytoplasmic pattern of CD99 immunostaining, rather than a diffuse membranous pattern. The tumor also exhibited diffuse positivity for calretinin and p16, as well as partial positivity for WT1 (nuclear and cytoplasmic staining pattern) and D2-40. FISH assessment showed CIC split signals. In conclusion, CIC-rearranged USRCSs can occur primarily in the cerebrum. It would be impossible to diagnose them through cytology alone, but cytology would be useful to rule out other small round cell brain tumors including gliomas, lymphomas, carcinomas, and germinoma. Immunohistochemical analysis including tests for CD99, calretinin, and WT1 would help to suggest CIC-rearranged USRCSs and distinguish them from Ewing sarcomas. Additionally, immunohistochemistry for p16 might be useful in the diagnosis. Diagn. Cytopathol. 2016;44:828-832. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Neoplasias Ósseas/patologia
Neoplasias Encefálicas/patologia
Cérebro/patologia
Proteínas de Fusão Oncogênicas/metabolismo
Sarcoma de Ewing/patologia
Sarcoma de Células Pequenas/patologia
[Mh] Termos MeSH secundário: Antígeno 12E7/genética
Antígeno 12E7/metabolismo
Biomarcadores Tumorais/genética
Biomarcadores Tumorais/metabolismo
Neoplasias Ósseas/diagnóstico por imagem
Neoplasias Ósseas/metabolismo
Neoplasias Encefálicas/diagnóstico por imagem
Neoplasias Encefálicas/metabolismo
Cérebro/diagnóstico por imagem
Inibidor p16 de Quinase Dependente de Ciclina
Diagnóstico Diferencial
Feminino
Seres Humanos
Meia-Idade
Proteínas de Neoplasias/genética
Proteínas de Neoplasias/metabolismo
Proteínas de Fusão Oncogênicas/genética
Sarcoma de Ewing/diagnóstico por imagem
Sarcoma de Ewing/metabolismo
Sarcoma de Células Pequenas/diagnóstico por imagem
Sarcoma de Células Pequenas/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (12E7 Antigen); 0 (Biomarkers, Tumor); 0 (CIC-DUX4 fusion protein, human); 0 (Cyclin-Dependent Kinase Inhibitor p16); 0 (Neoplasm Proteins); 0 (Oncogene Proteins, Fusion); 0 (P16 protein, human)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160622
[St] Status:MEDLINE
[do] DOI:10.1002/dc.23520


  6 / 166 MEDLINE  
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[PMID]:27180056
[Au] Autor:Machado I; Navarro L; Pellin A; Navarro S; Agaimy A; Tardío JC; Karseladze A; Petrov S; Scotlandi K; Picci P; Llombart-Bosch A
[Ad] Endereço:Instituto Valenciano de Oncología (FIVO), Pathology Dept, Valencia,Spain. Electronic address: isidro.machado@uv.es.
[Ti] Título:Defining Ewing and Ewing-like small round cell tumors (SRCT): The need for molecular techniques in their categorization and differential diagnosis. A study of 200 cases.
[So] Source:Ann Diagn Pathol;22:25-32, 2016 Jun.
[Is] ISSN:1532-8198
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Differentiation of Ewing sarcoma family of tumors (ESFT) and Ewing-like tumors remains problematic. Certain ESFT with morphological and immunohistochemical (IHC) profiles lack the EWSR1-ETS transcript. To improve diagnostic accuracy we investigated the presence of several specific transcripts in 200 small round cell tumors (SRCT) displaying ESFT morphology and immunophenotype in which EWSR1 FISH analysis was non-informative or negative. DESIGN: 200 tumors (formalin-fixed, paraffin-embedded) were analyzed by RT-PCR. All tumors were tested for EWSR1-ETS, EWSR1/WT1, PAX3/7-FOX01 or SYT/SSX transcripts, and the negative tumors were subsequently analyzed for CIC/DUX4, BCOR/CCNB3 and CIC/FOX04 transcripts. RESULTS: 133 (66.5%) ESFT displayed one of the above EWSR1-ETS translocations. Three cases (1.5%) revealed the SYT-SSX transcript for Synovial sarcoma, and one (0.5%) a EWSR1-WT1 transcript for Desmoplastic Small Round Cell tumor. The CIC-DUX4 translocation was found in six Ewing-like tumors (3%) with CD99 positivity. The BCOR-CCNB3 gene fusion was observed in 5 tumors (2.5%) displaying round or spindle cells with strong CCNB3 IHC expression in 3 tumors. Moreover, RT-PCR failed to detect any gene fusion transcripts in 19 tumors (9.5%) and were considered "undifferentiated small round cell sarcoma" (SRCS). Molecular biology results were non-informative in 33 SRCTs (16.5%) due to RNA degradation through inadequate fixation and/or decalcification. CONCLUSION: Our analysis of 200 SRCTs confirms the molecular heterogeneity of neoplasms with ESFT morphology and highlight that molecular studies with RT-PCR including new emerging gene fusion transcripts are mandatory for the diagnosis when EWSR1 FISH is negative or non-informative. The incidence of CIC-DUX4, BCOR-CCNB3 and CIC-FOX04 transcripts was relatively low. A small group of Ewing-like sarcomas or undifferentiated SRCS remains unclassified. Adopting appropriate tissue fixation and processing protocols is important to avoid degradation of fixed/embedded tissue when no frozen tumor is available.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/análise
Diagnóstico Diferencial
Sarcoma de Ewing/diagnóstico
Sarcoma de Ewing/genética
Sarcoma de Células Pequenas/diagnóstico
Sarcoma de Células Pequenas/genética
[Mh] Termos MeSH secundário: Proteínas de Ligação a Calmodulina/metabolismo
Seres Humanos
Hibridização in Situ Fluorescente/métodos
Proteínas de Fusão Oncogênicas/genética
Patologia Molecular/métodos
Proteína EWS de Ligação a RNA
Proteínas de Ligação a RNA/metabolismo
Translocação Genética/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (Calmodulin-Binding Proteins); 0 (EWSR1 protein, human); 0 (Oncogene Proteins, Fusion); 0 (RNA-Binding Protein EWS); 0 (RNA-Binding Proteins)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160516
[St] Status:MEDLINE


  7 / 166 MEDLINE  
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[PMID]:27079694
[Au] Autor:Gambarotti M; Benini S; Gamberi G; Cocchi S; Palmerini E; Sbaraglia M; Donati D; Picci P; Vanel D; Ferrari S; Righi A; Dei Tos AP
[Ad] Endereço:Department of Pathology, Rizzoli Institute, Bologna, Italy.
[Ti] Título:CIC-DUX4 fusion-positive round-cell sarcomas of soft tissue and bone: a single-institution morphological and molecular analysis of seven cases.
[So] Source:Histopathology;69(4):624-34, 2016 Oct.
[Is] ISSN:1365-2559
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIMS: Round-cell sarcomas lacking specific translocations represent a diagnostic challenge. The aim of this study was to describe seven cases of CIC-DUX4 fusion-positive sarcomas, including the first reported example arising primarily in bone. METHODS AND RESULTS: Patients ranged in age from 15 years to 44 years (median: 33 years). Six cases arose from the soft tissues, and one from the iliac bone. Morphologically, all cases showed an undifferentiated round-cell population with greater atypia and pleomorphism than Ewing sarcoma. Immunohistochemically, all tumours showed focal and weak positivity for CD99, and five of seven showed nuclear and/or cytoplasmic positivity for Wilms tumour 1. Five patients had lung metastases at presentation. All patients received chemotherapy according to Ewing sarcoma protocols. All but one patient (the one with a bone tumour) died of disease after a mean of 14.5 months from the diagnosis (range: 8-20 months). CONCLUSIONS: Our series confirms that CIC-DUX4 fusion-positive sarcomas are aggressive tumours with an adverse prognosis, and with clinical, histological and genetic differences from Ewing sarcoma. The best therapeutic approach needs to be investigated.
[Mh] Termos MeSH primário: Neoplasias Ósseas/genética
Proteínas de Fusão Oncogênicas/genética
Sarcoma de Células Pequenas/genética
Neoplasias de Tecidos Moles/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Biomarcadores Tumorais/análise
Neoplasias Ósseas/patologia
Feminino
Seres Humanos
Imuno-Histoquímica
Hibridização in Situ Fluorescente
Masculino
Reação em Cadeia da Polimerase
Sarcoma de Células Pequenas/patologia
Neoplasias de Tecidos Moles/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (CIC-DUX4 fusion protein, human); 0 (Oncogene Proteins, Fusion)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160416
[St] Status:MEDLINE
[do] DOI:10.1111/his.12985


  8 / 166 MEDLINE  
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[PMID]:26800124
[Au] Autor:Chebib I; Jo VY
[Ad] Endereço:Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
[Ti] Título:Round cell sarcoma with CIC-DUX4 gene fusion: Discussion of the distinctive cytomorphologic, immunohistochemical, and molecular features in the differential diagnosis of round cell tumors.
[So] Source:Cancer Cytopathol;124(5):350-61, 2016 May.
[Is] ISSN:1934-6638
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Undifferentiated round cell sarcomas are a heterogeneous group, and include tumors that resemble the Ewing sarcoma family. Although a subset defined by recurrent CIC-DUX4 gene fusion has been recently characterized, data regarding the cytomorphologic features are currently limited. Two recent fine-needle aspiration (FNA) cases prompted review of the spectrum of round cell tumors in the differential diagnosis to determine distinctive diagnostic features. METHODS: Two genetically confirmed FNA cases were identified. Cytomorphologic features were evaluated on FNA smears and hematoxylin and eosin-stained cell block and concurrent needle biopsy sections, and immunohistochemical studies performed on cell block and biopsy sections were reviewed. RESULTS: The 2 patients were a 24-year-old man with a posterior mediastinal mass and a 69-year-old woman with a gluteal mass. FNA smears were cellular with tumor cells present in large groups and singly dispersed. Tumor cells had large, round-to-ovoid, hyperchromatic nuclei with irregular membranes, frequent large nucleoli, and a moderate amount of vacuolated cytoplasm. Both cases demonstrated necrosis, and one case had prominent myxoid stroma. Immunohistochemistry demonstrated focal-to-multifocal CD99 positivity and diffuse nuclear staining for WT1; staining for cytokeratin, desmin, S-100, CD34, CD45, and TdT were negative. Fluorescence in situ hybridization demonstrated CIC-DUX4 fusion in both cases. CONCLUSIONS: CIC-DUX4 round cell sarcoma differs from Ewing sarcoma in that it has more atypical cytologic features and lacks the diffuse membranous CD99 staining pattern characteristic of Ewing sarcoma. The differential diagnosis is broad, and requires the judicious use of ancillary studies. Focal-to-multifocal CD99 immunoreactivity and diffuse nuclear WT1 positivity is characteristic of CIC-DUX4 sarcoma, and should prompt molecular testing. Cancer Cytopathol 2016;124:350-61. © 2016 American Cancer Society.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/genética
Neoplasias Ósseas/diagnóstico
Proteínas de Fusão Oncogênicas/genética
Sarcoma de Ewing/diagnóstico
Sarcoma de Células Pequenas/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Idoso
Biópsia por Agulha Fina
Neoplasias Ósseas/genética
Diagnóstico Diferencial
Feminino
Seres Humanos
Técnicas Imunoenzimáticas
Hibridização in Situ Fluorescente
Masculino
Sarcoma de Ewing/genética
Sarcoma de Células Pequenas/genética
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (CIC-DUX4 fusion protein, human); 0 (Oncogene Proteins, Fusion)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160123
[St] Status:MEDLINE
[do] DOI:10.1002/cncy.21685


  9 / 166 MEDLINE  
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[PMID]:26752546
[Au] Autor:Specht K; Zhang L; Sung YS; Nucci M; Dry S; Vaiyapuri S; Richter GH; Fletcher CD; Antonescu CR
[Ad] Endereço:*Department of Pathology, Technische Universität München ¶Children's Cancer Research Center and Department of Pediatrics, Klinikum rechts der Isar, Technische Universität München #Comprehensive Cancer Center Munich (CCCM), Munich, Germany †Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY ‡Department of Pathology, Brigham and Women's Hospital, Boston, MA §Department of Pathology, UCLA, Los Angeles, CA ∥Department of Pathology, Royal Orthopaedic, Birmingham, UK.
[Ti] Título:Novel BCOR-MAML3 and ZC3H7B-BCOR Gene Fusions in Undifferentiated Small Blue Round Cell Sarcomas.
[So] Source:Am J Surg Pathol;40(4):433-42, 2016 Apr.
[Is] ISSN:1532-0979
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Small blue round cell tumors (SBRCTs) are a heterogenous group of tumors that are difficult to diagnose because of overlapping morphologic, immunohistochemical, and clinical features. About two-thirds of EWSR1-negative SBRCTs are associated with CIC-DUX4-related fusions, whereas another small subset shows BCOR-CCNB3 X-chromosomal paracentric inversion. Applying paired-end RNA sequencing to an SBRCT index case of a 44-year-old man, we identified a novel BCOR-MAML3 chimeric fusion, which was validated by reverse transcription polymerase chain reaction and fluorescence in situ hybridization techniques. We then screened a total of 75 SBRCTs lacking EWSR1, FUS, SYT, CIC, and BCOR-CCNB3 abnormalities for BCOR break-apart probes by fluorescence in situ hybridization to detect potential recurrent BCOR gene rearrangements outside the typical X-chromosomal inversion. Indeed, 8/75 (11%) SBRCTs showed distinct BCOR gene rearrangements, with 2 cases each showing either a BCOR-MAML3 or the alternative ZC3H7B-BCOR fusion, whereas no fusion partner was detected in the remaining 4 cases. Gene expression of the BCOR-MAML3-positive index case showed a distinct transcriptional profile with upregulation of HOX-gene signature, compared with classic Ewing's sarcoma or CIC-DUX4-positive SBRCTs. The clinicopathologic features of the SBRCTs with alternative BCOR rearrangements were also compared with a group of BCOR-CCNB3 inversion-positive cases, combining 11 from our files with a meta-analysis of 42 published cases. The BCOR-CCNB3-positive tumors occurred preferentially in children and in bone, in contrast to alternative BCOR-rearranged SBRCTs, which presented in young adults, with a variable anatomic distribution. Furthermore, BCOR-rearranged tumors often displayed spindle cell areas, either well defined in intersecting fascicles or blending with the round cell component, which appears distinct from most other fusion-positive SBRCTs and shares histologic overlap with poorly differentiated synovial sarcoma.
[Mh] Termos MeSH primário: Proteínas de Ligação a DNA/genética
Proteínas Nucleares/genética
Proteínas de Fusão Oncogênicas/genética
Proteínas Proto-Oncogênicas/genética
Proteínas de Ligação a RNA/genética
Proteínas Repressoras/genética
Sarcoma de Células Pequenas/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Feminino
Perfilação da Expressão Gênica
Seres Humanos
Imuno-Histoquímica
Hibridização in Situ Fluorescente
Masculino
Meia-Idade
Análise de Sequência com Séries de Oligonucleotídeos
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (BCOR protein, human); 0 (DNA-Binding Proteins); 0 (MAML3 protein, human); 0 (Nuclear Proteins); 0 (Oncogene Proteins, Fusion); 0 (Proto-Oncogene Proteins); 0 (RNA-Binding Proteins); 0 (Repressor Proteins); 0 (Transcription Factors); 0 (ZC3H7B protein, human)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170403
[Lr] Data última revisão:
170403
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160112
[St] Status:MEDLINE
[do] DOI:10.1097/PAS.0000000000000591


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[PMID]:26386605
[Au] Autor:Tardío JC; Machado I; Navarro L; Idrovo F; Sanz-Ortega J; Pellín A; Llombart-Bosch A
[Ad] Endereço:Department of Pathology, Hospital Universitario de Fuenlabrada, 28942 Madrid, Spain. Electronic address: jtardio.hflr@salud.madrid.org.
[Ti] Título:Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association.
[So] Source:Pathol Res Pract;211(11):877-82, 2015 Nov.
[Is] ISSN:1618-0631
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Sarcoma with CIC-DUX4 gene fusion is emerging as the most prevalent subset of Ewing-like undifferentiated small round cell sarcomas with around 50 cases published. We report hereby the case of a 40-year-old male who presented a CIC-DUX4 sarcoma in deep soft tissues in his thigh. He had been diagnosed with neurofibromatosis type 1 at age 19 and over the years underwent resection of multiple neural neoplasms, including two malignant peripheral nerve sheath tumors with classical spindle-cell histopathology. The CIC-DUX4 sarcoma was treated with surgical resection, radiation and chemotherapy, but lung and brain metastases developed and the patient died from the disease 14 months after diagnosis. This is the first case of sarcoma with CIC-DUX4 gene fusion reported in a patient with NF1. Whether this association is coincidental or CIC-DUX4 sarcomas could be related to NF1 remains to be clarified. Study of alternative molecular alterations in EWSR1-negative undifferentiated small round cell sarcomas is clinically relevant, since CIC-DUX4 sarcomas seem to be a very aggressive subset with poor response to the presently used therapeutic regimens.
[Mh] Termos MeSH primário: Neurofibromatose 1/complicações
Proteínas de Fusão Oncogênicas/genética
Sarcoma de Células Pequenas/genética
Neoplasias de Tecidos Moles/genética
[Mh] Termos MeSH secundário: Adulto
Neoplasias Encefálicas/secundário
Evolução Fatal
Seres Humanos
Neoplasias Pulmonares/secundário
Masculino
Sarcoma de Células Pequenas/complicações
Sarcoma de Células Pequenas/patologia
Neoplasias de Tecidos Moles/complicações
Neoplasias de Tecidos Moles/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CIC-DUX4 fusion protein, human); 0 (Oncogene Proteins, Fusion)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:151027
[Lr] Data última revisão:
151027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150921
[St] Status:MEDLINE



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