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1.
Pediatr Dev Pathol ; 23(5): 345-351, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32364435

RESUMO

INTRODUCTION: The purpose of this study was to establish a reliable panel of antibodies for immunohistochemical corroboration of a diagnosis of clear cell sarcoma of kidney (CCSK), taking into consideration the various genotypic subsets of CCSK. METHODS: We conducted full genotypic analysis for evidence of YWHAE-NUTM2, BCOR internal tandem duplication (ITD), and BCOR-CCNB3 in 68 archival cases of CCSK and then immunostained all cases for CCND1, TLE1, and BCOR along with 63 control samples representing tumor types that may enter into the differential diagnosis of CCSK, including 7 congenital mesoblastic nephromas, 2 desmoplastic small round cell tumors, 13 malignant rhabdoid tumors, 9 Ewing sarcomas/primitive neuroectodermal tumor, 5 synovial sarcomas, and 27 Wilms' tumors. RESULTS: Molecular assays showed that 54 CCSKs harbored a BCOR-ITD, 1 case expressed a YWHAE-NUTM2 fusion transcript while none expressed the BCOR-CCNB3 fusion. The remaining 13 CCSKs were designated "triple-negative" based on the molecular findings. CCND1 showed positive immunoreactivity across all subgroups. TLE1 was positive in 94% of cases, including 1 YWHAE-NUTM2 fusion-positive case. Three BCOR-ITD-positive tumors were TLE1-negative. BCOR immunostaining was most variable among subgroups, with triple-negative tumors showing the weakest staining. In all, 10/68 (15%) tumors did not stain for BCOR, of which 4 were triple-negative (4/13 = 31%) and 6 were BCOR-ITD-positive (6/54 = 11%). The single YWHAE-NUTM2-positive tumor showed strong staining for all 3 markers. No single case was negative for all 3 stains; however, 3 cases showed no reactivity for either BCOR or TLE1 of which 1 was triple-negative and 2 BCOR-ITD-positive. CONCLUSION: Having completed the first comprehensive evaluation of immunostaining of 68 fully genotyped CCSK tumors, we show herein that there is a rationale for the use of a small panel of antibodies to assist in the diagnosis of CCSK regardless of genotype, and we demonstrate that in combination CCND1, TLE1, and BCOR are compelling markers in aiding CCSK diagnosis.


Assuntos
Biomarcadores Tumorais/genética , Estudos de Associação Genética , Neoplasias Renais/diagnóstico , Sarcoma de Células Claras/diagnóstico , Biomarcadores Tumorais/imunologia , Biomarcadores Tumorais/metabolismo , Fusão Gênica , Técnicas de Genotipagem , Humanos , Imuno-Histoquímica , Imunofenotipagem , Neoplasias Renais/genética , Neoplasias Renais/imunologia , Neoplasias Renais/metabolismo , Sarcoma de Células Claras/genética , Sarcoma de Células Claras/imunologia , Sarcoma de Células Claras/metabolismo , Sequências de Repetição em Tandem
2.
J Mol Diagn ; 13(3): 289-96, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21458381

RESUMO

Osteosarcoma is a genetically complex malignancy, predominantly afflicting the adolescent population and associated still with relatively poor long-term outcomes. Although there has been some improvement in the understanding of osteosarcoma biology, this has not yet translated particularly well into therapeutic advances. By using a whole-genome tiling path array for comparative genomic hybridization analysis, we sought to evaluate DNA copy number changes in 22 osteosarcoma tumor samples. Regions of most frequent gains or losses generated by Genomic Identification of Significant Targets in Cancer analysis were evaluated for genes of interest. Correlation of the copy number data with preexisting expression data for these genes yielded not only targets known to be important in osteosarcoma but also novel targets, notably cyclin E1. Fluorescence in situ hybridization and immunohistochemical analysis confirmed the findings. Overexpression of cyclin E1 has potential prognostic and therapeutic implications that are discussed herein.


Assuntos
Ciclina E/genética , Amplificação de Genes , Regulação Neoplásica da Expressão Gênica , Proteínas Oncogênicas/genética , Osteossarcoma/genética , Osteossarcoma/fisiopatologia , Animais , Ciclo Celular/genética , Linhagem Celular Tumoral , Análise por Conglomerados , Hibridização Genômica Comparativa , Dosagem de Genes , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Hibridização in Situ Fluorescente , Camundongos , Osteossarcoma/patologia
3.
Pediatr Dev Pathol ; 14(3): 248-51, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21054160

RESUMO

The 2004 World Health Organization classification includes the new entity "neuroblastoma-associated renal cell carcinoma." The pathogenetic link between these entities is unknown as yet. The patient reported herein developed renal cell carcinoma after anaplastic embryonal rhabdomyosarcoma, a previously unknown association. The 2nd malignancy developed very soon after the 1st one, prompting concern for inherent cancer predisposition rather than a therapy-induced 2nd malignancy. A variety of features raised suspicion for Tp53 mutation, and indeed a pathogenic germline Tp53 mutation was identified in this child, despite a negative family history for Li-Fraumeni syndrome. Consideration of underlying predisposition is advocated in the context of rapid evolution of 2nd childhood malignancy.


Assuntos
Neoplasias Abdominais/genética , Carcinoma de Células Renais/genética , Neoplasias Renais/genética , Mutação , Segunda Neoplasia Primária/genética , Rabdomiossarcoma Embrionário/genética , Proteína Supressora de Tumor p53/genética , Neoplasias Abdominais/patologia , Neoplasias Abdominais/terapia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/cirurgia , Pré-Escolar , Terapia Combinada , Feminino , Humanos , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Segunda Neoplasia Primária/patologia , Radioterapia Conformacional , Rabdomiossarcoma Embrionário/patologia , Rabdomiossarcoma Embrionário/terapia
4.
Pediatr Dev Pathol ; 7(6): 595-600, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15630527

RESUMO

We investigated whether it is possible to accelerate the examination of a pediatric brain at autopsy and thus facilitate its return to the body before a funeral without compromising the quality of the neuropathologic examination. Accelerated fixation and next-day dissection of the brain was performed in selected cases over a 2-year period by using a microwave histologic tissue processor (MicroMed T/T MEGA, Milestone, Sorisole, Italy). Direct comparison of the histologic appearance and immunohistochemical reactivity of 2 cases, 1 fixed by conventional methods and 1 fixed with the accelerated method, was performed in a blinded fashion by a specialist neuropathologist. Examination of rapidly fixed brain by conventional thin coronal sections was readily achieved. There was no appreciable difference between tissue sections stained with hematoxylin and eosin and prepared from conventional formalin-fixed cortical and cerebellar brain tissue and that fixed by rapid heat acceleration. Immunocytochemical studies were not adversely affected by the accelerated heat-fixation process of tissue. Heat-accelerated fixation is a potential method of speeding up the examination of the brain at autopsy without unduly compromising the quality of the neuropathologic examination.


Assuntos
Autopsia , Encéfalo/patologia , Dissecação , Temperatura Alta , Fixação de Tecidos/métodos , Adolescente , Autopsia/métodos , Encéfalo/metabolismo , Criança , Pré-Escolar , Dissecação/métodos , Humanos , Imuno-Histoquímica , Lactente , Recém-Nascido , Micro-Ondas , Fatores de Tempo
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