RESUMEN
The t(X;18)(p11;q11) translocation has been shown to be the specific alteration for synovial sarcomas. The translocation leads to production of chimeric protein SYT/SSX by fusion of SYT and SSX genes involved. The expression analysis of SYT/SSX1 and SYT/SSX2 chimeric transcripts was performed in formalin-fixed soft tissue tumour specimens and the diagnostic validity of immunohistochemistry, FISH and RT-PCR methods was compared. The chimeric transcripts were detected in 12 from 16 synovial sarcomas: 7 SYT/SSX1 and 5 SYT/SSX2 fusion variants; by fluorescence hybridization in situ (FISH) the translocation was found in 13 from 16 sarcoma samples. As synovial sarcoma represents a diagnostically challenging group, genetic analysis of translocations and chimeric transcripts is an extremely useful confirmatory diagnostic tool providing higher sensitivity than immunohistochemistry markers do.
Asunto(s)
Biomarcadores de Tumor/genética , Cromosomas Humanos Par 18/genética , Proteínas de Fusión Oncogénica/genética , Patología Molecular/métodos , Sarcoma Sinovial/genética , Neoplasias de los Tejidos Blandos/genética , Adolescente , Adulto , Anciano , Secuencia de Bases , Biomarcadores de Tumor/análisis , Cromosomas Humanos Par 18/química , Cartilla de ADN/química , Cartilla de ADN/genética , Femenino , Formaldehído , Expresión Génica , Fusión Génica , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Proteínas de Fusión Oncogénica/análisis , Adhesión en Parafina , ARN Mensajero/análisis , ARN Mensajero/biosíntesis , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/patología , Neoplasias de los Tejidos Blandos/diagnóstico , Neoplasias de los Tejidos Blandos/patología , Fijación del Tejido , Transcripción Genética , Translocación GenéticaRESUMEN
The paper deals with the problems of HER2 testing in breast cancer. It describes the optimal immunohistochemical procedure and the principles of assessment of its results.
Asunto(s)
Neoplasias de la Mama/metabolismo , Neoplasias de la Mama/patología , Inmunohistoquímica/métodos , Receptor ErbB-2/metabolismo , Femenino , HumanosRESUMEN
Twenty-two surgical biopsy specimens from patients with pigmented skin neoplasms were studied. The patients were divided into 3 groups: 1) 11 patients who had a histological verified diagnosis of melanoma; 2) 10 patients who were diagnosed as having nevi with lentiginous melanocytic dysplasia; 3) 1 patient who had an unclear diagnosis of presumptively, nevus with melanocytic dysplasia. By applying fluorescence in situ hybridization (FISH) by means of a Vysis LSI RREBI/LSI MYB/LSI CCNDI/ CEP 6 probe, the authors employed to test a new probe designed for the genetic diagnosis of melanoma by FISH studies and confirmed in all the 22 patients the diagnosis previously made from the results of the routine histological study and the presumptive diagnosis in 1 patient. Furthermore, it should be noted that multiple genetic disorders were revealed in 3 patients (14% of the total sample and 30% of the sample of patients diagnosed as having nevus with lentiginous melanocytic dysplasia) in the absence of the morphological criteria of melanoma. The patients with such disorders belong to a risk group and need a more meticulous further follow-up.
Asunto(s)
Genes Relacionados con las Neoplasias , Hibridación Fluorescente in Situ , Melanoma/metabolismo , Melanoma/patología , Proteínas de Neoplasias/biosíntesis , Neoplasias Cutáneas/metabolismo , Neoplasias Cutáneas/patología , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Valor Predictivo de las PruebasRESUMEN
This paper presents the results of an analysis the chimeric genes FUS/CHOP and EWS/CHOP in patients diagnosed as having liposarcoma in order to make a differential diagnosis in both soft tissue tumors and various variants of liposarcoma. Liposarcomas were found in 5 of 7 cases of primary tumors: 4 chimeric transcripts of the FUS/CHOP type (5-2), a variant of alternative splicing of the FUS/CHOP type (5-2) with depletion in 14 p.n. anda rare variant of the EWS/CHOP type (7-2). Fluorescence in situ hybridization (FISH) confirmed translocations in the tumor samples with the chimeric genes being detected. Reverse transcription-polymerase chain reaction and FISH revealed no chimeric genes specific to myxoid sarcoma in a group of patients with other variants of liposarcoma. Thus, the findings support the strict specificity of the chimeric genes FUS/CHOP and EWS/CHOP for myxoid liposarcoma and the expression of these genes in most tumors of this type.
Asunto(s)
Regulación Neoplásica de la Expresión Génica , Liposarcoma/metabolismo , Liposarcoma/patología , Proteínas de Fusión Oncogénica/biosíntesis , ARN Mensajero/biosíntesis , ARN Neoplásico/biosíntesis , Proteína EWS de Unión a ARN/biosíntesis , Proteína FUS de Unión a ARN/biosíntesis , Factor de Transcripción CHOP/biosíntesis , Adulto , Anciano , Empalme Alternativo , Diagnóstico Diferencial , Femenino , Humanos , Liposarcoma/diagnóstico , Masculino , Persona de Mediana EdadRESUMEN
Forty invasive breast ductal carcinoma biopsy specimens were investigated. The techniques of fluorescence and chromogenic in situ hybridization were used to study HER-2/neu gene amplification and the concordance of these techniques was examined. The advantages and disadvantages of both techniques are shown. The optimum ranges of using these techniques in the determination of the herzept status of breast cancer are given.
Asunto(s)
Neoplasias de la Mama/genética , Amplificación de Genes , Hibridación Fluorescente in Situ/métodos , Juego de Reactivos para Diagnóstico , Receptor ErbB-2/genética , Neoplasias de la Mama/patología , Femenino , HumanosRESUMEN
The in situ RT-CPR technique has been first adapted in Russia to detect hepatitis C virus (HCV) RNA in the samples from patients with chronic hepatitis C (CHC) and hepatocellular carcinoma (HC). A total of 18 patients with CHC and HC were examined. Fourteen (78%) samples were ascertained to be positive. A positive reaction was found in 2 of 3 patients with HC. A label was revealed in individual hepatocytes without any regularity in the distribution along the tissue section. A reaction was negative in all samples from control groups. The label was observed in both the cytoplasm and the hepatocytic nuclei. There was no correlation between the degree of hepatic lesion, estimated after Knodelle, the results of the classical RT-CPR and the in situ RT-CPR techniques.