RESUMO
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.
Assuntos
Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Imuno-Histoquímica/métodos , Receptor ErbB-2/metabolismo , Feminino , HumanosRESUMO
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.
Assuntos
Biomarcadores Tumorais/genética , Cromossomos Humanos Par 18/genética , Proteínas de Fusão Oncogênica/genética , Patologia Molecular/métodos , Sarcoma Sinovial/genética , Neoplasias de Tecidos Moles/genética , Adolescente , Adulto , Idoso , Sequência de Bases , Biomarcadores Tumorais/análise , Cromossomos Humanos Par 18/química , Primers do DNA/química , Primers do DNA/genética , Feminino , Formaldeído , Expressão Gênica , Fusão Gênica , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Proteínas de Fusão Oncogênica/análise , Inclusão em Parafina , RNA Mensageiro/análise , RNA Mensageiro/biossíntese , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia , Fixação de Tecidos , Transcrição Gênica , Translocação GenéticaRESUMO
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.
Assuntos
Genes Neoplásicos , Hibridização in Situ Fluorescente , Melanoma/metabolismo , Melanoma/patologia , Proteínas de Neoplasias/biossíntese , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Valor Preditivo dos TestesRESUMO
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.
Assuntos
Regulação Neoplásica da Expressão Gênica , Lipossarcoma/metabolismo , Lipossarcoma/patologia , Proteínas de Fusão Oncogênica/biossíntese , RNA Mensageiro/biossíntese , RNA Neoplásico/biossíntese , Proteína EWS de Ligação a RNA/biossíntese , Proteína FUS de Ligação a RNA/biossíntese , Fator de Transcrição CHOP/biossíntese , Adulto , Idoso , Processamento Alternativo , Diagnóstico Diferencial , Feminino , Humanos , Lipossarcoma/diagnóstico , Masculino , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Neoplasias da Mama/genética , Amplificação de Genes , Hibridização in Situ Fluorescente/métodos , Kit de Reagentes para Diagnóstico , Receptor ErbB-2/genética , Neoplasias da Mama/patologia , Feminino , HumanosRESUMO
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.