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1.
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (1): 45-51
in English | IMEMR | ID: emr-154347

ABSTRACT

Liver cancer is the fifth most common cancer in men and the seventh in women. Hepatocellular carcinoma [HCC] is responsible for significant morbidity and mortality in patients with liver cirrhosis and accounts for 90% of primary liver cancer. Synovial sarcoma X chromosome [SSX] genes belong to cancer testis antigens [CTA] family; expressed only in germ cell tumors. There have been some studies about the SSX genes expression in the HCC. To the best of our knowledge no reports included these genes expression in the Egyptian patients with HCC. This study aims to evaluate the SSX-1 and SSX-5 mRNA expression in tumor cells circulating in the peripheral blood [PB] of a cohort of Egyptian patients with HCC and to find out any possible associations between these genes expression and different clinical/laboratory parameters. This study included 100 subjects; 52 HCC cases, 25 with post viral hepatitis liver cirrhosis and 23 apparently healthy controls. Expression of SSX-1 and SSX-5 mRNA in PB was tested by reverse transcription polymerase chain reaction [RT-PCR] SSX-1 and SSX-5 mRNA were expressed in 40.4% and 36.5% of the HCC patients, respectively. SSX-1 and/or SSX-5 were not detected in healthy controls or cirrhotic patients. Neither SSX-1 nor SSX-5 expression showed an association with Alfa-Fetoprotein [AFP] levels, tumor size, tumor differentiation, hepatitis B infection and Bilharziasis [P > 0.05]. SSX-1 and SSX-5 mRNA are specifically expressed in tumor cells circulating in PB of HCC patients and thus could be used as easy access, simple method molecular markers for early diagnosis of HCC patients in Egypt


Subject(s)
Humans , Male , Female , Sarcoma, Synovial/genetics , Liver Cirrhosis , Liver Function Tests , Polymerase Chain Reaction
2.
Rev. chil. enferm. respir ; 27(3): 203-207, set. 2011. ilus
Article in Spanish | LILACS | ID: lil-608767

ABSTRACT

Introduction: Synovial sarcoma is an aggressive neoplasm described in several locations but is uncommon in the lung. Method: We report a case of biphasic synovial sarcoma of the lung stressing the histologic and immunohistochemical characteristics, genetics and differential diagnosis. Results: a biphasic pattern and SYT-SSX translocation were demostrated. Comments: histology and immuno-histochemistry lead to diagnosis most of the times but the typical translocation is definitive.


Introducción: El sarcoma sinovial es una neoplasia agresiva que aun habiendo sido descrita en múltiples localizaciones, resulta sumamente infrecuente en localización pulmonar. Método: Presentamos un caso de sarcoma sinovial bifásico de localización pulmonar haciendo hincapié en sus características histológicas inmunohistoquímicas y genéticas así como en su diagnóstico diferencial. Resultados: La neoplasia mostraba un patrón bifásico bien caracterizado. El estudio genético demostró la translocación SYT-SSX. Comentarios: Si bien la histología y la inmunohistoquímica permiten en la mayoría de los casos el diagnóstico del sarcoma sinovial, es la translocación genética la que define verdaderamente esta entidad.


Subject(s)
Humans , Male , Middle Aged , Lung Neoplasms/diagnosis , Lung Neoplasms/genetics , Lung Neoplasms/pathology , Sarcoma, Synovial/diagnosis , Sarcoma, Synovial/genetics , Sarcoma, Synovial/pathology , Diagnosis, Differential , Immunohistochemistry , Oncogene Proteins, Fusion , Polymerase Chain Reaction , Translocation, Genetic
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