Asunto(s)
Cardiomiopatía Hipertrófica/diagnóstico por imagen , Cardiomiopatía Hipertrófica/patología , Tejido Adiposo/diagnóstico por imagen , Tejido Adiposo/patología , Anciano , Cardiomiopatía Hipertrófica/diagnóstico , Diagnóstico Diferencial , Ecocardiografía Transesofágica , Femenino , Humanos , Miocardio/patologíaRESUMEN
Sequence alterations in the RET proto-oncogene are becoming increasingly important to clinical assessment of the malignant disease of the thyroid. A spectrum of mutations is necessary to establish comprehensive phenotype to genotype relationship relevant to diagnosis and therapy of thyroid malignancies. We aimed to append to the increasing database of these oncogenic lesions and, therefore, analyzed DNA from tumor tissue and constitutive DNA from a patient with thyroid carcinoma. Mutational screening and sequence characterization of the RET proto-oncogene was performed to include part of the intronic sequences. We report a germline sequence variant in DNA from the patient diagnosed with microfollicular thyroid carcinoma. The carcinoma presented not as fully developed medullar carcinoma (MTC) but as microfollicular carcinoma with tendency to evolve into MTC. We characterized the sequence variant located in the intron 10 of the RET oncogene as an A to G substitution denoted IVS10 + 4G. The described sequence alteration generates a chi-like sequence surrounded by several chi-like sequences with recombinational potential. Such alteration may be involved in the pathogenesis of the microfollicular carcinoma via genome destabilization through homologous recombination in the process of tumor progression. This result further substantiates the importance of the database correlating specific sequence variations in the RET gene with distinct disease phenotypes.
Asunto(s)
Adenocarcinoma Folicular/genética , Bases de Datos Genéticas , Proteínas Oncogénicas/genética , Mutación Puntual , Proteínas Tirosina Quinasas Receptoras/genética , Neoplasias de la Tiroides/genética , Adenocarcinoma Folicular/patología , Secuencia de Bases , Transformación Celular Neoplásica , Análisis Mutacional de ADN , ADN de Neoplasias , Femenino , Humanos , Intrones , Persona de Mediana Edad , Mitógenos , Datos de Secuencia Molecular , Proto-Oncogenes Mas , Proteínas Proto-Oncogénicas c-ret , Análisis de Secuencia de ADN , Neoplasias de la Tiroides/patologíaRESUMEN
Tumor phyllodes arise from stroma component of the terminal ductulo-lobular unit (TDLU). Stromal and epithelial proliferation are present in the same time. The stromal component grow th more intensive and dominante over the epithelial component. Clinically, macroscopically and microscopically tumor phyllode look like fibroadenoma which is more common lesion than tumor phyllodes. The differentiation between these two lession is important because the fibroadenoma almost never reccur bur the reccurence is ofthen in tumor phyllodes especially in incomplete excision. The fibroadenoma growth is never over 3 cm, but the growth of tumor phyllodes is sometimes over the 20 cm. The clinica differentiation in smaller lesions is very hard, macroscopical differentiation is a litle better, but the final diagnosis is microscopical. Biological behavior is not in the correlation with histological picture. Histologically, we can differentiate benign, borderline and malignant tumor phyllodes.
Asunto(s)
Neoplasias de la Mama/patología , Tumor Filoide/patología , Adolescente , Adulto , Diagnóstico Diferencial , Femenino , Fibroadenoma/patología , Humanos , Persona de Mediana EdadRESUMEN
Chronic non-suppurative destructive cholangitis, the so-called primary biliary cirrhosis, is characterised by changes, which occur in intrahepatic bile ducts in early stages and in hepatic parenchyma as the disease progresses. The disease gradually evolves into the full-blown picture of biliary cirrhosis. Primary biliary cirrhosis predominantly affects women between 35 and 60 years of age in all social classes and in all races. Our patient was a woman, old 78 years old who admitted for treatment of hypertrophic cardiomyopathy. During the routine laboratory exploration, signs of cholestasis were noted: higher values of alkaline phosphatase and gamma glutamyl transferase, combined with low level of platelets, probably of autoimmune origin. Hypercholesterolaemia (7.8 mmol/L) associated with normal values of triglycerides was observed. The main criterion for establishing the diagnosis of primary biliary cirrhosis was the titer of antimitochondrial antibodies in the serum, which was 1:640. At the same time, she had a urinary infection, caused by Escherichia coli, which confirmed possible relationship between primary biliary cirrhosis and occurrence of some Gramm negative bacteria, reported elsewhere. On the other hand, biopsy of the liver was just an auxiliary method, serving for the confirmation of diagnosis. Ursodeoxycholic acid was used as the main drug in the therapy of primary biliary cirrhosis. This case of primary biliary cirrhosis is a worth report because of the comorbidity with cardiac symptoms, which were covering symptoms of hepatic disorder.