RESUMO
BACKGROUND AND AIMS: Patients with ulcerative colitis (UC) and Crohn's disease (CD) have a high risk for colorectal cancer (CRC). To understand the molecular basis of colitis-associated CRC, we analyzed alterations in TP53, APC, K-ras, and DCC genes in the non-dysplastic UC and CD colon. MATERIALS AND METHODS: Endoscopic biopsies were collected from six predefined colon sites of 35 UC and 12 CD patients for DNA extraction and genetic analysis. RESULTS: A mutation was found in codon 1141 of the APC gene of two CD patients, being somatic in one and germinative in the other. The mutation seen in both patients was a base exchange of thymine for cytosine, resulting in an exchange of leucine for serine. We did not detect any mutations in the other samples analyzed. CONCLUSIONS: Mutations in APC gene may occur in the non-dysplastic CD mucosa of patients with disease for more than 10 years. The follow-up of these patients will show the likelihood of mutant APC progressing to CRC in CD. Further analysis will be required for evaluating the impact of these findings in the context of cancer surveillance in inflammatory bowel disease.
Assuntos
Proteína da Polipose Adenomatosa do Colo/genética , Doenças Inflamatórias Intestinais/genética , Mucosa Intestinal/patologia , Mutação/genética , Proteínas Proto-Oncogênicas/genética , Receptores de Superfície Celular/genética , Proteína Supressora de Tumor p53/genética , Proteínas Supressoras de Tumor/genética , Proteínas ras/genética , Adolescente , Adulto , Idoso , Sequência de Bases , Códon/genética , Colite Ulcerativa/genética , Colite Ulcerativa/patologia , Doença de Crohn/genética , Doença de Crohn/patologia , Receptor DCC , Análise Mutacional de DNA , Feminino , Humanos , Mucosa Intestinal/metabolismo , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação Puntual/genética , Proteínas Proto-Oncogênicas p21(ras) , Adulto JovemRESUMO
We report a case of human pulmonary dirofilariasis in a female patient 45-years-old, derived from Rio de Janeiro, Brazil. The chest radiologic finding consisted of single pulmonary nodule located on the left lower lobe that simulated lung tumor. Human pulmonary dirofilariasis might be investigated in nodules that are not malignants and require conclusive diagnosis.
