RESUMO
Colorectal cancer (CRC) incidence increases with age, and early onset of the disease is an indication of genetic predisposition, estimated to cause up to 30% of all cases. To identify genes associated with early-onset CRC, we investigated gene expression levels within a series of young patients with CRCs who are not known to carry any hereditary syndromes (n=24; mean 43 years at diagnosis), and compared this with a series of CRCs from patients diagnosed at an older age (n=17; mean 79 years). Two individual genes were found to be differentially expressed between the two groups, with statistical significance; CLC was higher and IFNAR1 was less expressed in early-onset CRCs. Furthermore, genes located at chromosome band 19q13 were found to be enriched significantly among the genes with higher expression in the early-onset samples, including CLC. An elevated immune content within the early-onset group was observed from the differentially expressed genes. By application of outlier statistics, H3F3A was identified as a top candidate gene for a subset of the early-onset CRCs. In conclusion, CLC and IFNAR1 were identified to be overall differentially expressed between early- and late-onset CRC, and are important in the development of early-onset CRC.
Assuntos
Neoplasias Colorretais/genética , Neoplasias Colorretais/imunologia , Regulação Neoplásica da Expressão Gênica , Glicoproteínas/genética , Lisofosfolipase/genética , Receptor de Interferon alfa e beta/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Análise por Conglomerados , Neoplasias Colorretais/epidemiologia , Perfilação da Expressão Gênica , Glicoproteínas/metabolismo , Humanos , Lisofosfolipase/metabolismo , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Receptor de Interferon alfa e beta/metabolismoRESUMO
A 36 year old woman, mother of a two year old child developed, in the course of one night, a tender mass in the upper medial quadrant of the left mamma. Treatment with antibiotics had no effect, and after a week the patient was admitted to hospital for drainage of the abscess and further examination. She had then developed reactive arthritis. Histological examination of a specimen from the mamma revealed lobular granulomatous mastitis. This connection has not been described before in the literature. Further examination showed no signs of infectious disease or sarcoidosis. Surgical drainage had only a minor effect on the breast-mass. The patient was treated with prednisone for six months, and after one year of observation the mass has disappeared, but the arthralgias persists.
