Implantes de carcinoma canalicular infiltrante en trayecto de biopsia estereotáctica con mamótomo

La biopsia estereotáctica con mamótomo constituye una de las herramientas diagnósticas empleadas en la evaluación de las lesiones no palpables de la glándula mamaria. Se ha reportado como problema potencial el implante de células tumorales en el trayecto de la aguja, complicación descrita para otros tumores, pero con incidencia desconocida en el caso del cáncer de seno. A continuación se presenta un reporte de caso de implantes tumorales documentados en el trayecto de la aguja de biopsia y una revisión de la literatura.152-156Stereotactic breast biopsy with the mammotome device has become one of the available strategies for the evaluation of nonpalpable breast lesions. There are some reports of tumoral cells seeding along the biopsy tract. In this report, we present a case with pathologically documented tumoral seeding through the needle traject

High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia

Q2Q1225-232In South America, a high proportion of the population is of Hispanic origin with an important representation in Colombia. Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we conducted the first study of 53 breast/ovarian cancer families from this country. Comprehensive BRCA mutation screening was performed using a range of techniques, including DHPLC, SSCP, and PTT, followed by DNA sequencing analysis. Thirteen deleterious germline mutations (24.5%) were identified in 53 families, comprising eight in BRCA1 and five in BRCA2. The two recurrent BRCA1 mutations, 3450 delCAAG and A1708E, accounted for 100% of all BRCA1 mutations identified in this cohort and the recurrent 3034 delACAA BRCA2 mutation for 40% of all BRCA2 mutations. Haplotype analyses suggested that each of these mutations has arisen from a common ancestor. The prevalence of BRCA1 or BRCA2 mutations was 50% in multiple case breast cancer families, and was 33% for the breast-ovarian cancer families. Our findings show that BRCA mutations account for a substantial proportion of hereditary breast/ovarian cancer in Colombia. The spectrum of mutations differed completely to that previously reported in Hispanic families of predominantly Mexican origin from Southern California [1] suggesting that specific genetic risk assessment strategies for the different Hispanic populations in South America and in the United States need to be developed