Pitfalls in Portacath location using the landmark technique: case report

A 34 year old woman diagnosed with breast cancer and liver metastases underwent a left subclavian Portacath insertion. During the procedure, the clinical features and the findings of intra-operative investigations provided conflicting evidence of the catheter position. This report highlights the potential difficulties in establishing long-term central venous access, the limitations of common investigations and safety issues relating to the process of subclavian line insertion

Breast carcinoma and malignant melanoma metastasis within a single axillary lymph node

A 58 year old lady presented with a right breast cancer and a prior history of malignant melanoma excised from the right chest wall eight years previously. An abnormal axillary lymph node resected contained features of both metastatic breast carcinoma and malignant melanoma. Following oncologic breast cancer management, the patient is well with no evidence of recurrence at three years

Gene promoter hypermethylation in ductal lavage fluid from healthy BRCA gene mutation carriers and mutation-negative controls

INTRODUCTION: Female germline BRCA gene mutation carriers are at increased risk for developing breast cancer. The purpose of our study was to establish whether healthy BRCA mutation carriers demonstrate an increased frequency of aberrant gene promoter hypermethylation in ductal lavage (DL) fluid, compared with predictive genetic test negative controls, that might serve as a surrogate marker of BRCA1/2 mutation status and/or breast cancer risk. METHODS: The pattern of CpG island hypermethylation within the promoter region of a panel of four genes (RAR-β, HIN-1, Twist and Cyclin D2) was assessed by methylation-specific polymerase chain reaction using free DNA extracted from DL fluid. RESULTS: Fifty-one DL samples from 24 healthy women of known BRCA mutation status (7 BRCA1 mutation carriers, 12 BRCA2 mutation carriers and 5 controls) were available for methylation analysis. Eight of 19 (42.1%) BRCA mutation carriers were found to have at least one hypermethylated gene in the four-gene panel. Two BRCA mutation carriers, in whom aberrant methylation was found, also had duct epithelial cell atypia identified. No hypermethylation was found in DL samples from 5 negative controls(p = 0.13). CONCLUSION: We found substantial levels of aberrant methylation, with the use of a four-gene panel, in the fluid from the breasts of healthy BRCA mutation carriers compared with controls. Methylation analysis of free DNA in DL fluid may offer a useful surrogate marker for BRCA1/2 mutation status and/or breast cancer risk. Further studies are required for the evaluation of the specificity and predictive value of aberrant methylation in DL fluid for future breast cancer development in BRCA1/2 mutation carriers