Recurring Translocations in Barrett’s Esophageal Adenocarcinoma

Barrett’s esophagus (BE) is a premalignant metaplasia in patients with chronic gastroesophageal reflux disease (GERD). BE can progress to esophageal adenocarcinoma (EA) with less than 15% 5-year survival. Chromosomal aneuploidy, deletions, and duplication are early events in BE progression to EA, but reliable diagnostic assays to detect chromosomal markers in premalignant stages of EA arising from BE are lacking. Previously, we investigated chromosomal changes in an in vitro model of acid and bile exposure-induced Barrett’s epithelial carcinogenesis (BEC). In addition to detecting changes already known to occur in BE and EA, we also reported a novel recurring chromosomal translocation t(10:16) in the BE cells at an earlier time point before they undergo malignant transformation. In this study, we refine the chromosomal event with the help of fluorescence microscopy techniques as a three-way translocation between chromosomes 2, 10, and 16, t(2:10;16) (p22;q22;q22). We also designed an exclusive fluorescent in situ hybridization for esophageal adenocarcinoma (FISH-EA) assay that detects these chromosomal breakpoints and fusions. We validate the feasibility of the FISH-EA assay to objectively detect these chromosome events in primary tissues by confirming the presence of one of the fusions in paraffin-embedded formalin-fixed human EA tumors. Clinical validation in a larger cohort of BE progressors and non-progressors will confirm the specificity and sensitivity of the FISH-EA assay in identifying malignant potential in the early stages of EA

A Case Report of Aggressive Angiomyxoma in Pregnancy: Do Hormones Play a Role?

Aggressive angiomyxoma is a rare, locally invasive tumor that generally affects the perineum and pelvis of reproductive age females. Aggressive angiomyxoma is often misdiagnosed, resulting in the delay of the treatment. Case reports show increased growth of the tumor during pregnancy, thus suggesting a hormonal dependency. We report this rare condition in a 29-year-old primigravid female with a growing mass on the right labium majus at 20 weeks’ gestation. The patient also developed a smaller mass on the left labium majus at 37 weeks’ gestation. The patient underwent a primary cesarean section with resection of the right labial mass, with a final diagnosis of aggressive angiomyxoma. The lesion on her left labium majus resolved spontaneously postpartum. This case report supports a hormonal involvement in this tumor