"Lipoblastoma" has a nice ring to it

Lipoblastomas are benign tumors composed of fat cells of varying degrees of maturation, from lipoblasts to mature adipocytes. These tumors typically affect young children under the age of three. Upregulation of the pleomorphic adenoma gene 1 (PLAG1), located on 8q12.1, is the primary driving force for lipoblastoma development. The most common mechanisms for PLAG1 upregulation are rearrangements of 8q11-13 and polysomy 8. We present a unique case of lipoblastoma in a three-year-old boy with a ring chromosome 8. To the best of our knowledge, this cytogenetic finding has only been described three times in the literature. We present this case to further document this rare cytogenetic abnormality in lipoblastomas and hypothesize that the formation of a ring 8 chromosome results in a promoter swapping event.