Analysis of the Genomic Profile in Disseminated Peritoneal Leiomyomatosis: Three cases

Abstract

Disseminated peritoneal leiomyomatosis (DPL) is a rare disease entity belonging to the category of smooth muscle tumours of uncertain growth. It is characterized by proliferation of multiple smooth muscle nodules in the peritoneal cavity mimicking a malignant process such as peritoneal carcinomatosis but which when studied histologically proves to be of benign nature. Its origin is still unknown. Genomic analysis of DPL cases is of interest in order to understand its pathogenesis and subsequent course, but there are few extant studies. In this article we set out the genomic profiles, analysed by array-based comparative genomic hybridization (array-CGH), of peritoneal and uterine lesions in two cases of DPL detected after previous uterine morcellation for fibroids, as well as a "sporadic" case of DPL. Array-CGH findings revealed in all three cases a flat genomic profile. It is not possible to establish a genetic lineage between two lesions on the basis of the genomic profiles alone, owing to the absence of an unbalanced rearrangement. CGH is not conclusive enough in this type of disorder. Analysis of the exome could provide us with fresh information, not least about driving events in the cancerogenesis of these tumours.