Abstract
Leiomyomas, or fibroids, and leiomyosarcomas, or uterine sarcomas, are considered biologically unrelated tumors due to their cytogenetic and molecular disparities. However, both share morphological characteristics that can complicate their diagnosis via current clinical analyses. Therefore, newer approaches are needed for differential identification of these tumors. In this sense, application of next-generation sequencing enables detection of new mutations that, when coupled with machine learning bioinformatic tools, can advance our understanding of chromosomal instability. These approaches could allow for discovery of genetic variants and possible genomic markers for leiomyomas and leiomyosarcomas. This chapter provides the clinical and molecular context of leiomyomas and leiomyosarcomas, as well as their distinctive key features, not only to increase knowledge about tumorigenic processes but also to improve diagnosis and treatment of these myometrial tumors.
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