Molecular and Genetic Landscape of Intravenous Leiomyomatosis: A Narrative Review

Abstract

Intravenous leiomyomatosis (IVL) is a rare benign smooth muscle tumor originating from the uterus and characterized by intravascular growth along the venous system, with potential extension to the inferior vena cava, right heart, or pulmonary arteries, leading to life-threatening cardiorespiratory complications. IVL carries a 10%–31% recurrence rate and exhibits quasimalignant biological behavior despite its benign histology. Surgical resection is the main treatment. Current studies on IVL remain limited with regard to molecular and genetic mechanisms. This review systematically summarizes the research progress on IVL from the perspectives of chromosomal aberrations, copy number variations, gene mutations, transcriptomics, proteomics, histopathology, and epigenetic alterations. In addition, IVL is compared with uterine leiomyoma, leiomyosarcoma, and benign metastasizing leiomyoma to clarify its similarities and differences. This review also discusses unresolved issues, including tumor origin, intravascular invasive mechanisms and recurrence biomarkers, as well as prospects for future directions. A comprehensive understanding of the genetic and molecular features of IVL will help elucidate its pathogenesis, improve differential diagnosis and clinical management, and provide a theoretical basis for targeted therapy.