Abstract
OBJECTIVE: Benign Metastasizing Leiomyoma (BML) and Intravenous Leiomyomatosis (IVL) are rare uterine-derived smooth muscle tumors. Although both exhibit histologically benign and similar features, they demonstrate aggressive biological behaviors. Currently, molecular genetic studies on BML and IVL are limited, and no comparative research on their genetic variations has been reported. To investigate the genetic basis underlying their shared aggressive phenotypes, this study employs whole-exome sequencing (WES) to conduct a molecular genetic comparison between the two entities. The aim is to explore potential genetic variations that may reveal common pathological pathways shared by these diseases, thereby enhancing our understanding of the molecular mechanisms driving their invasiveness. METHODS: A pulmonary BML case and an IVL case underwent analysis, with paraffin-embedded tumor tissues subjected to WES. Mutant genes were screened and comparatively analyzed between the two cases. RESULTS: WES revealed 15 single nucleotide polymorphism (SNP) genetic mutations in the BML case: HFM1, SCN10A, HEXA, SLC7A14, TEP1, KCNJ12, KCNJ18, DNAJB12, ACOX3, ABCC2, RASA1, ALOX15B, TCIRG1, COL5A3, and MCCC2. In the IVL case, 18 mutant genes were observed: CADPS2, GPSM2, REEP4, KCNJ12, KCNJ18, DUSP15, PDE11A, TCIRG1, KLHL33, PAH, MYO18A, FBLN7, ATP7B, MYO7A, MLKL, LRP10, KRT15, and HEPH. The mutations were consistent across both samples in this case. Shared mutations in BML and IVL cases included TCIRG1, KCNJ12, and KCNJ18. CONCLUSION: BML and IVL exhibit distinct gene mutations in tumor development, with certain shared mutations.