Li Jin, Zeng Jiafei, Luo Shuai, Wang Jinjing
Department of Pathology, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, People's Republic of China.
Department of Pathology, Tongren People's Hospital, Tongren, Guizhou, People's Republic of China.
Discov Oncol. 2025 May 28;16(1):939. doi: 10.1007/s12672-025-02551-x.
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.
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.
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.
BML and IVL exhibit distinct gene mutations in tumor development, with certain shared mutations.
良性转移性平滑肌瘤（BML）和静脉内平滑肌瘤病（IVL）是罕见的源自子宫的平滑肌肿瘤。尽管两者在组织学上均表现为良性且具有相似特征，但它们表现出侵袭性生物学行为。目前，关于BML和IVL的分子遗传学研究有限，且尚未有关于它们基因变异的比较研究报道。为了探究其共同侵袭性表型背后的遗传基础，本研究采用全外显子组测序（WES）对这两种实体进行分子遗传学比较。目的是探索可能揭示这些疾病共同病理途径的潜在基因变异，从而加深我们对驱动其侵袭性的分子机制的理解。
对1例肺部BML病例和1例IVL病例进行分析，对石蜡包埋的肿瘤组织进行WES。筛选并比较分析两例病例中的突变基因。
WES在BML病例中揭示了15个单核苷酸多态性（SNP）基因突变：HFM1、SCN10A、HEXA、SLC7A14、TEP1、KCNJ12、KCNJ18、DNAJB12、ACOX3、ABCC2、RASA1、ALOX15B、TCIRG1、COL5A3和MCCC2。在IVL病例中，观察到18个突变基因：CADPS2、GPSM2、REEP4、KCNJ12、KCNJ18、DUSP15、PDE11A、TCIRG1、KLHL33、PAH、MYO18A、FBLN7、ATP7B、MYO7A、MLKL、LRP10、KRT15和HEPH。在该病例的两个样本中，突变情况一致。BML和IVL病例中的共同突变包括TCIRG1、KCNJ12和KCNJ18。
BML和IVL在肿瘤发生发展中表现出不同的基因突变，但存在某些共同突变。
