Department of Biotechnology, University of Mumbai, Kalina, Mumbai, India.
Biol Reprod. 2021 Jan 4;104(1):58-70. doi: 10.1093/biolre/ioaa157.
There has been a significant annual increase in the number of cases of uterine leiomyomas or fibroids (UF) among women of all races and ages across the world. A fortune is usually spent by the healthcare sector for fibroid-related treatments and management. Molecular studies have established the higher mutational heterogeneity in UF as compared to normal myometrial cells. The contribution of DNA damage and defects in repair responses further increases the mutational burden on the cells. This in turn leads to genetic instability, associated with cancer risk and other adverse reproductive health outcomes. Such and many more growing bodies of literature have highlighted the genetic/molecular, biochemical and clinical aspects of UF; none the less there appear to be a lacuna bridging the bench to bed gap in addressing and preventing this disease. Presented here is an exhaustive review of not only the molecular mechanisms underlying the predisposition to the disease but also possible strategies to effectively diagnose, prevent, manage, and treat this disease.
全世界不同种族和年龄段的女性中，子宫平滑肌瘤或纤维瘤（UF）的病例数量每年都在显著增加。医疗保健部门通常会花费大量资金用于治疗和管理纤维瘤相关疾病。分子研究已经证实，UF 中的突变异质性高于正常的子宫平滑肌细胞。DNA 损伤和修复反应缺陷的贡献进一步增加了细胞的突变负担。这反过来又导致遗传不稳定性，与癌症风险和其他不良生殖健康结果相关。越来越多的文献强调了 UF 的遗传/分子、生化和临床方面；尽管如此，在解决和预防这种疾病方面，似乎仍然存在一个从实验室到临床的空白。本文不仅全面回顾了UF 易感性的分子机制，还探讨了有效诊断、预防、管理和治疗这种疾病的可能策略。
