Vol.:(0123456789) 1 3 Archives of Gynecology and Obstetrics https://doi.org/10.1007/s00404-020-05825-7 GYNECOLOGIC ONCOLOGY CYP24A1 expression analysis in uterine leiomyoma regarding MED12 mutation profle Elnaz Fazeli 1  · Samira Piltan 1  · Milad Gholami 2  · Mojdeh Akbari 1  · Zahra Falahati 3  · Fakhrolmolook Yassaee 4  · Hossein Sadeghi 5  · Reza Mirfakhraie 1,5 Received: 10 May 2020 / Accepted: 25 September 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020 Abstract Introduction Uterine leiomyoma (ULM) is the most common gynecological tumor. Recent studies have revealed the role of hypovitaminosis D as a major risk factor in the disease development. CYP24A, a mitochondrial enzyme that catalyzes the degradation of 1,25(OH) 2 D 3, is reported to be over-expressed in several human cancers. In this study, we aimed to investigate the expression level of CYP24A1 in leiomyoma samples compared with the adjacent tissues regarding the MED12 mutation profle. Materials and methods In the present study, 61 ULMs and adjacent tissue samples were collected from 51 women undergo- ing hysterectomy and myomectomy. The samples were Sanger sequenced for MED12 mutation, and the expression level of CYP24A1 was evaluated by quantitative real-time polymerase chain reaction (qRT-PCR). Results The results demonstrated that CYP24A1 gene was ectopically expressed in 18% of uterine leiomyoma tissues, although this expression was independent of the MED12 mutation profle. Conclusion The fndings of the present study support current evidence that dysregulation of vitamin D signaling and meta- bolic pathways may be involved in at least some subtypes of ULMs. Keywords Leiomyoma · Vitamin D · CYP24A1 · MED12 Introduction Uterine leiomyomas (ULMs), also referred to as myoma and fbroids, are monoclonal, benign tumors arise from the smooth muscle cells of the uterus [1]. ULMs are the most common gynecologic tumors and afect up to 70% of women at reproductive age [2]. Regardless of their benign nature, ULMs can cause signifcant morbidity during the reproduc- tive years. The most related complications include pelvic pain, abnormal uterine bleeding, anemia (due to the exces- sive menstrual blood loss), dysmenorrhea (painful menses), infertility, preterm labor, and recurrent pregnancy loss [1, 3]. Despite the high prevalence and the burden on the quality of patient life, there is no efective cure for ULMs. ULMs are currently the major indication for hysterectomy worldwide; however, it is not an option for women who desire later preg- nancy [4]. Although preserving treatment options also exist (including, uterine artery embolization, myoma resection, and high-intensity focused ultrasound); however, there is an urgent need for novel therapeutic alternatives. Elnaz Fazeli and Samira Piltan contributed equally to this work. * Fakhrolmolook Yassaee Dr.fyassaee1956@gmail.com * Hossein Sadeghi Hsadeqi86@gmail.com * Reza Mirfakhraie reza_mirfakhraie@yahoo.com 1 Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Koodakyar St, Velenjak Ave, Chamran highway, 19395-4719 Tehran, Iran 2 Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arak, Iran 3 Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Karaj, Iran 4 Department of Obstetrics and Gynecology, Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran 5 Molecular Genetics Department, Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran