Miyazaki Yumiko, Yamaguchi Aina, Nanbu Hitomi, Shinagawa Akiko, Fukushima Mana, Orisaka Makoto, Yoshida Yoshio
Department of Obstetrics and Gynecology, University of Fukui, Fukui, Japan.
Department of Diagnostic/Surgical Pathology, University of Fukui, Fukui, Japan.
Case Rep Oncol. 2024 Oct 25;17(1):1229-1238. doi: 10.1159/000541823. eCollection 2024 Jan-Dec.
Uterine adenosarcoma (UA) is a rare malignant mesenchymal neoplasm characterized by benign epithelial and malignant stromal components. Comprehensive genomic profiling has identified a high frequency of murine double-minute type 2 (MDM2) and cyclin-dependent kinase 4 (CDK4) amplification in UA. However, the significance of these genetic alterations in tumor biology remains poorly understood. This report presents a case of UA with immunohistochemically positive MDM2 and CDK4 expression.
The patient was a 72-year-old woman with a history of genital bleeding. Magnetic resonance imaging revealed an 11 × 5 × 7 cm mass in the endometrial cavity, extending into the uterine cervix. Biopsy of the tumor showed no malignant findings. The patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy. Microscopically, the tumor consisted of benign glandular epithelial components and low-grade sarcoma. The diagnosis was UA stage IA, pT1aNxM0. No sarcomatous overgrowth and no myometrial or lymphovascular invasions were observed. Immunohistochemistry confirmed MDM2 and CDK4 expression in the mesenchymal tissue. No recurrence was observed 12 months post-surgery.
The pathological diagnosis of UA was based on histomorphological features. This study demonstrates that immunohistochemistry for MDM2 and CDK4 can help elucidate the molecular genetic features of UA. Further studies are needed to correlate the expression of these genes with the biological behavior of UA.
子宫腺肉瘤（UA）是一种罕见的恶性间叶性肿瘤，其特征为良性上皮成分和恶性间质成分。综合基因组分析已确定UA中鼠双微体2型（MDM2）和细胞周期蛋白依赖性激酶4（CDK4）扩增的频率较高。然而，这些基因改变在肿瘤生物学中的意义仍知之甚少。本报告介绍了一例免疫组化显示MDM2和CDK4表达阳性的UA病例。
患者为一名72岁女性，有生殖器出血史。磁共振成像显示子宫内膜腔内有一个11×5×7 cm的肿块，延伸至子宫颈。肿瘤活检未发现恶性病变。患者接受了全腹子宫切除术和双侧输卵管卵巢切除术。显微镜下，肿瘤由良性腺上皮成分和低级别肉瘤组成。诊断为UA IA期，pT1aNxM0。未观察到肉瘤过度生长，也未观察到肌层或淋巴管侵犯。免疫组化证实间叶组织中有MDM2和CDK4表达。术后12个月未观察到复发。
UA的病理诊断基于组织形态学特征。本研究表明，MDM2和CDK4的免疫组化有助于阐明UA的分子遗传学特征。需要进一步研究将这些基因的表达与UA的生物学行为相关联。
