Department of Pathology, University of Yamanashi, Yamanashi, Japan.
Department of Obstetrics and Gynecology, University of Yamanashi, Yamanashi, Japan.
Pathol Int. 2021 Mar;71(3):199-203. doi: 10.1111/pin.13065. Epub 2021 Jan 14.
Uterine osteosarcoma has been reported, but it is an extremely rare tumor with highly aggressive behavior and poor prognosis. The pathogenesis of uterine osteosarcoma is not fully understood. Herein, we report on a high-grade uterine sarcoma with focal osteosarcomatous differentiation that developed from a long-standing MED12-mutated leiomyoma. A 47-year-old nulligravida woman, with known uterine leiomyoma presented with abdominal pain and distention. Imaging analyses revealed a tumor with a large cystic area in the uterine corpus and multiple metastases in intrapelvic and paraaortic lymph nodes, left ovary and left lung. With a clinical diagnosis of uterine sarcoma the patient underwent abdominal total hysterectomy, bilateral salpingo-oophorectomy, partial omentectomy and removal of the left obturator lymph node. Despite postoperative chemotherapy and radiation therapy, the tumor progressed rapidly. She died 18 weeks after the surgery. Histopathologic examination identified a high-grade pleomorphic sarcoma in which focal osteoid production was observed. This high-grade sarcoma with focal osteosarcomatous differentiation was located within the uterine leiomyoma, and Sanger sequencing showed the identical MED12 L36R mutation in both the osteosarcomatous and leiomyomatous components supporting the shared origin of these two components. We, therefore, concluded that the high-grade sarcoma with osteosarcomatous differentiation arose from the transformation of the precedent leiomyoma.
已经有报道称子宫骨肉瘤的存在，但它是一种具有高度侵袭性行为和不良预后的极罕见肿瘤。子宫骨肉瘤的发病机制尚未完全阐明。在此，我们报告了一例由长期存在的 MED12 突变型平滑肌瘤发展而来的具有局灶性骨肉瘤分化的高级别子宫肉瘤。一名 47 岁的未产妇，患有已知的子宫平滑肌瘤，出现腹痛和腹胀。影像学分析显示子宫体部有一个大的囊性区域肿瘤，并在盆内和腹主动脉旁淋巴结、左侧卵巢和左肺多处转移。临床诊断为子宫肉瘤，患者接受了腹式全子宫切除术、双侧输卵管卵巢切除术、部分网膜切除术和左侧闭孔淋巴结切除术。尽管术后进行了化疗和放疗，但肿瘤仍迅速进展。她在手术后 18 周死亡。组织病理学检查发现一种高级别多形性肉瘤，其中观察到局灶性骨样组织形成。这种具有局灶性骨肉瘤分化的高级别肉瘤位于子宫平滑肌瘤内，Sanger 测序显示骨肉瘤和平滑肌瘤成分中均存在相同的 MED12 L36R 突变，支持这两个成分具有共同起源。因此，我们得出结论，具有骨肉瘤分化的高级别肉瘤是由先前的平滑肌瘤转化而来。
