Li Jiezhen, Huang Haijian, Zeng Qiang, Chen Xin, Chen Lingfeng
Provincial Clinical Medical College of Fujian Medical University, Department of Pathology, Fujian Provincial Hospital, Fuzhou, China.
First Affiliated Hospital of Fujian Medical University, Department of Pathology, Fuzhou, China.
Front Oncol. 2024 Aug 16;14:1436854. doi: 10.3389/fonc.2024.1436854. eCollection 2024.
Ovarian mucinous tumor with a mural nodule is a rare and special type of ovarian surface epithelial-stromal tumor. Mural nodules are morphologically classified into three types: sarcoma-like, anaplastic carcinomatous, and true sarcomatous nodules. Ovarian mucinous tumors with true sarcomatous mural nodules are rare and challenging to diagnose, with only 10 cases reported worldwide. Currently, liposarcoma mural nodules remain unreported.
A 91-year-old woman was hospitalized for postmenopausal vaginal bleeding for 3 weeks. Imaging revealed a large cystic mass (20.0 cm × 17.7 cm × 12.8 cm) on the right ovary. The mass was multilocular cystic, with a mural nodule (1.4 cm × 1.2 cm × 1.0 cm) in the focal cyst wall. Based on histological morphology, immunohistochemical staining, and MDM2/CDK4 fluorescence hybridization testing, the diagnosis was ovarian mucinous cystadenoma with a mural nodule of well-differentiated liposarcoma. To the best of our knowledge, this has never been reported before. High-throughput sequencing identified mutations in the ovarian mucinous cystadenoma. However, the liposarcoma mural nodule did not exhibit mutations but displayed copy number amplifications of and , as well as a frameshift mutation in exon 13 of (p. A627Gfs*8).
This case broadens the morphological spectrum of mural nodules in ovarian mucinous tumors, deepening our knowledge of this rare morphology. Meanwhile, through high-throughput sequencing, we found no overlapping genetic evidence between the liposarcoma mural nodule and associated ovarian mucinous cystadenoma.
伴有壁结节的卵巢黏液性肿瘤是一种罕见且特殊的卵巢表面上皮-间质肿瘤。壁结节在形态学上分为三种类型:肉瘤样、间变性癌性和真性肉瘤性结节。伴有真性肉瘤性壁结节的卵巢黏液性肿瘤罕见且诊断具有挑战性,全球仅报道过10例。目前,脂肪肉瘤壁结节尚未见报道。
一名91岁女性因绝经后阴道出血3周入院。影像学检查显示右卵巢有一个大的囊性肿物(20.0 cm×17.7 cm×12.8 cm)。该肿物为多房囊性,在局灶性囊壁上有一个壁结节(1.4 cm×1.2 cm×1.0 cm)。基于组织形态学、免疫组化染色及MDM2/CDK4荧光杂交检测,诊断为伴有高分化脂肪肉瘤壁结节的卵巢黏液性囊腺瘤。据我们所知,此前从未有过此类报道。高通量测序鉴定出卵巢黏液性囊腺瘤存在突变。然而,脂肪肉瘤壁结节未显示突变,但存在 和 的拷贝数扩增,以及 外显子13的移码突变(p.A627Gfs*8)。
该病例拓宽了卵巢黏液性肿瘤壁结节的形态学谱,加深了我们对这种罕见形态的认识。同时,通过高通量测序,我们发现脂肪肉瘤壁结节与相关卵巢黏液性囊腺瘤之间没有重叠的遗传证据。