Xu Mengfei, Wang Xiao, Lin Wanrun, Zhou Feng
Department of Pathology, The International Peace Maternal and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200030, China; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, 200030, China.
Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Int J Surg Case Rep. 2025 Sep 19;136:111952. doi: 10.1016/j.ijscr.2025.111952.
Primary solid pseudopapillary neoplasm originating in the ovary (SPN-O) is extremely rare, with only 15 reported cases in the English literature; of these, three harbor CTNNB1 mutations similar to pancreatic SPN. Here, we present a fourth SPN-O case with confirmed CTNNB1 mutation.
A 45-year-old woman presented with a 6 cm left ovarian mass. Gross examination revealed a predominantly cystic neoplasm. Microscopy demonstrated solid nests and pseudopapillary structures of uniform tumor cells with eosinophilic, foamy, or vacuolated cytoplasm. Mitotic activity and atypia were minimal. Ki-67 index was very low. Immunohistochemistry showed strong nuclear and cytoplasmic positivity for β-catenin and negativity for E-cadherin. Genetic analysis revealed a c.94G > T (p.D32Y) mutation in exon 3 of CTNNB1. Four years postoperatively, there was no recurrence or metastasis. These findings align with pancreatic SPN, supporting the theory of a shared Wnt/β-catenin oncogenic pathway.
The findings of this case reinforce the morphological, immunohistochemical, and molecular parallels between SPN-O and its pancreatic counterpart (SPN-P). The presence of a pathogenic CTNNB1 c.94G > T (p.D32Y) mutation-previously unreported in SPN-O-further supports the central role of Wnt/β-catenin dysregulation in tumorigenesis across anatomical sites. The absence of recurrence in this case aligns with most documented SPN-O outcomes, though metastatic potential underscores the need for long-term surveillance.
Primary ovarian SPN is an exceedingly rare tumor showing significant similarity to pancreatic SPN in morphology, immunophenotype, and molecular alterations.
起源于卵巢的原发性实性假乳头状肿瘤（SPN - O）极为罕见，英文文献中仅报道了15例；其中，3例携带与胰腺SPN相似的CTNNB1突变。在此，我们报告第四例确诊为CTNNB1突变的SPN - O病例。
一名45岁女性因左侧卵巢有一个6厘米的肿块前来就诊。大体检查显示为一个以囊性为主的肿瘤。显微镜检查显示肿瘤细胞呈实性巢状和假乳头状结构，细胞质嗜酸性、泡沫状或空泡状。有丝分裂活性和异型性极小。Ki - 67指数非常低。免疫组化显示β - 连环蛋白在细胞核和细胞质中呈强阳性，E - 钙黏蛋白呈阴性。基因分析显示CTNNB1外显子3存在c.94G > T（p.D32Y）突变。术后四年，无复发或转移。这些发现与胰腺SPN一致，支持了共享Wnt/β - 连环蛋白致癌途径的理论。
该病例的发现强化了SPN - O与其胰腺对应物（SPN - P）在形态学、免疫组化和分子水平上的相似性。致病性CTNNB1 c.94G > T（p.D32Y）突变的存在——此前在SPN - O中未报道——进一步支持了Wnt/β - 连环蛋白失调在不同解剖部位肿瘤发生中的核心作用。尽管转移潜能强调了长期监测的必要性，但该病例无复发与大多数已记录的SPN - O结果一致。
原发性卵巢SPN是一种极其罕见的肿瘤，在形态学、免疫表型和分子改变方面与胰腺SPN有显著相似性。
