β-catenin mutation in ovarian solid pseudopapillary neoplasm
β-catenin mutation in ovarian solid pseudopapillary neoplasm
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DOI：
10.1111/pin.12194
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发表时间：
2014-09-01
影响因子：
2.2
通讯作者：
Ito, Masafumi
中科院分区：
文献类型：
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作者：
Kominami, Ayami;Fujino, Masahiko;Ito, Masafumi
卵巢原发性实性假乳头状肿瘤（SPN）是一种罕见的肿瘤；最近报告了6例。然而，其发病机制仍不清楚。我们报告了另一例原发性卵巢 SPN，患者为一名 18 岁女孩。本研究的目的是通过组织学和分子检查来明确胰腺和卵巢 SPN 之间的差异。显微镜下，肿瘤主要显示实性图案和局灶性假乳头状图案。肿瘤细胞表现出丰富的嗜酸性细胞质和胞质内空泡两种模式。肿瘤的免疫组织化学结果呈阳性，β-连环蛋白（核和细胞质反应性）、1-抗胰蛋白酶、波形蛋白、CD56、突触素（局灶性弱）、CD10。突变分析显示，β-连环蛋白基因 (CTNNB1) 的外显子 3 存在点突变，c.110C > T，导致密码子 37 处的丝氨酸被苯丙氨酸取代。Ser37 点突变已知是胰腺 SPN 中的致癌体细胞突变之一，也是主要的致癌性-连环蛋白突变。本病例的卵巢 SPN 与胰腺 SPN 组织学相似，并且具有相同的基因组特征。我们预计卵巢和胰腺 SPN 具有与肿瘤发生的 Wnt/-catenin 通路相关的相同肿瘤发生。
Primaly solid pseudopapillary neoplasm (SPN) of the ovary is a rare tumor; recently 6 cases have been reported. Its pathogenesis, however, remains largely unclear. We report an additional case of primary ovarian SPN of an 18-year-old girl. The aim of this study is to define the difference between pancreatic and ovarian SPN by histological and molecular examination. Microscopically the tumor predominantly showed a solid pattern and focally a pseudopapillary pattern. The tumor cells showed two patterns of abundant eosinophilic cytoplasm and intracytoplasmic vacuoles. Immunohistochemistry of the tumor was positive for -catenin (nuclear and cytoplasmic reactivity), 1-antitrypsin, vimentin, CD56, synaptophysin (focal weak), CD10. Mutation analyses revealed a point mutation, c.110C >T, in exon 3 of the the -catenin gene (CTNNB1), which causes the replacement of serine with phenylalanine at codon 37. A Ser37 point mutation is known to be one of the oncogenic somatic mutations in pancreatic SPN and the major oncogenic -catenin mutation. Ovarian SPN of our case was similar to pancreatic SPN histologicaly and had the same genomic characteristics. We expected that both ovarian and pancreatic SPNs shared the same oncogenesis related to Wnt/-catenin pathway for tumorgenesis.