Primary Ovarian Solid Pseudopapillary Neoplasm With CTNNB1 c.98C>G (p.S33C) Point Mutation

被引：14

作者：

Singh, Kamaljeet ^{[1
]}

Patel, Nimesh ^{[2
]}

Patil, Pallavi ^{[2
]}

Paquette, Cherie ^{[1
]}

Mathews, Cara A. ^{[3
]}

Lawrence, W. Dwayne ^{[1
]}

机构：

[1] Brown Univ, Women & Infants Hosp Rhode Isl, Alpert Med Sch, Dept Pathol & Lab Med, Providence, RI 02912 USA

[2] Brown Univ, Rhode Isl Hosp, Alpert Med Sch, Dept Pathol & Lab Med, Providence, RI 02903 USA

[3] Women & Infants Hosp Rhode Isl, Program Womens Oncol, Providence, RI USA

来源：

INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY | 2018年 / 37卷 / 02期

基金：

美国国家卫生研究院; 英国惠康基金;

关键词：

Ovary; Solid papillary neoplasm; Catenin; Point mutation; Extrapancreatic; OF-THE-LITERATURE; MICROCYSTIC STROMAL TUMOR; BETA-CATENIN MUTATION; E-CADHERIN; GENE-EXPRESSION; CYSTIC TUMOR; PANCREAS; ORIGIN; MESOCOLON; PATHWAYS;

D O I：

10.1097/PGP.0000000000000396

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Ovary is one of the extrapancreatic sites of origin of solid pseudopapillary neoplasm (SPN). Only 9 cases of primary ovarian SPN, 1 with CTNNB1 mutation similar to pancreatic SPN, have been reported in the English literature. We describe the second case of ovarian SPN with confirmed CTNNB1 mutation. A 49-year-old postmenopausal woman presented with a 4.5 cm right ovarian mass. Ovarian mass showed histologic and immunohistochemical features of pancreatic SPN. The ovarian surface was intact and uninvolved. Ki-67 index was low (1%-5%). DNA sequencing of CTNNB1 exon 3 revealed c.98C>G (p.S33C), a well-characterized activating mutation. Our case adds to the growing body of evidence that primary ovarian SPN are phenotypically and genotypically similar to pancreatic SPN.

引用

页码：110 / 116

页数：7

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Primary Ovarian Solid Pseudopapillary Neoplasm With CTNNB1 c.98C&gt;G (p.S33C) Point Mutation

Primary Ovarian Solid Pseudopapillary Neoplasm With CTNNB1 c.98C>G (p.S33C) Point Mutation