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Primary Ovarian Solid Pseudopapillary Neoplasm With CTNNB1 c.98C>G (p.S33C) Point Mutation.
Kamaljeet Singh1, Nimesh Patel, Pallavi Patil
1Department of Pathology and Laboratory Medicine, Alpert Medical School of Brown University, Women & Infants Hospital of Rhode Island (K.S., C.P., W.D.L.) Department of Pathology and Laboratory Medicine, Alpert Medical School of Brown University, Rhode Island Hospital (N.P., P.P.) Program in Women's Oncology, Women & Infants Hospital (C.A.M.), Providence, Rhode Island.
Summary
This study reports a rare ovarian tumor, solid pseudopapillary neoplasm (SPN), with a specific genetic mutation (CTNNB1) also found in pancreatic SPN. This finding supports the similarity between ovarian and pancreatic SPN.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Solid pseudopapillary neoplasm (SPN) is a rare tumor typically originating in the pancreas.
- Ovary is an extrapancreatic site where SPN can rarely occur.
- Previous reports indicate limited cases of ovarian SPN, with only one confirmed CTNNB1 mutation.
Observation:
- A 49-year-old postmenopausal woman presented with a 4.5 cm right ovarian mass.
- Histologic and immunohistochemical analysis revealed features consistent with pancreatic SPN.
- The ovarian surface was intact, and the Ki-67 proliferation index was low (1%-5%).
Findings:
- DNA sequencing identified a CTNNB1 exon 3 mutation (c.98C>G, p.S33C) in the ovarian mass.
- This specific mutation is a known activating mutation previously identified in pancreatic SPN.
- This case represents the second documented instance of ovarian SPN with a confirmed CTNNB1 mutation.
Implications:
- The findings reinforce the phenotypic and genotypic similarities between primary ovarian SPN and pancreatic SPN.
- This genetic link may have implications for understanding the pathogenesis and potential therapeutic targets for ovarian SPN.
- Further research into extrapancreatic SPN is warranted to elucidate their origins and biological behavior.
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