Literature DB >> 28551672

CTNNB1 Mutations in Ovarian Microcystic Stromal Tumors: Identification of a Novel Deletion Mutation and the Use of Pyrosequencing to Identify Reported Point Mutation.

Kiyong Na1, Eun Kyung Kim1, Wonjun Jang2, Hyun-Soo Kim3.   

Abstract

BACKGROUND/AIM: Microcystic stromal tumor (MCST) is a rare stromal tumor of the ovary. In this study, we describe clinicopathological characteristics and results of mutational analyses of the CTNNB1gene in two cases of ovarian MCST and we provide a thorough review of previously published cases alongside our current cases and clarify the clinicopathological characteristics of ovarian MCST. PATIENTS AND METHODS: Patients' age was 33 and 31 years, respectively. One patient presented with fever and low abdominal pain, whereas a pelvic mass was incidentally detected in another patient. Grossly, the cut surface of the tumors was mixed solid and cystic.
RESULTS: Histologically, the tumor characteristically displayed numerous microcysts, solid cellular areas, and intervening hyalinized stroma. Areas of moderate-to-severe nuclear pleomorphism with occasional multinucleated giant cells and bizarre nuclei were noted in one of the two cases. Immunohistochemically, both cases demonstrated diffuse and strong β-catenin expression in the nuclei and the cytoplasm. The tumor cells were also diffusely positive for CD10, vimentin, Wilms tumor 1, and cyclin D1. The tumor cells were consistently negative for E-cadherin, inhibin-α, calretinin, estrogen receptor, and progesterone receptor. Mutational analyses using direct sequencing and pyrosequencing methods exhibited a single nucleotide mutation in CTNNB1 exon 3 (c.122C>T) in one case. We also found a novel deletion mutation in the same exon (c.88_99delTACCTGGACTCT) in another case.
CONCLUSION: We demonstrated a previously reported CTNNB1 point-mutation using pyrosequencing and a novel deletion mutation in ovarian MCSTs. The review of the literature of previously published cases in combination with our current cases clarifies the clinicopathological characteristics of ovarian MCST and the comprehensive analysis of these cases would expand our knowledge regarding ovarian MCST. Copyright
© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Entities:  

Keywords:  CTNNB1; Microcystic stromal tumor; mutation; ovary; pyrosequencing; β-catenin

Mesh:

Substances:

Year:  2017        PMID: 28551672     DOI: 10.21873/anticanres.11688

Source DB:  PubMed          Journal:  Anticancer Res        ISSN: 0250-7005            Impact factor:   2.480


  7 in total

1.  A graph-embedded deep feedforward network for disease outcome classification and feature selection using gene expression data.

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Journal:  Bioinformatics       Date:  2018-11-01       Impact factor: 6.937

2.  Targeted Sequencing of Tubo-ovarian and Peritoneal High-grade Serous Carcinoma With Wild-type p53 Immunostaining Pattern.

Authors:  Han-Na Kim; Ha Young Woo; Sung-Im DO; Hyun-Soo Kim
Journal:  In Vivo       Date:  2019 Sep-Oct       Impact factor: 2.155

3.  Microcystic stromal tumor of the ovary: a recurrent case with somatic CTNNB1 missense mutation.

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Journal:  Virchows Arch       Date:  2022-06-14       Impact factor: 4.064

4.  Targeted Genomic Sequencing Reveals Different Evolutionary Patterns Between Locally and Distally Recurrent Glioblastomas.

Authors:  Nara Yoon; Hyun-Soo Kim; Jung Whee Lee; Eui-Jin Lee; Lee-So Maeng; Wan Soo Yoon
Journal:  Cancer Genomics Proteomics       Date:  2020 Nov-Dec       Impact factor: 4.069

5.  Atypical Mesonephric Hyperplasia of the Uterus Harbors Pathogenic Mutation of Kirsten Rat Sarcoma 2 Viral Oncogene Homolog (KRAS) and Gain of Chromosome 1q.

Authors:  Hyunjin Kim; Nara Yoon; Ha Young Woo; Eui-Jin Lee; Sung-Im DO; Kiyong Na; Hyun-Soo Kim
Journal:  Cancer Genomics Proteomics       Date:  2020 Nov-Dec       Impact factor: 4.069

6.  Ovarian Microcystic Stromal Tumor: A Case Report and Literature Review.

Authors:  Lin Deng; Dingqing Feng; Jing Liang; Jie Luo; Bin Ling
Journal:  Front Med (Lausanne)       Date:  2020-02-25

Review 7.  Ovarian microcystic stromal tumor with omental metastasis: the first case report and literature review.

Authors:  Xiaxia Man; Zhentong Wei; Baogang Wang; Wanying Li; Lingling Tong; Liang Guo; Songling Zhang
Journal:  J Ovarian Res       Date:  2021-05-27       Impact factor: 4.234

  7 in total

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