CTNNB1 Mutations in ovarian microcystic stromal tumors

Identification of a novel deletion mutation and the use of pyrosequencing to identify reported point mutation

Kiyong Na, Eunkyung Kim, Wonjun Jang, Hyunsoo Kim

Research output: Contribution to journalArticle

10 Citations (Scopus)

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 Ecadherin, inhibin-a, 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.

Original languageEnglish
Pages (from-to)3249-3258
Number of pages10
JournalAnticancer research
Volume37
Issue number6
DOIs
Publication statusPublished - 2017 Jun 1

Fingerprint

Sequence Deletion
Point Mutation
Mutation
Neoplasms
Exons
Calbindin 2
Catenins
Inhibins
Wilms Tumor
Cyclin D1
Vimentin
Progesterone Receptors
Giant Cells
Cell Nucleus
Estrogen Receptors
Abdominal Pain
Ovary
Cytoplasm
Fever
Nucleotides

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research

Cite this

@article{71fbc5f6443047639e336250d36d39a7,
title = "CTNNB1 Mutations in ovarian microcystic stromal tumors: Identification of a novel deletion mutation and the use of pyrosequencing to identify reported point mutation",
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 Ecadherin, inhibin-a, 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.",
author = "Kiyong Na and Eunkyung Kim and Wonjun Jang and Hyunsoo Kim",
year = "2017",
month = "6",
day = "1",
doi = "10.21873/anticanres.11688",
language = "English",
volume = "37",
pages = "3249--3258",
journal = "Anticancer Research",
issn = "0250-7005",
publisher = "International Institute of Anticancer Research",
number = "6",

}

TY - JOUR

T1 - CTNNB1 Mutations in ovarian microcystic stromal tumors

T2 - Identification of a novel deletion mutation and the use of pyrosequencing to identify reported point mutation

AU - Na, Kiyong

AU - Kim, Eunkyung

AU - Jang, Wonjun

AU - Kim, Hyunsoo

PY - 2017/6/1

Y1 - 2017/6/1

N2 - 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 Ecadherin, inhibin-a, 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.

AB - 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 Ecadherin, inhibin-a, 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.

UR - http://www.scopus.com/inward/record.url?scp=85019727420&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85019727420&partnerID=8YFLogxK

U2 - 10.21873/anticanres.11688

DO - 10.21873/anticanres.11688

M3 - Article

VL - 37

SP - 3249

EP - 3258

JO - Anticancer Research

JF - Anticancer Research

SN - 0250-7005

IS - 6

ER -