Histological and immunohistochemical characteristics of undifferentiated small round cell sarcomas associated with CIC-DUX4 and BCOR-CCNB3 fusion genes

Yuichi Yamada, Masaaki Kuda, Kenichi Kouhashi, Hidetaka Yamamoto, Junkichi Takemoto, Takeaki Ishii, Kunio Iura, Akira Maekawa, Hirofumi Bekki, Takamichi Ito, Hiroshi Otsuka, Makoto Kuroda, Yumi Honda, Shinji Sumiyoshi, Takeshi Inoue, Naoe Kinoshita, Atsushi Nishida, Kyoko Yamashita, Ichiro Ito, Shizuo Komune & 3 others Tomoaki Taguchi, Yukihide Iwamoto, Yoshinao Oda

研究成果: ジャーナルへの寄稿記事

27 引用 (Scopus)

抄録

CIC-DUX4 and BCOR-CCNB3 fusion-gene-associated small round cell sarcomas account for a proportion of pediatric small round cell sarcomas, but their pathological features have not been sufficiently clarified. We reviewed a large number of soft tissue tumors registered at our institution, retrieved the cases of unclassified tumors with a small round cell component, and subjected them to histopathological, immunohistochemical, and gene profile analysis. We reviewed 164 cases of unclassified tumors with a small round cell component and analyzed them by RT-PCR and FISH. Tumors positive for a specific fusion-gene were also subjected to histopathological and immunohistochemical examinations. We identified 16 cases of BCOR-CCNB3/CIC-associated (CIC-DUX4 or CIC gene rearrangement-positive) sarcomas. These included seven BCOR-CCNB3 sarcomas and nine CIC-associated sarcomas. Heterogeneous elements included a myxoid spindle cell component in three BCOR-CCNB3 sarcomas and an epithelioid cell component in two CIC-associated sarcomas (one CIC-DUX4-positive and one CIC-DUX4-negative sarcomas). Mitotic activity was low in both heterogeneous components. By immunohistochemistry, in seven BCOR-CCNB3 sarcomas expression of EMA was positive in two cases, of p63 in three, of CD56 in six, of TLE1 in seven, of NKX2.2 in two, of CCNB3 in seven, and of BCOR in six cases (one case could not be tested for BCOR). In nine cases of CIC-associated sarcoma, CD56 was expressed in five, alpha-smooth muscle actin in one, ERG in three, and CD99, WT1 and TLE1 each in eight cases. Both sarcoma types showed not only a small round cell component, but also a myxoid/epithelioid component with low mitotic activity.

元の言語英語
ページ(範囲)373-380
ページ数8
ジャーナルVirchows Archiv
470
発行部数4
DOI
出版物ステータス出版済み - 4 1 2017

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Small Cell Sarcoma
Gene Fusion
Sarcoma
Cellular Structures
Neoplasms
Epithelioid Cells
Gene Rearrangement
Smooth Muscle
Actins

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

これを引用

Histological and immunohistochemical characteristics of undifferentiated small round cell sarcomas associated with CIC-DUX4 and BCOR-CCNB3 fusion genes. / Yamada, Yuichi; Kuda, Masaaki; Kouhashi, Kenichi; Yamamoto, Hidetaka; Takemoto, Junkichi; Ishii, Takeaki; Iura, Kunio; Maekawa, Akira; Bekki, Hirofumi; Ito, Takamichi; Otsuka, Hiroshi; Kuroda, Makoto; Honda, Yumi; Sumiyoshi, Shinji; Inoue, Takeshi; Kinoshita, Naoe; Nishida, Atsushi; Yamashita, Kyoko; Ito, Ichiro; Komune, Shizuo; Taguchi, Tomoaki; Iwamoto, Yukihide; Oda, Yoshinao.

:: Virchows Archiv, 巻 470, 番号 4, 01.04.2017, p. 373-380.

研究成果: ジャーナルへの寄稿記事

Yamada, Y, Kuda, M, Kouhashi, K, Yamamoto, H, Takemoto, J, Ishii, T, Iura, K, Maekawa, A, Bekki, H, Ito, T, Otsuka, H, Kuroda, M, Honda, Y, Sumiyoshi, S, Inoue, T, Kinoshita, N, Nishida, A, Yamashita, K, Ito, I, Komune, S, Taguchi, T, Iwamoto, Y & Oda, Y 2017, 'Histological and immunohistochemical characteristics of undifferentiated small round cell sarcomas associated with CIC-DUX4 and BCOR-CCNB3 fusion genes', Virchows Archiv, 巻. 470, 番号 4, pp. 373-380. https://doi.org/10.1007/s00428-017-2072-8
Yamada, Yuichi ; Kuda, Masaaki ; Kouhashi, Kenichi ; Yamamoto, Hidetaka ; Takemoto, Junkichi ; Ishii, Takeaki ; Iura, Kunio ; Maekawa, Akira ; Bekki, Hirofumi ; Ito, Takamichi ; Otsuka, Hiroshi ; Kuroda, Makoto ; Honda, Yumi ; Sumiyoshi, Shinji ; Inoue, Takeshi ; Kinoshita, Naoe ; Nishida, Atsushi ; Yamashita, Kyoko ; Ito, Ichiro ; Komune, Shizuo ; Taguchi, Tomoaki ; Iwamoto, Yukihide ; Oda, Yoshinao. / Histological and immunohistochemical characteristics of undifferentiated small round cell sarcomas associated with CIC-DUX4 and BCOR-CCNB3 fusion genes. :: Virchows Archiv. 2017 ; 巻 470, 番号 4. pp. 373-380.
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abstract = "CIC-DUX4 and BCOR-CCNB3 fusion-gene-associated small round cell sarcomas account for a proportion of pediatric small round cell sarcomas, but their pathological features have not been sufficiently clarified. We reviewed a large number of soft tissue tumors registered at our institution, retrieved the cases of unclassified tumors with a small round cell component, and subjected them to histopathological, immunohistochemical, and gene profile analysis. We reviewed 164 cases of unclassified tumors with a small round cell component and analyzed them by RT-PCR and FISH. Tumors positive for a specific fusion-gene were also subjected to histopathological and immunohistochemical examinations. We identified 16 cases of BCOR-CCNB3/CIC-associated (CIC-DUX4 or CIC gene rearrangement-positive) sarcomas. These included seven BCOR-CCNB3 sarcomas and nine CIC-associated sarcomas. Heterogeneous elements included a myxoid spindle cell component in three BCOR-CCNB3 sarcomas and an epithelioid cell component in two CIC-associated sarcomas (one CIC-DUX4-positive and one CIC-DUX4-negative sarcomas). Mitotic activity was low in both heterogeneous components. By immunohistochemistry, in seven BCOR-CCNB3 sarcomas expression of EMA was positive in two cases, of p63 in three, of CD56 in six, of TLE1 in seven, of NKX2.2 in two, of CCNB3 in seven, and of BCOR in six cases (one case could not be tested for BCOR). In nine cases of CIC-associated sarcoma, CD56 was expressed in five, alpha-smooth muscle actin in one, ERG in three, and CD99, WT1 and TLE1 each in eight cases. Both sarcoma types showed not only a small round cell component, but also a myxoid/epithelioid component with low mitotic activity.",
author = "Yuichi Yamada and Masaaki Kuda and Kenichi Kouhashi and Hidetaka Yamamoto and Junkichi Takemoto and Takeaki Ishii and Kunio Iura and Akira Maekawa and Hirofumi Bekki and Takamichi Ito and Hiroshi Otsuka and Makoto Kuroda and Yumi Honda and Shinji Sumiyoshi and Takeshi Inoue and Naoe Kinoshita and Atsushi Nishida and Kyoko Yamashita and Ichiro Ito and Shizuo Komune and Tomoaki Taguchi and Yukihide Iwamoto and Yoshinao Oda",
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T1 - Histological and immunohistochemical characteristics of undifferentiated small round cell sarcomas associated with CIC-DUX4 and BCOR-CCNB3 fusion genes

AU - Yamada, Yuichi

AU - Kuda, Masaaki

AU - Kouhashi, Kenichi

AU - Yamamoto, Hidetaka

AU - Takemoto, Junkichi

AU - Ishii, Takeaki

AU - Iura, Kunio

AU - Maekawa, Akira

AU - Bekki, Hirofumi

AU - Ito, Takamichi

AU - Otsuka, Hiroshi

AU - Kuroda, Makoto

AU - Honda, Yumi

AU - Sumiyoshi, Shinji

AU - Inoue, Takeshi

AU - Kinoshita, Naoe

AU - Nishida, Atsushi

AU - Yamashita, Kyoko

AU - Ito, Ichiro

AU - Komune, Shizuo

AU - Taguchi, Tomoaki

AU - Iwamoto, Yukihide

AU - Oda, Yoshinao

PY - 2017/4/1

Y1 - 2017/4/1

N2 - CIC-DUX4 and BCOR-CCNB3 fusion-gene-associated small round cell sarcomas account for a proportion of pediatric small round cell sarcomas, but their pathological features have not been sufficiently clarified. We reviewed a large number of soft tissue tumors registered at our institution, retrieved the cases of unclassified tumors with a small round cell component, and subjected them to histopathological, immunohistochemical, and gene profile analysis. We reviewed 164 cases of unclassified tumors with a small round cell component and analyzed them by RT-PCR and FISH. Tumors positive for a specific fusion-gene were also subjected to histopathological and immunohistochemical examinations. We identified 16 cases of BCOR-CCNB3/CIC-associated (CIC-DUX4 or CIC gene rearrangement-positive) sarcomas. These included seven BCOR-CCNB3 sarcomas and nine CIC-associated sarcomas. Heterogeneous elements included a myxoid spindle cell component in three BCOR-CCNB3 sarcomas and an epithelioid cell component in two CIC-associated sarcomas (one CIC-DUX4-positive and one CIC-DUX4-negative sarcomas). Mitotic activity was low in both heterogeneous components. By immunohistochemistry, in seven BCOR-CCNB3 sarcomas expression of EMA was positive in two cases, of p63 in three, of CD56 in six, of TLE1 in seven, of NKX2.2 in two, of CCNB3 in seven, and of BCOR in six cases (one case could not be tested for BCOR). In nine cases of CIC-associated sarcoma, CD56 was expressed in five, alpha-smooth muscle actin in one, ERG in three, and CD99, WT1 and TLE1 each in eight cases. Both sarcoma types showed not only a small round cell component, but also a myxoid/epithelioid component with low mitotic activity.

AB - CIC-DUX4 and BCOR-CCNB3 fusion-gene-associated small round cell sarcomas account for a proportion of pediatric small round cell sarcomas, but their pathological features have not been sufficiently clarified. We reviewed a large number of soft tissue tumors registered at our institution, retrieved the cases of unclassified tumors with a small round cell component, and subjected them to histopathological, immunohistochemical, and gene profile analysis. We reviewed 164 cases of unclassified tumors with a small round cell component and analyzed them by RT-PCR and FISH. Tumors positive for a specific fusion-gene were also subjected to histopathological and immunohistochemical examinations. We identified 16 cases of BCOR-CCNB3/CIC-associated (CIC-DUX4 or CIC gene rearrangement-positive) sarcomas. These included seven BCOR-CCNB3 sarcomas and nine CIC-associated sarcomas. Heterogeneous elements included a myxoid spindle cell component in three BCOR-CCNB3 sarcomas and an epithelioid cell component in two CIC-associated sarcomas (one CIC-DUX4-positive and one CIC-DUX4-negative sarcomas). Mitotic activity was low in both heterogeneous components. By immunohistochemistry, in seven BCOR-CCNB3 sarcomas expression of EMA was positive in two cases, of p63 in three, of CD56 in six, of TLE1 in seven, of NKX2.2 in two, of CCNB3 in seven, and of BCOR in six cases (one case could not be tested for BCOR). In nine cases of CIC-associated sarcoma, CD56 was expressed in five, alpha-smooth muscle actin in one, ERG in three, and CD99, WT1 and TLE1 each in eight cases. Both sarcoma types showed not only a small round cell component, but also a myxoid/epithelioid component with low mitotic activity.

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