Clinicopathologic Diversity of Undifferentiated Sarcoma With BCOR-CCNB3 Fusion: Analysis of 11 Cases With a Reappraisal of the Utility of Immunohistochemistry for BCOR and CCNB3

被引:64
作者
Matsuyama, Atsuji [1 ]
Shiba, Eisuke [1 ]
Umekita, Yoshihisa [2 ]
Nosaka, Kanae [2 ]
Kamio, Takihiro [3 ]
Yanai, Hiroyuki [4 ]
Miyasaka, Chika [5 ]
Watanabe, Reiko [6 ,7 ]
Ito, Ichiro [6 ]
Tamaki, Tomoko [8 ]
Hayashi, Shinichi [9 ]
Hisaoka, Masanori [1 ]
机构
[1] Univ Occupat & Environm Hlth, Sch Med, Dept Pathol & Oncol, Kitakyushu, Fukuoka, Japan
[2] Tottori Univ, Fac Med, Div Organ Pathol, Yonago, Tottori, Japan
[3] Saiseikai Kumamoto Hosp, Dept Pathol, Kumamoto, Japan
[4] Okayama Univ Hosp, Dept Pathol, Okayama, Japan
[5] Kansai Med Univ Hosp, Dept Pathol & Diagnost, Hirakata, Osaka, Japan
[6] Shizuoka Canc Ctr, Pathol Div, Shizuoka, Japan
[7] Natl Canc Ctr, Pathol & Clin Lab Div, Tokyo, Japan
[8] Univ Ryukyus, Grad Sch Med Sci, Dept Pathol & Oncol, Nishihara, Okinawa, Japan
[9] Toyama Univ, Dept Diagnost Pathol, Fac Med, Toyama, Japan
关键词
undifferentiated sarcoma; BCOR-CCNB3; immunohistochemistry; RT-PCR; FISH; ROUND-CELL SARCOMAS; CIC-DUX4; TUMORS; DIAGNOSIS; MARKER;
D O I
10.1097/PAS.0000000000000934
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Undifferentiated sarcoma harboring the BCOR-CCNB3 fusion is characterized by its predilection to affect skeletons of adolescent males, cellular small round/spindle cell morphology, and CCNB3 immunoreactivity. We analyzed 11 cases of BCOR-CCNB3 sarcoma, 10 of which were identified in a reverse transcription-polymerase chain reaction-based screen of 85 patient samples recorded in our database as unclassified small round or spindle cell sarcomas. BCOR rearrangements were confirmed by fluorescence in situ hybridization in 8 tumors. All patients were males aged between 6 and 31 years. In addition to 5 tumors in soft tissue and 4 in the axial or appendicular skeletons, which are typical locations, a tumor was located in the paranasal sinus and another in the lung. Microscopically, the tumors comprised proliferating atypical spindle and/or small round cells with diverse morphologic features such as small concentric whorls, myxoid stroma, a hemangiopericytomatous appearance, and/or hyalinized collagen resembling a solitary fibrous tumor, and angiomatous or slit-like spaces containing extravasated erythrocytes. Tumor cells were immunoreactive to CCNB3 (9/11), BCOR (10/10), TLE1 (6/10), bcl-2 (9/11), CD99 (8/10), CD56 (8/10), c-kit (4/10), and cyclin D1 (10/10). In an immunohistochemical analysis of an additional 412 small round or spindle cell tumors, CCNB3 was detected in 6 (1.5%) and BCOR in 18 (4.4%). Our analysis highlights the varying clinicopathologic features of this tumor, which partially overlap with other small round or spindle cell tumors, including solitary fibrous tumor and vascular tumors. Because CCNB3 and BCOR immunohistochemistry lacks adequate sensitivity and specificity, a molecular genetic approach remains essential for diagnosis.
引用
收藏
页码:1713 / 1721
页数:9
相关论文
共 22 条
  • [1] Loss of Retinoblastoma Protein Expression in Spindle Cell/Pleomorphic Lipomas and Cytogenetically Related Tumors: An Immunohistochemical Study With Diagnostic Implications
    Chen, Benjamin J.
    Marino-Enriquez, Adrian
    Fletcher, Christopher D. M.
    Hornick, Jason L.
    [J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2012, 36 (08) : 1119 - 1128
  • [2] Choi EYK, 2013, AM J SURG PATHOL, V37, P1379, DOI 10.1097/PAS.0b013e318297a57d
  • [3] Ewing-like Sarcomas With BCOR-CCNB3 Fusion Transcript: A Clinical, Radiological and Pathological Retrospective Study From the Societe Francaise des Cancers de L'Enfant
    Cohen-Gogo, Sarah
    Cellier, Cecile
    Coindre, Jean-Michel
    Mosseri, Veronique
    Pierron, Gaelle
    Guillemet, Cecile
    Italiano, Antoine
    Brugieres, Laurence
    Orbach, Daniel
    Laurence, Valerie
    Delattre, Olivier
    Michon, Jean
    [J]. PEDIATRIC BLOOD & CANCER, 2014, 61 (12) : 2191 - 2198
  • [4] High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas
    Italiano, Antoine
    Sung, Yun Shao
    Zhang, Lei
    Singer, Samuel
    Maki, Robert G.
    Coindre, Jean-Michel
    Antonescu, Cristina R.
    [J]. GENES CHROMOSOMES & CANCER, 2012, 51 (03) : 207 - 218
  • [5] BCOR Overexpression Is a Highly Sensitive Marker in Round Cell Sarcomas With BCOR Genetic Abnormalities
    Kao, Yu-Chien
    Sung, Yun-Shao
    Zhang, Lei
    Jungbluth, Achim A.
    Huang, Shih-Chiang
    Argani, Pedram
    Agaram, Narasimhan P.
    Zin, Angelica
    Alaggio, Rita
    Antonescu, Cristina R.
    [J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2016, 40 (12) : 1670 - 1678
  • [6] Nuclear relocation of STAT6 reliably predicts NAB2-STAT6 fusion for the diagnosis of solitary fibrous tumour
    Koelsche, Christian
    Schweizer, Leonille
    Renner, Marcus
    Warth, Arne
    Jones, David T. W.
    Sahm, Felix
    Reuss, David E.
    Capper, David
    Knoesel, Thomas
    Schulz, Birte
    Petersen, Iver
    Ulrich, Alexis
    Renker, Eva Kristin
    Lehner, Burkhard
    Pfister, Stefan M.
    Schirmacher, Peter
    von Deimling, Andreas
    Mechtersheimer, Gunhild
    [J]. HISTOPATHOLOGY, 2014, 65 (05) : 613 - 622
  • [7] BCOR-CCNB3-positive soft tissue sarcoma with round-cell and spindle-cell histology: a series of four cases highlighting the pitfall of mimicking poorly differentiated synovial sarcoma
    Li, Wan-Shan
    Liao, I-Chuang
    Wen, Mei-Chin
    Lan, Howard Haw-Chang
    Yu, Shih-Chen
    Huang, Hsuan-Ying
    [J]. HISTOPATHOLOGY, 2016, 69 (05) : 792 - 801
  • [8] BCOR-CCNB3 Undifferentiated Sarcoma-Does Immunohistochemistry Help in the Identification?
    Ludwig, Kathrin
    Alaggio, Rita
    Zin, Angelica
    Peron, Marica
    Guzzardo, Vincenza
    Benini, Stefania
    Righi, Alberto
    Gambarotti, Marco
    [J]. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2017, 20 (04) : 321 - 329
  • [9] Defining Ewing and Ewing-like small round cell tumors (SRCT): The need for molecular techniques in their categorization and differential diagnosis. A study of 200 cases
    Machado, Isidro
    Navarro, Lara
    Pellin, Antonio
    Navarro, Samuel
    Agaimy, Abbas
    Tardio, Juan C.
    Karseladze, Apollon
    Petrov, Semyon
    Scotlandi, Katia
    Picci, Piero
    Llombart-Bosch, Antonio
    [J]. ANNALS OF DIAGNOSTIC PATHOLOGY, 2016, 22 : 25 - 32
  • [10] Aberrant PLAG1 expression in pleomorphic adenomas of the salivary gland: a molecular genetic and immunohistochemical study
    Matsuyama, Atsuji
    Hisaoka, Masanori
    Nagao, Yuichi
    Hashimoto, Hiroshi
    [J]. VIRCHOWS ARCHIV, 2011, 458 (05) : 583 - 592