Matsuyama Atsuji, Shiba Eisuke, Umekita Yoshihisa, Nosaka Kanae, Kamio Takihiro, Yanai Hiroyuki, Miyasaka Chika, Watanabe Reiko, Ito Ichiro, Tamaki Tomoko, Hayashi Shinichi, Hisaoka Masanori
*Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu †Division of Organ Pathology, Tottori University Faculty of Medicine, Yonago, Tottori ‡Department of Pathology, Saiseikai Kumamoto Hospital, Kumamoto §Department of Pathology, Okayama University Hospital, Okayama ∥Department of Pathology and Diagnostics, Kansai Medical University Hospital, Hirakata, Osaka ¶Pathology Division, Shizuoka Cancer Center, Shizuoka #Pathology and Clinical Laboratory Division, National Cancer Center Hospital, Tokyo **Department of Pathology and Oncology, Graduate School of Medical Science, University of the Ryukyus, Okinawa ††Department of Diagnostic Pathology, Faculty of Medicine, University of Toyama, Toyama, Japan.
Am J Surg Pathol. 2017 Dec;41(12):1713-1721. doi: 10.1097/PAS.0000000000000934.
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.
携带BCOR-CCNB3融合基因的未分化肉瘤的特点是易累及青春期男性骨骼、具有细胞性小圆形/梭形细胞形态以及CCNB3免疫反应性。我们分析了11例BCOR-CCNB3肉瘤，其中10例是在对我们数据库中记录为未分类小圆形或梭形细胞肉瘤的85份患者样本进行基于逆转录-聚合酶链反应的筛查时发现的。通过荧光原位杂交在8个肿瘤中证实了BCOR重排。所有患者均为6至31岁的男性。除了5个位于软组织和4个位于轴骨或附肢骨骼（典型部位）的肿瘤外，1个肿瘤位于鼻窦，另1个位于肺。显微镜下，肿瘤由增殖的非典型梭形和/或小圆形细胞组成，具有多种形态特征，如小同心漩涡、黏液样间质、血管外皮细胞瘤样外观和/或类似孤立性纤维瘤的玻璃样化胶原，以及含有外渗红细胞的血管瘤样或裂隙样间隙。肿瘤细胞对CCNB3（9/11）、BCOR（10/10）、TLE1（6/10）、bcl-2（9/11）、CD99（8/10）、CD56（8/10）、c-kit（4/10）和细胞周期蛋白D1（10/10）呈免疫反应性。在对另外412个小圆形或梭形细胞肿瘤进行的免疫组织化学分析中，检测到6个（1.5%）肿瘤中有CCNB3，18个（4.4%）肿瘤中有BCOR。我们的分析突出了该肿瘤不同的临床病理特征，这些特征与其他小圆形或梭形细胞肿瘤（包括孤立性纤维瘤和血管肿瘤）部分重叠。由于CCNB3和BCOR免疫组织化学缺乏足够的敏感性和特异性，分子遗传学方法对于诊断仍然至关重要。
