Clinicopathologic Diversity of Undifferentiated Sarcoma With BCOR-CCNB3 Fusion
| Autor: | Hiroyuki Yanai, Reiko Watanabe, Chika Miyasaka, Kanae Nosaka, Tomoko Tamaki, Ichiro Ito, Takihiro Kamio, Eisuke Shiba, Yoshihisa Umekita, Shinichi Hayashi, Atsuji Matsuyama, Masanori Hisaoka |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine Pathology medicine.medical_specialty Solitary fibrous tumor Adolescent CD99 In situ hybridization Cyclin B Biology Cell morphology Pathology and Forensic Medicine Young Adult 03 medical and health sciences 0302 clinical medicine Predictive Value of Tests Proto-Oncogene Proteins Biomarkers Tumor medicine Humans Genetic Predisposition to Disease Child In Situ Hybridization Fluorescence medicine.diagnostic_test Reverse Transcriptase Polymerase Chain Reaction Reproducibility of Results Soft tissue Cell Differentiation medicine.disease Immunohistochemistry Repressor Proteins Phenotype 030104 developmental biology 030220 oncology & carcinogenesis Sarcoma Small Cell Surgery Sarcoma Gene Fusion Anatomy Fluorescence in situ hybridization |
| Zdroj: | American Journal of Surgical Pathology. 41:1713-1721 |
| ISSN: | 0147-5185 |
| DOI: | 10.1097/pas.0000000000000934 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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