Department of Pathology, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Hum Pathol. 2013 May;44(5):881-7. doi: 10.1016/j.humpath.2012.08.014. Epub 2012 Dec 13.
The absence of INI1 (SMARCB1, hSNF5, BAF47) immunohistochemical reactivity is a central feature of malignant rhabdoid tumor, renal medullary carcinoma, and epithelioid sarcoma. We characterized INI1 immunoreactivity in synovial sarcoma (49 cases) in comparison with its closest histologic mimics (68 cases). We observed a unique pattern of decreased INI1 immunoreactivity with a high specificity (100%) and sensitivity (86%) for synovial sarcoma and particular sensitivity for poorly differentiated subtypes of synovial sarcoma (94%; 16/17 cases). Decreased INI1 immunoreactivity was not seen in any of the other lesions we examined, including 14 cases of Ewing sarcoma and 22 cases of malignant peripheral nerve sheath tumor. Furthermore, decreased INI1 immunoreactivity is distinct from the complete absence of INI1 immunoreactivity seen in malignant rhabdoid tumor or other INI1-negative neoplasms. We propose that this distinct INI1 immunohistochemical pattern serves as a useful diagnostic tool to provide preliminary results before molecular test results are available, especially in cases of poorly differentiated synovial sarcoma and in cases where limited material precludes confirmatory molecular studies. Awareness of this unique pattern is critical to avoid misinterpreting decreased INI1 immunoreactivity as a complete absence of INI1 and, consequently, misdiagnosing synovial sarcoma as an INI1-negative neoplasm.
INI1(SMARCB1、hSNF5、BAF47)免疫组化无反应是恶性横纹肌样瘤、肾髓质癌和上皮样肉瘤的主要特征。我们比较滑膜肉瘤(49 例)与最接近的组织学模拟物(68 例)的 INI1 免疫反应性。我们观察到 INI1 免疫反应性降低的独特模式,具有滑膜肉瘤的高特异性(100%)和敏感性(86%),并且对分化不良的滑膜肉瘤亚型具有特殊的敏感性(94%;16/17 例)。我们检查的其他任何病变均未见 INI1 免疫反应性降低,包括 14 例尤文肉瘤和 22 例恶性周围神经鞘瘤。此外,INI1 免疫反应性降低与恶性横纹肌样瘤或其他 INI1 阴性肿瘤中所见的 INI1 完全缺失不同。我们建议这种独特的 INI1 免疫组织化学模式可作为在获得分子检测结果之前提供初步结果的有用诊断工具,尤其是在分化不良的滑膜肉瘤和材料有限而无法进行确认性分子研究的情况下。了解这种独特的模式对于避免将 INI1 免疫反应性降低误解为 INI1 完全缺失以及随后将滑膜肉瘤误诊为 INI1 阴性肿瘤至关重要。