未经证实：尤文肉瘤（ES）是以EWSR1基因重排为特征的恶性小圆细胞肿瘤（MSRCT）。尽管诊断的黄金标准是通过分子检测来检测特定的融合基因，这些辅助测试成本很高，只能在有限的设置中使用。有说服力的证据表明NKX2.2免疫组织化学（IHC）作为ES中EWSR1基因重排的替代标记的可靠性。
UNASSIGNED：这项研究的目的是将NKX2.2免疫表达与遗传证实的ES病例相关联，并评估NKX2.2的可靠性和准确性以及NXX2.2和CD99在诊断ES中的联合阳性和将其与其他相关组织学模拟物区分开。
UNASSIGNED：本研究是在三级癌症护理中心进行的为期6年的回顾性研究。
UNASSIGNED：我们评估了35例遗传确诊的ES以及包括横纹肌肉瘤（n=20）在内的ES的相关差异实体（n=58）的NKX2.2免疫表达，淋巴母细胞淋巴瘤（n=14），肾母细胞瘤（n=10），低分化滑膜肉瘤（n=4），小细胞骨肉瘤（n=4），神经母细胞瘤（n=5），和间充质软骨肉瘤（n=1）。CD99在显示NKX2.2阳性的MSRCT类别中进行，以评估诊断ES的组合特异性。
未经批准：在35例基因确诊的ES病例中，29例（83％）显示NKX2.2阳性表达（83％敏感性）。与ES相比，NKX2.2在非ESMSRCT中仅有05％（3/58例）为阳性。5例神经母细胞瘤和1例间叶性软骨肉瘤中只有2例显示NKX2.2阳性。在100％的ES和单例间充质软骨肉瘤中观察到CD99阳性。5例(100%)神经母细胞瘤CD99阴性。
未经批准：提出的研究，这是印度肿瘤学中心的第一个，显示NKX2.2IHC在正确的临床病理背景下诊断ES相当可靠。NKX2.2IHC诊断ES具有显著的敏感性和特异性,我们认为CD99和NKX2.2IHC的联合阳性可以消除或最小化EWSR1基因重排分子检测诊断ES的需要。
UNASSIGNED: Ewing sarcoma (ES) are malignant small round cell tumors (MSRCT) characterized by rearrangements of EWSR1 gene. Although gold standard for diagnosis is detection of specific fusion genes by molecular testing, these ancillary tests are costly and only available in limited number of settings. There is a persuasive evidence for reliability of NKX2.2 immunohistochemistry (IHC) as a surrogate marker for EWSR1 gene rearrangement in ES.
UNASSIGNED: The aim of this
study is to correlate the
NKX2.2 immuno-expression with genetically confirmed ES cases and also to assess the reliability and accuracy of NKX2.2 along with combined positivity of NXX2.2 and CD99 in diagnosing ES and differentiating it from other relevant histological mimics.
UNASSIGNED: The present
study is a retrospective
study conducted over a period of 6-year duration in a tertiary cancer care center.
UNASSIGNED: We evaluated NKX2.2 immunoexpression in 35 genetically confirmed cases of ES and also in pertaining differential entities (n = 58) of ES including rhabdomyosarcoma (n = 20), lymphoblastic lymphoma (n = 14), Wilms tumor (n = 10), poorly differentiated synovial sarcoma (n = 4), small-cell osteosarcoma (n = 4), neuroblastoma (n = 5), and mesenchymal chondrosarcoma (n = 1). CD99 was performed in the category of MSRCTs showing NKX2.2 positivity to evaluate combined specificity for the diagnosis of ES.
UNASSIGNED: Of the 35 genetically confirmed cases of ES, 29 cases (83%) showed NKX2.2-positive expression (83% sensitivity). Compared to ES,
NKX2.2 was positive in only 05% cases (3/58 cases) of non-ES MSRCT. Only two of five cases of neuroblastomas and one case of mesenchymal chondrosarcoma showed NKX2.2 positivity. CD99 positivity was seen in 100% of ES and in the single case of mesenchymal chondrosarcoma. All five cases (100%) of neuroblastoma were negative for CD99.
UNASSIGNED: The presented
study, which is the first from an Indian oncology center, showed
NKX2.2 IHC is quite reliable in diagnosis of ES in the right clinicopathological context. With remarkable sensitivity and specificity of NKX2.2 IHC for diagnosis of ES, we propose that combined positivity of CD99 and NKX2.2 IHC can obviate or minimize the need of EWSR1 gene rearrangement molecular testing for diagnosis of ES.
