PDF(Pubmed)
Abstract：
Background Round cell sarcomas pose diagnostic challenges due to overlapping histopathological features, necessitating precise immunohistochemical markers for accurate categorization. NKX2.2 has emerged as a sensitive diagnostic tool, particularly in Ewing sarcoma. This study extends this understanding to various round-cell sarcomas, shedding light on the potential diagnostic utility of NKX2.2 beyond its established role. The nuanced exploration of NKX2.2 expression aims to enhance diagnostic strategies, prognostic assessments, and therapeutic developments in the landscape of sarcoma research. Methodology Cases were retrieved from the surgical pathology and consultation files of Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore, Pakistan. Representative hematoxylin and eosin-stained slides of six different types of already confirmed tumors, including lymphoblastic lymphoma, neuroblastoma, rhabdomyosarcoma, synovial sarcoma, Wilms tumor, and Ewing sarcoma, were reviewed by a panel of pathologists. Immunohistochemistry, utilizing a rabbit anti-NKX2.2 monoclonal antibody, was performed on formalin-fixed paraffin-embedded tissue sections. The presence of NKX2.2 was defined as moderate or high nuclear immunoreactivity in at least 5% of cells. Results The histopathological examination revealed characteristic features in each sarcoma subtype, aligning with established diagnostic criteria. In Lymphoblastic lymphoma, T-cell lineage was confirmed through TdT expression, while the atypical finding of focal NKX 2.2 expression hinted at genetic diversity. Neuroblastoma exhibited the expected salt and pepper chromatin pattern, with NKX 2.2 expression raising questions about its prognostic significance. Rhabdomyosarcoma presented primitive cells expressing desmin, and NKX 2.2 focal expression echoed previous subtype-associated studies. Synovial sarcoma displayed both monophasic and biphasic growth patterns and TLE1 expression, with NKX 2.2 variation suggesting tumor heterogeneity. In Wilms tumor, the characteristic WT1 expression was observed, while NKX2.2\'s absence reaffirmed its irrelevance in this context. Ewing sarcoma displayed the anticipated homogenous cell population, strong NKX2.2 expression, and CD99 positivity across various sites. Furthermore, age and gender impact on this range of sarcomas found no significant relation with an expression of NKX2.2. Conclusion In conclusion, the diverse expression profiles of diagnostic markers discovered in this study, particularly the atypical expression of NKX2.2 beyond its established role in Ewing sarcoma, signify a significant advancement. This unique finding accentuates the potential diagnostic importance of NKX2.2 in various sarcomas, presenting a novel dimension to our understanding of these malignancies.
摘要：
背景由于重叠的组织病理学特征，圆形细胞肉瘤构成了诊断挑战，需要精确的免疫组织化学标记以进行准确的分类。NKX2.2已经成为一种敏感的诊断工具，尤其是尤因肉瘤.这项研究将这种理解扩展到各种圆形细胞肉瘤，阐明了NKX2.2超越其既定作用的潜在诊断效用。NKX2.2表达的细微差别探索旨在增强诊断策略，预后评估，以及肉瘤研究领域的治疗进展。方法从ShaukatKhanum纪念肿瘤医院和研究中心的手术病理和咨询档案中检索病例，拉合尔,巴基斯坦。6种不同类型已确诊肿瘤的代表性苏木精和伊红染色载玻片，包括淋巴母细胞淋巴瘤,神经母细胞瘤,横纹肌肉瘤,滑膜肉瘤,肾母细胞瘤，和尤因肉瘤,由病理学家小组审查。免疫组织化学,利用兔抗NKX2.2单克隆抗体，在福尔马林固定的石蜡包埋的组织切片上进行。NKX2.2的存在被定义为在至少5%的细胞中中等或高的核免疫反应性。结果组织病理学检查显示每个肉瘤亚型的特征性特征，符合既定的诊断标准。在淋巴母细胞淋巴瘤中，通过TdT表达证实了T细胞谱系，而局灶性NKX2.2表达的非典型发现暗示了遗传多样性。神经母细胞瘤表现出预期的盐和胡椒染色质模式，NKX2.2的表达引发了对其预后意义的质疑。横纹肌肉瘤呈现表达结蛋白的原始细胞，NKX2.2局灶性表达与以前的亚型相关研究相呼应。滑膜肉瘤显示单相和双相生长模式和TLE1表达，NKX2.2变异提示肿瘤异质性。在Wilms肿瘤中，观察到特征性WT1表达，而NKX2.2的缺席重申了它在这种情况下的无关紧要。尤因肉瘤显示预期的同质细胞群，强NKX2.2表达，和CD99阳性在不同的网站。此外，年龄和性别对该范围肉瘤的影响与NKX2的表达没有显着关系。结论总之,在这项研究中发现的诊断标志物的不同表达谱，特别是NKX2.2的非典型表达超出了其在尤文肉瘤中的既定作用，标志着重大进步。这一独特的发现强调了NKX2.2在各种肉瘤中的潜在诊断重要性，为我们对这些恶性肿瘤的理解提供了一个新的维度。
