Department of Pathology, Saint Louis University School of Medicine, St Louis, MO, USA.
Department of Pathology, University of Texas Southwestern Medical Center, 6201 Harry Hines Blvd, Dallas, TX, USA.
Head Neck Pathol. 2022 Sep;16(3):928-933. doi: 10.1007/s12105-022-01432-x. Epub 2022 Feb 26.
The past decade has seen a dramatic increase in the number of new head and neck tumor entities, most of which are genetically defined. DEK::AFF2 carcinoma is one of the most recently defined neoplasms; it shows a non-keratinizing squamous morphology and occurs in the sinonasal region. We present an unusual neoplasm that was found to harbor a novel fusion involving AFF2. The case was encountered in our clinical practice. Immunohistochemistry was performed along with targeted next generation sequencing (NGS). The case presented as a metastasis to a cervical lymph node from an unknown primary, in a 49-year-old man. The tumor consisted of sheets of primitive round cells which were strongly positive for synaptophysin and chromogranin but negative for cytokeratins, S-100 protein, WT-1, desmin, and many other markers. NGS uncovered CHD4::AFF2. We found a CHD4::AFF2 fusion in a high-grade neuroendocrine tumor. Although it is just a single case, the presence of a novel fusion in a neoplasm that is otherwise not classifiable suggests that it could be a distinct entity within a possible family of AFF2-rearranged tumors. Molecular analysis should be considered for any unclassified round cell tumor in the head and neck, as additional cases will be needed to further elucidate this area.
过去十年中，新的头颈部肿瘤实体数量显著增加，其中大多数是基于遗传学定义的。DEK::AFF2 癌是最近定义的肿瘤之一；它具有非角化鳞状形态，发生在鼻窦区域。我们提出了一种不常见的肿瘤，该肿瘤被发现存在涉及 AFF2 的新型融合。该病例是在我们的临床实践中遇到的。进行了免疫组织化学检查和靶向下一代测序 (NGS)。该病例是 49 岁男性的未知原发性转移至颈部淋巴结的转移灶。肿瘤由原始圆形细胞的片层组成，这些细胞强烈表达突触素和嗜铬粒蛋白，但不表达细胞角蛋白、S-100 蛋白、WT-1、结蛋白和许多其他标志物。NGS 揭示了 CHD4::AFF2。我们在高级神经内分泌肿瘤中发现了 CHD4::AFF2 融合。尽管这只是一个单一病例，但在其他方面无法分类的肿瘤中存在新型融合表明，它可能是 AFF2 重排肿瘤家族中的一个独特实体。对于头颈部任何未分类的圆形细胞肿瘤，都应考虑进行分子分析，因为需要更多的病例来进一步阐明这一领域。
