PDF(Pubmed)
Abstract：
FUS::CREM fusion is a distinct primary driver in rare neoplasms of the head and neck and other anatomic sites. Herein, we describe the clinicopathological, imaging, and molecular features of a malignant epithelioid mesenchymal neoplasm harboring FUS::CREM fusion, arising in the tongue of a 46-year-old male. Clinically, the patient presented with a left upper neck mass. Imaging revealed a 4.0 cm mass at the left base of tongue. Histologically, the tumor consisted of sheets of loosely cohesive, small round to ovoid cells with moderate cytoplasm, small nuclei with coarse chromatin, frequent nuclear pseudoinclusions, and dense peripheral lymphoplasmacytic and histiocytic infiltrates. Malignant features, including tumor necrosis, perineural invasion, and increased mitotic activity were observed; however, lymphovascular invasion was absent with no evidence metastatic disease in the examined lymph nodes. A comprehensive panel of immunohistochemical stains showed positivity for synaptophysin and ALK, with negative results for all other markers. RNA-based next-generation sequencing using anchored multiplex polymerase chain reaction (PCR) was performed and detected FUS::CREM fusion gene. The patient was treated by excision and postsurgical chemoradiation with no evidence of recurrence after four months. Additional cases supported by comprehensive clinical data collected over an extended period are necessary to precisely characterize epithelioid mesenchymal neoplasms harboring FUS::CREM fusion in the head and neck.
摘要：
FUS：CREM融合是头颈部和其他解剖部位罕见肿瘤的独特主要驱动因素。在这里，我们描述了临床病理，成像,具有FUS的恶性上皮样间充质肿瘤的分子特征：：CREM融合，出现在一名46岁男性的舌头上。临床上,患者出现左上颈部肿块。成像显示舌根左侧有4.0厘米的肿块。组织学上,肿瘤由松散粘性的薄片组成，具有中等细胞质的小圆形至卵圆形细胞，染色质粗糙的小细胞核，频繁的核假包裹体，和密集的外周淋巴浆细胞和组织细胞浸润。恶性特征，包括肿瘤坏死,神经周浸润,并观察到有丝分裂活性增加；然而，在检查的淋巴结中没有淋巴血管侵犯，没有证据表明有转移性疾病。一组完整的免疫组织化学染色显示突触素和ALK阳性，与所有其他标记的阴性结果。使用锚定多重聚合酶链反应(PCR)进行基于RNA的下一代测序并检测FUS::CREM融合基因。患者接受切除和术后放化疗治疗，四个月后无复发迹象。在长期收集的全面临床数据支持的其他病例对于精确表征头颈部具有FUS::CREM融合的上皮样间充质肿瘤是必要的。
