嗅神经母细胞瘤分化异常:异常病理的当代管理和文献综述。

Anil Patel, Eunice Im, Jesse Kresak, Erica Olgaard, Jason E Blatt, Brian C Lobo, Nikita Chapurin
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引用次数: 0

摘要

嗅神经母细胞瘤(ON;Esthesioneuroblastoma)是一种起源于嗅神经上皮的恶性肿瘤。在极少数情况下,嗅神经母细胞瘤在组织学上表现为双型,迄今为止仅有 7 例文献报道。我们描述了这一鲜为人知的实体病例,并回顾了患者的组织学、病理学和治疗。一名 85 岁的男性经内窥镜检查和影像学检查发现鼻窦肿块来自嗅裂。活检和进一步病理检查确定为海姆斯3级和卡迪什C期肿瘤。由于肿瘤累及鼻骨,患者接受了内窥镜和开放式联合切除术,随后接受了辅助放疗。标本含有 Flexner-Wintersteiner 花环,神经内分泌标志物突触素染色阳性,与 ON 相符。此外,还观察到第二种上皮成分模式,即小腺泡细胞和粘蛋白,这表明存在分化。我们是第一个报告该肿瘤下一代测序结果的小组,测序结果显示该肿瘤存在PIK3CA致病突变和RUNX1(AML1)致病变异。具有分化差异的ON非常罕见,对其分子驱动因素和病理特征进行更深入的研究可能有助于临床治疗。
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Olfactory Neuroblastoma With Divergent Differentiation: Contemporary Management of Unusual Pathology and Literature Review.

Olfactory neuroblastoma (ON; Esthesioneuroblastoma) is a malignant tumor that arises from the olfactory neuroepithelium. Very rarely, ON can histologically display a biphenotypic pattern, with only 7 cases reported in the literature to date. We describe a case of this poorly understood entity and review the patient's histology, pathology, and treatment. An 85-year-old man presented with endoscopy and imaging findings of a sinonasal mass arising from the olfactory cleft. Biopsy and further pathological review established Hyams grade 3 and Kadish stage C tumor. The patient underwent combined endoscopic and open-approach resection due to the involvement of the nasal bone and subsequent adjuvant radiation therapy. Specimen contained Flexner-Wintersteiner rosettes and stained positive for the neuroendocrine marker synaptophysin consistent with ON. A second, epithelial component pattern of goblet cells and mucin was observed suggesting divergent differentiation. We are the first group to report next-generation sequencing of this tumor, which revealed a pathogenic mutation in PIK3CA and a likely pathogenic variant in RUNX1 (AML1). ON with divergent differentiation is very rare, and more robust studies characterizing molecular drivers and pathology may aid in clinical management.

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