背景:低级别乳头状Schneiderian癌(LGPSC)是一种相对较新的鼻窦道实体,其特征是模拟鼻窦乳头状瘤的形态学平淡,具有推动边界的侵入性生长模式,以及具有多次复发和转移潜力的侵袭性临床行为。最近,DEK::在LGPSC中鉴定了AFF2融合体。然而,一些LPGSCs缺乏DEK::AFF2融合,这些肿瘤的分子特征尚未明确。
方法:一名69岁的男子左脸颊流脓。计算机断层扫描显示肿块累及左上颌窦,筛窦,和鼻腔与眶壁的破坏。活检标本显示肿瘤以外生性为主,乳头状生长,没有明显的基质侵入。肿瘤由多层上皮组成,形态温和,呈圆形至多边形,丰富的嗜酸性细胞浆,和统一的原子核。集中存在密集的嗜中性粒细胞浸润。免疫组织化学,CK5/6呈强烈和弥漫性阳性,p16为阴性。p63在基底层主要呈阳性,EMA主要在最外层细胞层表达。基于DNA的靶向测序显示TP53R175H突变,而未发现EGFR和KRAS突变.逆转录聚合酶链反应和荧光原位杂交未发现DEK::AFF2融合。
结论:我们描述了TP53突变LGPSC的首例病例,并回顾了文献。LGPSC是一个遗传异质性实体,对这种罕见实体的认识以及对临床病理和分子检查结果的全面评估对于正确的病理诊断和临床管理至关重要。
BACKGROUND: Low-grade papillary Schneiderian carcinoma (LGPSC) is a relatively new entity of the sinonasal tract and is characterized by a bland morphology simulating sinonasal papilloma, invasive growth pattern with pushing borders, and aggressive clinical behavior with multiple recurrences and metastatic potential. Recently, DEK::AFF2 fusions were identified in LGPSC. However, some LPGSCs lack DEK::AFF2 fusion, and the molecular features of these tumors have not been clarified.
METHODS: A 69-year-old man presented with a discharge of pus from his left cheek. Computed tomography revealed a mass involving the left maxillary sinus, ethmoid sinus, and nasal cavity with the destruction of the orbital wall. The biopsy specimens showed that the tumor had a predominantly exophytic, papillary growth and did not have an apparent stromal invasion. The tumor was composed of multilayered epithelium that showed bland morphology with a round to polygonal shape, abundant eosinophilic cytoplasm, and uniform nuclei. Dense neutrophilic infiltrates were focally present. Immunohistochemically, CK5/6 was strongly and diffusely positive, and p16 was negative. p63 was mainly positive in the basal layer, and EMA was predominantly expressed in the outermost cell layer. DNA-based targeted sequencing showed TP53 R175H mutation, whereas neither EGFR nor KRAS mutation was identified. Reverse transcription polymerase chain reaction and fluorescence in situ hybridization revealed no DEK::AFF2 fusion.
CONCLUSIONS: We describe the first case of TP53-mutant LGPSC and
review the literature. LGPSC is a genetically heterogeneous entity, and the recognition of this rare entity and comprehensive assessment of clinicopathological and molecular findings are crucial for the correct pathological diagnosis and clinical management.