鼻腔鼻窦NUT基因相关性癌临床和影像学特征分析

Imaging and clinical features of NUT gene-related carcinoma in the nasal cavity and sinus

目的分析5例鼻腔鼻窦NUT基因相关性癌(NUT中线癌)临床及影像学表现。方法回顾性分析2016年1月至2020年12月间首都医科大学附属北京同仁医院经免疫组化病理证实的5例鼻腔鼻窦NUT中线癌患者。男1例、女4例,年龄15~48岁,中位年龄19岁。术前均接受CT和MR检查,收集患者临床资料。观察肿瘤位置、CT密度、骨质改变、钙化、肿瘤大小、T1WI及T2WI信号、扩散加权成像(DWI)信号及表观扩散系数(ADC)、动态增强扫描时间-信号强度曲线(TIC)类型。随访患者治疗和预后情况。结果 5例NUT中线癌均为T4期,发生于鼻腔、筛窦、蝶窦、上颌窦1例,鼻腔、上颌窦1例,鼻腔、筛窦3例。CT呈等密度3例,密度不均匀伴局部坏死2例;钙化3例;骨质侵蚀4例,骨质侵蚀伴骨质破坏1例。MRI横断面最大径4.2~4.9 cm,中位数4.5 cm。与邻近颞肌相比,T1WI呈等信号5例,2例局部可见低信号;T2WI呈等信号3例,2例呈稍高信号。增强后强化不均匀,轻度强化3例,中等强化2例。TIC Ⅲ型(速升流出型)3例,Ⅱ型(速升平台型)2例。DWI信号均不同程度增高,ADC值为0.63×10-3~1.17×10-3 mm2/s,中位数0.84×10-3 mm2/s。病理Ki-67增殖指数为30%~80%,免疫组化均为NUT阳性、INI-1阳性。5例NUT中线癌1例行活检后化疗,其余4例均行手术加放疗,1例合并化疗。随访时间7~16个月,均带病存活。结论 NUT中线癌是一种鼻腔鼻窦少见的基因相关恶性实体肿瘤,多见于年轻患者,以鼻腔及筛窦多见,侵袭性生长,CT钙化多见,MRI增强后不均匀轻度强化为其特点。

Objective To assess the clinical and imaging features of NUT gene-related sinonasal carcinomas(NUT midline carcinome).Methods The clinical data and pretreatment imaging findings of 5 cases with pathologically proven NUT sinonasal carcinomas were analyzed retrospectively in Beijing Tongren Hospital,Capital Medical University from January 2016 to December 2020.Of 5 cases,the tumors affected 4 females and 1 male with an age range of 15 to 48 years(median 19 years).Clinical data of all cases were available before surgery with both CT and MR examination.Tumor location,CT density,boney change,calcification,tumor size,T1WI,T2WI and diffusion weighted imaging(DWI)signal intensity,appearance diffusion coefficient(ADC),type of time intensity curve(TIC)of dynamic contrast-enhanced(DCE)-MRI were evaluated.Results All five cases belonged to T4 stage of the clinic TNM system.The locations were nasal cavity ethmoid,sphenoid and maxillary sinus(n=1),nasal and maxillary sinus(n=1),nasal cavity and ethmoid sinus(n=3).Iso-attenuated in 3 cases,heterogeneous with local necrosis in 2 cases,and heterogeneous with calcification in 3 cases on CT imaging.Bone erosion was found in 4 cases,and bone erosion with destruction in 1 case.The tumor sizes ranged from 4.2 to 4.9 cm(median 4.5 cm)on MR axial imaging.On T1WI,5 cases showed isointense compared with adjacent temporal muscles,with focal hypointense in 2 cases.On T2WI,the tumor was graded as isointense in 3 cases,and hyperintense in 2 cases.Heterogeneous enhancement in all cases with mild in 3 cases,and moderate in 2 cases on postcontrast MR imaging.On DCE-MRI of 5 cases,there were 3 cases of typeⅢ(washout-shaped curves),and 2 cases of typeⅡof the TIC(plateau-shaped curves).The range of ADC values was from 0.63×10-3 to 1.17×10-3 mm2/s,and median ADC value was 0.84×10-3 mm2/s,of 5 cases with varying degrees of high signal on DWI.The Ki-67 index ranged from 30%to 80%of the tumor.An immunohistochemical study showed that the tumor cells of 5 cases were all positive for both NUT and INI-1 genes.One case was performed with biopsy and followed by chemotherapy,four cases were performed with surgery,combined with the following chemotherapy,and one also was implemented with radiation therapy.The follow-up time was 7-16 months.Five cases were all alive during the follow-up.Conclusions The NUT midline sinonasal tract carcinoma is a rare,gene-related solid malignant tumor.The tumor is more commonly seen in young patients,mostly centered in the nasal and ethmoid region with invasive growth,more calcification on CT,and heterogeneous enhancement on MRI.These findings are some characteristics of the tumor.