Primary Pulmonary NUT Midline Carcinoma: Clinical, Radiographic, and Pathologic Characterizations.
Primary Pulmonary NUT Midline Carcinoma: Clinical, Radiographic, and Pathologic Characterizations.
复制标题
DOI：
10.1097/jto.0000000000000545
复制
发表时间：
2015-06
期刊：
影响因子：
--
通讯作者：
Lathan C
中科院分区：
文献类型：
--
作者：
Sholl LM;Nishino M;Pokharel S;Mino-Kenudson M;French CA;Janne PA;Lathan C
NUT中线癌（NMC）是一种低分化肿瘤，通常由导致NUT融合事件的t（15;19）重排驱动。这种罕见且一致致命的肿瘤发生在多个器官部位，然而原发性肺NMC的临床、影像学和病理学特征尚不清楚。我们在四年的咨询实践中确定了8例原发性肺NMC，并使用NUT免疫组化筛选，回顾性地从166例（0.6%）连续的内部肺癌活检中确定了1例缺乏腺分化的病例。8例病例有可用的临床和影像学资料，具有显著的相似性。就诊时的中位年龄为30岁（范围21-68岁）。6例患者很少或没有吸烟史。所有患者均主诉就诊时咳嗽1至3个月。计算机断层扫描显示一个大的，位于中心的原发性肿块，融合累及纵隔淋巴结，胸膜疾病，对侧肺保留。溶解性骨转移是常见的，但脑转移在所有情况下缺席。病理学上，所有病例均表现为连续出现的圆形至上皮样细胞，呈巢状和片状生长。所有肿瘤均表达角蛋白、p63或p40和NUT蛋白。8例经FISH证实为BRD 4-NUT或BRD 3-NUT重排; 1例推测为NUT变异融合事件。中位总生存期为2.2个月。尽管原发性肺NMC很罕见，但重要的是要认识到这一实体，以便就结局向患者提供咨询，并确定目前临床试验中靶向BRD抑制剂的候选药物。
NUT midline carcinoma (NMC) is a poorly differentiated tumor typically driven by a t(15;19) rearrangement leading to a NUT fusion event. This rare and uniformly fatal tumor arises in multiple organ sites, however the clinical, radiographic, and pathologic characteristics of primary pulmonary NMC are poorly defined. We identified eight cases of primary pulmonary NMC in our consult practice over four years and, using a NUT immunohistochemistry screen, retrospectively identified one additional case from 166 (0.6%) consecutive in-house biopsies of lung carcinomas lacking glandular differentiation. Eight cases had available clinical and radiographic data and shared a remarkable degree of similarity. The median age at presentation was 30 (range 21-68). Six patients had little or no smoking history. All complained of one to three months of cough at presentation. Computed tomography scans showed a large, centrally-located primary mass with confluent involvement of mediastinal lymph nodes, pleural disease, and sparing of the contralateral lung. Lytic bone metastases were common but brain metastases were absent in all cases. Pathologically, all cases showed primitive-appearing round to epitheloid cells growing in nests and sheets. All tumors expressed keratin, p63 or p40, and NUT protein. Eight cases had a FISH-proven BRD4-NUT or BRD3-NUT rearrangement; one case was presumed to have a NUT-variant fusion event. Median overall survival was 2.2 months. Despite the rarity of primary pulmonary NMC, it is important to recognize this entity in order to counsel patients regarding outcome and to identify candidates for targeted BRD inhibitors currently in clinical trials.