Thompson Elizabeth D, Stelow Edward B, Mills Stacey E, Westra William H, Bishop Justin A
Departments of *Pathology ‡Otolaryngology/Head and Neck Surgery §Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD †Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA.
Am J Surg Pathol. 2016 Apr;40(4):471-8. doi: 10.1097/PAS.0000000000000580.
Large cell neuroendocrine carcinoma (LCNEC) is a high-grade neuroendocrine neoplasm first described in the lung and subsequently well documented in many other anatomic sites. It has only recently been recognized that LCNEC can also occasionally arise in the head and neck. The role of human papillomavirus (HPV), which is associated with some small cell carcinomas of the head and neck, has not been investigated for LCNEC. We sought to further characterize the histologic, immunophenotypic, and clinical features of LCNEC and also investigate the role of HPV in this newly described group of tumors. The surgical pathology archives of 2 large academic institutions were searched for cases of LCNEC arising in the head and neck. p16 immunohistochemistry and HPV in situ hybridization were performed, and clinical information was obtained from electronic medical records. Ten cases of head and neck LCNEC were identified. The tumors arose in 6 men and 4 women ranging in age from 14 to 70 years (median, 63.5 y). The primary tumor sites were the oropharynx (n=4), the sinonasal tract (n=3), and the larynx (n=3). The LCNECs consisted of nests and trabeculae of medium-large cells with abundant cytoplasm, coarse chromatin, and prominent nucleoli with very high mitotic rates. The tumor nests were often associated with necrosis, peripheral palisading, and rosette formations. The LCNECs were positive for pan-cytokeratin and at least 1 neuroendocrine marker (most often synaptophysin) and were largely negative for p63 (focal staining in 2/10) and CK5/6 (staining in 1/10). The LCNECs demonstrated aggressive clinical behavior: 8 of 10 presented with advanced disease, 5 of 10 died, with 4 more living but with persistent tumor. Three of 10 LCNECs were HPV-related (HPV-LCNEC); they arose in the oropharynx (n=2) and sinonasal tract (n=1). The HPV-LCNECs did not differ from the HPV-negative tumors in histologic appearance or behavior: 2 patients with HPV-LCNEC have died because of their disease and 1 remains alive but with widespread metastases. LCNEC is a rare but distinct form of head and neck carcinoma that exhibits aggressive clinical behavior. A subset of oropharyngeal and sinonasal LCNEC is HPV related, but the presence of HPV may not impart a more favorable prognosis. Because of its aggressive behavior, LCNEC should be distinguished from moderately differentiated neuroendocrine carcinoma and squamous cell carcinoma. The morphology of LCNEC overlaps considerably with the nonkeratinizing appearance of HPV-related squamous cell carcinoma, and as a result a high index of suspicion is needed to identify LCNEC. Immunohistochemical studies for synaptophysin and p63 are helpful tools for making this distinction.
大细胞神经内分泌癌(LCNEC)是一种高级别神经内分泌肿瘤,最初在肺部被描述,随后在许多其他解剖部位也有详细记录。直到最近才认识到LCNEC偶尔也可发生于头颈部。人乳头瘤病毒(HPV)与一些头颈部小细胞癌有关,但尚未对LCNEC进行相关研究。我们试图进一步描述LCNEC的组织学、免疫表型和临床特征,并研究HPV在这组新描述的肿瘤中的作用。检索了2家大型学术机构的外科病理档案,以查找头颈部发生的LCNEC病例。进行了p16免疫组化和HPV原位杂交,并从电子病历中获取临床信息。共鉴定出10例头颈部LCNEC。肿瘤发生于6名男性和4名女性,年龄范围为14至70岁(中位年龄63.5岁)。原发肿瘤部位为口咽(n = 4)、鼻窦道(n = 3)和喉(n = 3)。LCNEC由中等大小细胞的巢状和小梁状结构组成,细胞浆丰富,染色质粗糙,核仁突出,有很高的有丝分裂率。肿瘤巢常伴有坏死、周边栅栏状排列和菊形团形成。LCNEC对泛细胞角蛋白和至少1种神经内分泌标志物(最常见的是突触素)呈阳性,对p63(2/10局灶性染色)和CK5/6(1/10染色)大多为阴性。LCNEC表现出侵袭性临床行为:10例中有8例表现为晚期疾病,10例中有5例死亡,另有4例存活但有持续性肿瘤。10例LCNEC中有3例与HPV相关(HPV-LCNEC);它们发生于口咽(n = 2)和鼻窦道(n = 1)。HPV-LCNEC在组织学外观或行为上与HPV阴性肿瘤无差异:2例HPV-LCNEC患者因疾病死亡,1例仍存活但有广泛转移。LCNEC是一种罕见但独特的头颈部癌,表现出侵袭性临床行为。口咽和鼻窦LCNEC的一个亚组与HPV相关,但HPV的存在可能不会带来更有利的预后。由于其侵袭性行为,LCNEC应与中分化神经内分泌癌和鳞状细胞癌相鉴别。LCNEC的形态与HPV相关鳞状细胞癌的非角化外观有很大重叠,因此需要高度怀疑才能识别LCNEC。突触素和p63的免疫组化研究是进行这种区分的有用工具。