Department of Pathology, Westchester Medical Center/New York Medical College, Valhalla, NY USA.
Henan Tumor Hospital, Zhengzhou University, Zhengzhou, China.
Exp Hematol Oncol. 2015 Jan 14;4:2. doi: 10.1186/2162-3619-4-2. eCollection 2015.
Small cell carcinoma (SmCC) is a distinct clinicopathological entity first described in the lung. It represents approximately 15% of all bronchogenic carcinoma. Extrapulmonary small cell carcinoma (EPSmCC) morphologically indistinguishable from small cell lung cancer (SCLC) was first reported in 1930. Since its first description, EPSmCC has been reported in virtually all anatomical sites, including: gynecologic organs (ovary and cervix); genitourinary organs (urinary bladder and prostate); the gastrointestinal tract (esophagus); skin (Merkel cell carcinoma) and head and neck region. Regardless of the anatomic sites, all SmCCs have similar, if not identical, histo-pathology features and immunohistochemical profile. SmCC is one of the most aggressive malignancies. The molecular mechanisms underlying its development and progression remain poorly understood. Herein, we reviewed the literature in SmCC in respect to its site of occurrence, clinical features, immunohistochemical characteristics. SmCCs have heterogeneous molecular mutations. Dinstinct genetic alterations associated with SmCC from different body sites were reviewed. Some genetic alterations such as RB1, TP53 are commonly seen in different origins of SmCC. Other genes with site specificity were also summarized, such as bladder SmCC with TERT promoter mutations; prostate SmCC with ERG translocations; ovarian SmCC with SMARCA4 mutations; Merkel cell carcinoma (skin) and cervical SmCC with Merkel cell polyomavirus (MCV or MCPyV) and human papillomavirus (HPV). Further studies are needed to employ a genetically oriented approach for the diagnosis and therapy of SmCC.
小细胞癌（SmCC）是一种独特的临床病理实体，最初在肺部描述。它约占所有支气管源性癌的 15%。1930 年首次报道了与小细胞肺癌（SCLC）形态上无法区分的肺外小细胞癌（EPSmCC）。自首次描述以来，EPSmCC 已在几乎所有解剖部位报道，包括：妇科器官（卵巢和子宫颈）；泌尿生殖器官（膀胱和前列腺）；胃肠道（食管）；皮肤（默克尔细胞癌）和头颈部。无论解剖部位如何，所有 SmCC 都具有相似的组织病理学特征和免疫组织化学特征。SmCC 是最具侵袭性的恶性肿瘤之一。其发展和进展的分子机制仍知之甚少。在此，我们就 SmCC 的发病部位、临床特征、免疫组织化学特征等方面的文献进行了综述。SmCC 具有异质性的分子突变。不同部位 SmCC 的独特遗传改变进行了综述。一些遗传改变，如 RB1、TP53，在不同起源的 SmCC 中都很常见。还总结了其他具有部位特异性的基因，如膀胱 SmCC 中的 TERT 启动子突变；前列腺 SmCC 中的 ERG 易位；卵巢 SmCC 中的 SMARCA4 突变；默克尔细胞癌（皮肤）和宫颈 SmCC 中的 Merkel 细胞多瘤病毒（MCV 或 MCPyV）和人乳头瘤病毒（HPV）。需要进一步研究以采用基于遗传的方法诊断和治疗 SmCC。
