Department of Pathology, University of Alabama at Birmingham, 35233, USA.
Adv Anat Pathol. 2010 Jan;17(1):1-11. doi: 10.1097/PAP.0b013e3181bb6b9c.
Bone tumors are fortunately rare, but small cell tumors of bone are a relatively common subset of these lesions. They comprise of a diverse group of primary and metastatic neoplasms in both children and adults. The most common small cell tumors of bone include Ewing sarcoma/primitive neuroectodermal tumor, small cell osteosarcoma, multiple myeloma, lymphoma, leukemia, neuroblastoma, rhabdomyosarcoma, and Langerhans cell histiocytosis. Although each entity has its distinctive features, the differential diagnosis of this group of tumors is still challenging because they are all "small, blue, and round cell tumors", histologically. The correct diagnosis of small cell tumors of bone depends on an evaluation of clinical, radiologic, pathologic, and genetic features. Patients' age and sex are very important, as are the signs and symptoms at presentation. Radiologically, which bone is involved, the specific portion of the bone (epiphysis, metaphysis, or diaphysis; cortex vs. medulla) involved, and the radiographic manifestations (lytic, blastic, or mixed lytic and blastic) are also often critical parameters for the diagnosis. In recent years, with a better understanding of the molecular and cytogenetic background of several small cell tumors, more accurate diagnoses have been supported by the clinicopathologic criteria and by a panel of immunohistochemical studies. In this review we will provide an overview of the clinical, radiologic, pathologic, and genetic characteristics of these tumors.
骨肿瘤是罕见的，但骨的小细胞肿瘤是这些病变中相对常见的亚群。它们包括儿童和成人的原发性和转移性肿瘤的一个多样化的群体。最常见的骨小细胞肿瘤包括尤文肉瘤/原始神经外胚层肿瘤、骨小细胞肉瘤、多发性骨髓瘤、淋巴瘤、白血病、神经母细胞瘤、横纹肌肉瘤和朗格汉斯细胞组织细胞增生症。尽管每种肿瘤都有其独特的特征，但由于它们都是“小、蓝、圆形细胞肿瘤”，因此该组肿瘤的鉴别诊断仍然具有挑战性。骨小细胞肿瘤的正确诊断取决于对临床、放射学、病理学和遗传学特征的评估。患者的年龄和性别非常重要，临床表现的症状和体征也是如此。放射学上，受累的是哪块骨头，受累的是骨头的哪个特定部位（骨骺、干骺端或骨干；皮质与髓腔），以及放射学表现（溶骨性、成骨性或混合溶骨性和成骨性）通常也是诊断的关键参数。近年来，随着对几种小细胞肿瘤的分子和细胞遗传学背景的更好理解，临床病理标准和一系列免疫组织化学研究支持了更准确的诊断。在这篇综述中，我们将概述这些肿瘤的临床、放射学、病理学和遗传学特征。
