Amrikachi Mojghan, Ro Jae Y, Ordonez Nelson G, Ayala Alberto G
Department of Pathology, Baylor College of Medicine, Houston, TX 77030-4009, USA.
Ann Diagn Pathol. 2002 Dec;6(6):357-63. doi: 10.1053/adpa.2002.36657.
Rhabdoid tumor, first described in kidneys of infants and children, is an aggressive tumor that has been reported in several extrarenal locations. Gastrointestinal tumors with rhabdoid features are extremely rare. The effect of the rhabdoid phenotype on the aggressiveness of gastrointestinal tumors remains unclear. We present four cases of rhabdoid tumors of the gastrointestinal tract involving the esophagus, stomach, and small intestine and discuss the clinicopathologic, immunohistochemical, and ultrastructural features. In the four cases reported herein, the patients' ages ranged from 52 to 73 years, and tumor size ranged from 3.8 to 13 cm in greatest dimension. The noncohesive rhabdoid cells exhibited an eccentric nucleus with a paranuclear inclusion, which was shown by electron microscopic examination to be composed of intermediate filaments. On immunohistochemical staining, the tumor cells were positive for vimentin and cytokeratin. Three patients developed distant metastasis shortly after diagnosis and died of disease within 2 to 10 months after initial presentation. A retrospective review of outcomes of the current cases and previously published literature showed that 12 (75%) of the 16 patients died within 6 months of presentation. Recognition of the rhabdoid phenotype in gastrointestinal tract neoplasms is important because this feature is associated with poor prognosis and unresponsiveness to conventional therapy.
横纹肌样瘤最早在婴幼儿肾脏中被描述，是一种侵袭性肿瘤，已报道出现在多个肾外部位。具有横纹肌样特征的胃肠道肿瘤极为罕见。横纹肌样表型对胃肠道肿瘤侵袭性的影响尚不清楚。我们报告了4例累及食管、胃和小肠的胃肠道横纹肌样瘤病例，并讨论其临床病理、免疫组化和超微结构特征。在本文报告的4例病例中，患者年龄在52岁至73岁之间，肿瘤最大直径在3.8厘米至13厘米之间。松散的横纹肌样细胞呈现偏心核及核旁包涵体，电镜检查显示其由中间丝组成。免疫组化染色显示，肿瘤细胞波形蛋白和细胞角蛋白呈阳性。3例患者在诊断后不久发生远处转移，在初次就诊后2至10个月内死于该疾病。对当前病例和既往发表文献的结果进行回顾性分析显示，16例患者中有12例（75%）在就诊后6个月内死亡。认识胃肠道肿瘤中的横纹肌样表型很重要，因为这一特征与预后不良及对传统治疗无反应相关。
