el-Kattan I, Redline R W, el-Naggar A K, Grimes M C, Abdul-Karim F W
Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106, USA.
Acta Cytol. 1995 May-Jun;39(3):514-20.
Intraabdominal desmoplastic small round cell tumor (IAD-SRCT) is a highly aggressive, malignant neoplasm that affects predominantly young adult males. This report describes the fine needle aspiration and ascitic fluid cytology findings in a 15-year-old male with IAD-SRCT. The tumor cells consisted of small, round to oval cells with a scant amount of basophilic cytoplasm. No cytologic evidence of cellular differentiation was identified. The similarities of cytologic features with other small round cell tumors in the pediatric age group may lead to differential diagnostic difficulties that require the application of ancillary diagnostic methods, such as immunohistochemistry, electron microscopy and cytogenetic techniques. In this case, immunohistochemical stains were positive for cytokeratin, desmin and neuron-specific enolase. Flow cytometry revealed a tetraploid DNA stemline and proliferation index of 21% (S + G2M). Ultrastructural examination revealed undifferentiated small cells with large, perinuclear whorls of intermediate filaments. Cytogenetic studies showed a grossly abnormal karyotype with a t(11;17)(p13;q11.2) translocation and a near-tetraploid modal chromosome number. This karyotype differed from those in previous cases in that it lacked a 22q12-13 fusion partner but provided further evidence for involvement of the 11p13 region in the pathogenesis of this unusual tumor.
腹腔促结缔组织增生性小圆细胞肿瘤（IAD - SRCT）是一种侵袭性很强的恶性肿瘤，主要影响年轻成年男性。本报告描述了一名患有IAD - SRCT的15岁男性的细针穿刺抽吸及腹水细胞学检查结果。肿瘤细胞由小的、圆形至椭圆形细胞组成，嗜碱性细胞质含量稀少。未发现细胞分化的细胞学证据。该细胞学特征与儿童年龄组其他小圆细胞肿瘤的相似性可能导致鉴别诊断困难，这需要应用辅助诊断方法，如免疫组织化学、电子显微镜和细胞遗传学技术。在这个病例中，免疫组织化学染色显示细胞角蛋白、结蛋白和神经元特异性烯醇化酶呈阳性。流式细胞术显示四倍体DNA干系及21%（S + G2M）的增殖指数。超微结构检查显示未分化的小细胞，中间丝在核周形成大的涡旋。细胞遗传学研究显示核型严重异常，存在t(11;17)(p13;q11.2)易位及近四倍体的众数染色体数。该核型与先前病例不同之处在于它缺乏22q12 - 13融合伴侣，但为11p13区域参与这种罕见肿瘤的发病机制提供了进一步证据。
