Lee A C, Kwong Y I, Fu K H, Chan G C, Ma L, Lau Y L
Department of Paediatrics, Queen Mary Hospital, Hong Kong.
Cancer. 1993 Oct 1;72(7):2273-6. doi: 10.1002/1097-0142(19931001)72:7<2273::aid-cncr2820720735>3.0.co;2-u.
A case of disseminated mediastinal carcinoma probably of thymic origin is reported in a 5-year-old boy with an anterior mediastinal mass associated with superior vena cava obstruction, tracheal deviation, right malignant pleural effusion, and evidence of bone metastasis. The diagnosis was based on findings of radiologic localization, light and electron microscopic study, and immunohistochemistry. The patient received combination chemotherapy but died of progressive disease.
Cytogenic study on the pleural fluid was attempted, and a literature search for similar chromosomal aberration was performed.
Cytogenetic study of tumor cells from the pleural fluid revealed a clonal chromosomal abnormality of t(15;19)(q12;p13.1). Two patients with similar disease were reported in the English literature; their clinical courses, immunohistochemical findings, and t(15;19) were almost identical to those of the patient reported in this study.
The authors suggest that this translocation may be specific to thymic carcinoma and may indicate a particularly aggressive form of the disease. Carcinomas are rare in children, so the chromosomal translocation may serve as a helpful marker for the diagnosis.
报告一例5岁男孩，患有可能起源于胸腺的弥漫性纵隔癌，伴有前纵隔肿块，合并上腔静脉阻塞、气管移位、右侧恶性胸腔积液及骨转移证据。诊断基于放射学定位、光镜和电镜检查以及免疫组化结果。患者接受联合化疗，但死于疾病进展。
尝试对胸腔积液进行细胞遗传学研究，并检索类似染色体畸变的文献。
胸腔积液肿瘤细胞的细胞遗传学研究显示克隆性染色体异常t(15;19)(q12;p13.1)。英文文献报道了2例类似疾病患者；他们的临床病程、免疫组化结果及t(15;19)与本研究报道的患者几乎相同。
作者认为这种易位可能是胸腺癌特有的，可能提示疾病的一种侵袭性特别强的形式。儿童癌症罕见，因此该染色体易位可能有助于诊断。
