Bissig Heidi, Staehelin Franziska, Tolnay Markus, Avoledo Pierino, Richter Jan, Betts David, Bruder Elisabeth, Kühne Thomas
Division of Hematology/Oncology, University Children's Hospital Basel, Basel, Switzerland.
Hum Pathol. 2002 Oct;33(10):1047-51. doi: 10.1053/hupa.2002.128062.
We report the clinical, histologic, and genetic findings of concurrent neuroblastoma and nephroblastoma in an infant with Fanconi's anemia (FA). Both tumors had characteristic chromosomal aberrations. In particular, the neuroblastoma showed a gain of chromosome 17q, considered an important factor for prognosis. But untypical genetic changes were also seen suggesting that FA as a chromosomal instability syndrome causes new and untypical chromosomal variations in different tumors. The present case is unique because the simultaneous occurrence of a neuroblastoma and nephroblastoma with FA has not yet been described.
我们报告了一名患有范可尼贫血（FA）的婴儿同时发生神经母细胞瘤和肾母细胞瘤的临床、组织学和遗传学发现。两种肿瘤都有特征性的染色体畸变。特别是，神经母细胞瘤显示17号染色体长臂增加，这被认为是预后的一个重要因素。但也观察到非典型的基因变化，提示FA作为一种染色体不稳定综合征可导致不同肿瘤出现新的非典型染色体变异。本病例独特，因为此前尚未描述过FA同时合并神经母细胞瘤和肾母细胞瘤的情况。
