Bardi G, Johansson B, Pandis N, Heim S, Mandahl N, Békássy A, Hägerstrand I, Mitelman F
Department of Clinical Genetics, University Hospital, Sweden.
Genes Chromosomes Cancer. 1992 Jan;4(1):78-80. doi: 10.1002/gcc.2870040111.
Short-term cultures of a fine-needle aspirate from a hepatoblastoma were analyzed cytogenetically. Trisomy 2 was found as the sole abnormality, yielding the karyotype 47,XY, + 2/46,XY. Because trisomy for all or part of chromosome 2 has been described, although together with other aberrations, in seven of the 11 hepatoblastomas hitherto reported, the finding of + 2 as the only anomaly in the present case strongly indicates that additional chromosome 2 material is of pathogenetic significance in this tumor type.
对肝母细胞瘤细针穿刺抽吸物进行了短期培养，并进行了细胞遗传学分析。发现21三体是唯一的异常，产生的核型为47，XY，+2/46，XY。因为迄今为止报道的11例肝母细胞瘤中有7例描述了全部或部分2号染色体三体，尽管同时伴有其他畸变，所以本病例中+2作为唯一异常的发现强烈表明额外的2号染色体物质在这种肿瘤类型中具有致病意义。
