Peres Edward M, Savasan Süreyya, Cushing Barbara, Abella Steve, Mohamed Anwar N
Division of Pediatric Hematology/Oncology, Children's Hospital of Michigan, Barbara Ann Karmanos Cancer Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Cancer Genet Cytogenet. 2004 Jan 1;148(1):66-70. doi: 10.1016/s0165-4608(03)00221-8.
Cytogenetic analyses of 16 cases of Wilms tumor with abnormal karyotypes were reviewed, 15 cases of unilateral tumor and 1 bilateral. Three tumors exhibited an unfavorable histology (i.e., anaplastic changes); the rest fell into the favorable histology group. Of the 17 tumors with abnormal clonal aberrations, 9 tumors were hyperdiploid (53%), 7 had pseudodiploid karyotypes (41%), and 1 was hypodiploid (6%). The most common numerical aberrations in descending order of frequency were gain of chromosomes 12, 8, and 6 and loss of chromosome 16. Structural rearrangements mostly involved chromosome 1, followed by chromosomes 7, 14, and 17. Clustering of breaks around 1p22 approximately p31-->pter resulting in partial loss of 1p was the most frequent structural aberration. Additionally, i(7q) was observed as a sole abnormality in two tumors and a 7p translocation in two other tumors. Two other recurrent abnormalities were a partial deletion of 14q, seen in three tumors, and complete loss of chromosome 14 in one tumor. All three Wilms tumors with unfavorable histology had abnormalities of 17p, resulting in TP53 gene deletion. These findings provide further support for the importance of gains of chromosomes 12, 8, and 6 and loss of 1p in the development of Wilms tumor. The results also support the association of unfavorable-histology Wilms tumors with TP53 deletion. The nonrandom losses of 16/16q, 7p, and 14q may point to the importance of genomic imbalance in the pathogenetic consequences and progression of Wilms tumor.
回顾了16例核型异常的肾母细胞瘤的细胞遗传学分析结果，其中15例为单侧肿瘤，1例为双侧肿瘤。3例肿瘤表现为预后不良的组织学类型（即间变改变）；其余肿瘤属于预后良好的组织学类型。在17例具有异常克隆畸变的肿瘤中，9例为超二倍体（53%），7例为假二倍体核型（41%），1例为亚二倍体（6%）。按频率从高到低排列，最常见的数目畸变是12号、8号和6号染色体增加以及16号染色体缺失。结构重排主要涉及1号染色体，其次是7号、14号和17号染色体。1p22至约p31→pter区域周围的断裂聚集导致1p部分缺失是最常见的结构畸变。此外，在2例肿瘤中观察到i(7q)作为唯一异常，在另外2例肿瘤中观察到7p易位。另外两个复发性异常是3例肿瘤中出现的14q部分缺失和1例肿瘤中14号染色体完全缺失。所有3例预后不良组织学类型的肾母细胞瘤均有17p异常，导致TP53基因缺失。这些发现进一步支持了12号、8号和6号染色体增加以及1p缺失在肾母细胞瘤发生中的重要性。结果还支持预后不良组织学类型的肾母细胞瘤与TP53缺失的关联。16/16q、7p和14q的非随机缺失可能表明基因组失衡在肾母细胞瘤发病机制后果和进展中的重要性。
