非特指型外周T细胞淋巴瘤的染色体异常:基于基因芯片的比较基因组杂交研究

 目的　研究非特指型外周T细胞淋巴瘤（PTCL-NOS）的分子遗传学改变特征，从而为揭示其发生、发展的分子机制及治疗提供科学依据。方法　应用1Mb Array-CGH检测37例PTCL-NOS染色体改变， 并经Tile path Array-CGH 验证其结果。根据克隆性分析结果、形态学特征和提取DNA质量，最终确定31例为研究对象。结果　31例中的17例（55 %）存在染色体异常改变，包含重现性染色体片段的异常（≥4例）。其中最频发性染色体获得区域是1p36.13-1p36.32，7q22.1，7q36.1-7q36.3，7q32.1-7q32.3，7q22.1-7q34，9p11.2-9q12和9q33.3-9q34.3；最为频发性染色体缺失区域是1p12-1p21.1和13q14.11-13q14.3；另外，还发现多倍体和单倍体。结论　PTCL-NOS存在多发性重现性染色体畸变，其中携有染色体畸变频发（≥6个区域）的病例预后不良。

Chromosomal aberrations in peripheral T-cell lymphoma, not otherwise specified: an array comparative genomic hybridization approach

Objective To analyze the genetic changes in peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) and to find the key molecular aberrations underlying its pathogenesis. Methods A total of 37 cases of PTCL-NOS were investigated by 1Mb resolution array comparative genomic hybridisation (Array-CGH), in which 9 cases were further studied by using a Tile path array-CGH. DNA extraction, clonality analysis and histologic review were conducted to exclude 6 cases with polyploidy and without obvious genetic imbalances from this study. Results In general, there was a considerable overlap in the CGH profiles in many PTCL-NOS cases. The most recurrent regions of genomic gains were lp36.13-1p36.32, 7q22.1, 7q36.1-7q36.3, 7q32.1-7q32.3, 7q22.1-7q34,9p11 .2-9q12 and 9q33.3-9q34.3. The most recurrent regions of genomic losses were 1p12-1p21.1 and 13q14.11-13q14.3. Conclusion Genomic gains and losses are frequently identified in PTCL-NOS with array-CGH, in which patients with multiple chromosomal alterations (≥6regions) have poor prognosis. These genomic profiles are broadly important to reveal a distinct subgroup with genetic alterations and to find the key genomic imbalance of PTCL-NOS.