Fundació Clínic per a la Recerca Biomèdica, Barcelona, Spain.
Br J Haematol. 2012 Mar;156(5):612-8. doi: 10.1111/j.1365-2141.2011.08978.x. Epub 2011 Dec 9.
The analysis of chromosomal abnormalities provides significant prognostic information in patients with chronic lymphocytic leukaemia (CLL), a disease with a highly heterogeneous clinical course. Chromosomal abnormalities commonly found are trisomy 12, del(13)(q14), del(11)(q22-23), del(17)(p13) and del(6)(q21). Translocations are present in some patients and affect regions recurrently involved in CLL. This report describes the clinical and pathological characteristics of four CLL patients showing a new recurrent chromosomal abnormality dic(8;17)(p11;p11), that implied loss of the TP53 gene in all cases. In addition, TP53 gene was mutated in three out of four patients. Mechanically, Low Copy Repeats (LCR) in 17p12 and 8p11 may explain the origin of the translocation by non-allelic homologous recombination (NAHR). Isolated dic(8;17)(p11;p11) in patients with mutated IGHV genes status may not have the same prognostic impact as other mutations or deletions affecting the TP53 gene. Larger series are needed to better evaluate the clinical impact of this chromosomal aberration during the course of the disease.
染色体异常分析为慢性淋巴细胞白血病（CLL）患者提供了重要的预后信息，该病的临床过程具有高度异质性。常见的染色体异常包括三体 12、del(13)(q14)、del(11)(q22-23)、del(17)(p13)和 del(6)(q21)。一些患者存在易位，影响 CLL 中经常涉及的区域。本报告描述了 4 例 CLL 患者的临床和病理特征，这些患者表现出一种新的反复出现的染色体异常 dic(8;17)(p11;p11)，这意味着所有病例均存在 TP53 基因缺失。此外，在 4 例患者中有 3 例存在 TP53 基因突变。从机制上讲，17p12 和 8p11 上的低拷贝重复（LCR）可能通过非等位基因同源重组（NAHR）解释易位的起源。IGHV 基因状态存在孤立的 dic(8;17)(p11;p11)可能不会像影响 TP53 基因的其他突变或缺失那样具有相同的预后影响。需要更大的系列来更好地评估该染色体异常在疾病过程中的临床影响。
