Jabbar S A, Ganeshaguru K, Wickremasinghe R G, Hoffbrand A V, Foroni L
Haematology Department, Royal Free Hospital School of Medicine, London.
Br J Haematol. 1995 Jun;90(2):476-8. doi: 10.1111/j.1365-2141.1995.tb05180.x.
Chromosomal abnormalities are detected by conventional cytogenetic or FISH analysis in 50% of chronic lymphocytic leukaemias (CLL). Trisomy 12 and del 13q14 account for 70% of these abnormalities. The incidence of these two abnormalities was studied in CLL patients by Southern blot analysis using a highly purified B-cell malignant population (CD5 > 95%, CD3 < 5%). Probes for the D13S25 marker on chromosome 13 band q14 and for the RBTN3 gene on chromosome 12 band p12-13, were used. Deletion of the D13S25 was detected in 17/42 patients (43%) in a homozygous (9.5%) or heterozygous (30%) configuration. Deletion of the D13S25 marker appears to be a clonal and early event in CLL development since it is detected in > 95% of the malignant clonal population. Conversely, trisomy 12 is rarely a clonal event (5/33 patients, 15%) and a varying proportion of cells carrying this abnormality can be demonstrated in 30% of CLL patients (10/33 patients).
在50%的慢性淋巴细胞白血病（CLL）中，通过传统细胞遗传学或荧光原位杂交（FISH）分析可检测到染色体异常。三体12和13q14缺失占这些异常的70%。使用高度纯化的B细胞恶性群体（CD5>95%，CD3<5%），通过Southern印迹分析研究了CLL患者中这两种异常的发生率。使用了位于13号染色体q14带的D13S25标记探针和位于12号染色体p12 - 13带的RBTN3基因探针。在42例患者中的17例（43%）检测到D13S25缺失，呈纯合（9.5%）或杂合（30%）状态。D13S25缺失似乎是CLL发生过程中的一个克隆性早期事件，因为在>95%的恶性克隆群体中可检测到。相反，三体12很少是克隆性事件（33例患者中的5例，15%），并且在30%的CLL患者（33例患者中的10例）中可证明有不同比例的细胞携带这种异常。
