AbdelSalam M, El Sissy A, Samra M A, Ibrahim S, El Markaby D, Gadallah F
Clinical Oncology Center, Cairo University Hospital, Cairo University, Cairo, Egypt.
Hematology. 2008 Jun;13(3):147-53. doi: 10.1179/102453308X316121.
Routine cytogenetic analysis frequently fails to identify an abnormal clone in B-cell lymphocytic leukaemia (B-CLL) due to poor response to mitogen stimulation. Fluorescence in situ hybridization (FISH) suggest that chromosomal abnormalities occur more frequently, most commonly trisomy 12, retinoblastoma gene deletion (Rb1 gene) and P53 gene deletion.
30 patients with B-CLL were enrolled in the trial from two centers in Cairo, Egypt during the period May 2000 to January 2002. Karyotyping and FISH assessment for possible chromosomal abnormalities (trisomy 12, Rb1 gene and P53 gene) were done at initial diagnosis. Results of cytogenetic abnormalities were correlated with clinical picture and survival.
The median age was 57.4 years (range 40-75). Karyotyping technique showed that no metaphase could be detected in 30%, metaphase with normal karyotyping was observed in 63% and cytogenetic abnormalities were detected in two cases (one trisomy 12 and one deletion in chromosome 13). FISH examination of interphase and metaphase nuclei revealed cytogenetic abnormalities in 15 cases (50%), trisomy 12 in 9 (30%), Rb1 gene deletion in 5 (17%) and P53 gene deletion in 3. At diagnosis, patients with trisomy 12 were significantly associated with advanced stage and absolute lymphocyte count of >or=30,000/mm(3). Univariate analysis showed that absolute lymphocyte count >or=30,000/mm(3) (p=0.004) and trisomy 12 (p=0.024) were associated with poor progression free survival.
Interphase and metaphase FISH studies improve the cytogenetic diagnosis of chromosomal abnormalities in B-CLL. Lymphocytosis and trisomy 12 may be a good indicator of poor prognosis.
由于对有丝分裂原刺激反应不佳，常规细胞遗传学分析常常无法在B细胞淋巴细胞白血病（B-CLL）中识别出异常克隆。荧光原位杂交（FISH）表明染色体异常更频繁地出现，最常见的是12号染色体三体、视网膜母细胞瘤基因缺失（Rb1基因）和P53基因缺失。
2000年5月至2002年1月期间，从埃及开罗的两个中心招募了30例B-CLL患者参加该试验。在初诊时进行核型分析和FISH评估，以检测可能的染色体异常（12号染色体三体、Rb1基因和P53基因）。将细胞遗传学异常结果与临床表现和生存率相关联。
中位年龄为57.4岁（范围40 - 75岁）。核型分析技术显示，30%的病例未检测到中期分裂相，63%观察到核型正常的中期分裂相，2例检测到细胞遗传学异常（1例12号染色体三体和1例13号染色体缺失）。间期和中期细胞核的FISH检查发现15例（50%）存在细胞遗传学异常，其中9例（30%）为12号染色体三体，5例（17%）为Rb1基因缺失，3例为P53基因缺失。在诊断时，12号染色体三体的患者与晚期以及绝对淋巴细胞计数≥30,000/mm³显著相关。单因素分析显示，绝对淋巴细胞计数≥30,000/mm³（p = 0.004）和12号染色体三体（p = 0.024）与无进展生存期差相关。
间期和中期FISH研究改善了B-CLL中染色体异常的细胞遗传学诊断。淋巴细胞增多和12号染色体三体可能是预后不良的良好指标。
