Background & objectives: B-cell chronic lymphocytic leukaemia (B-CLL) is one of the most common forms of adult leukaemia, with a highly variable clinical course. Specific chromosomal and genetic aberrations are used clinically to predict prognosis, independent from conventional clinical markers. Molecular cytogenetic methods such as fluorescence in situ hybridization (FISH) detect aberrations in up to 80 per cent B-CLL patients. This study was conducted to score the frequencies of recurrent aberrations, i.e., del(13q14), trisomy 12, del(11q22), del(17p13), del(6q21) and IgH (immunoglobulin heavy chain) translocations and to understand their role in prognostication and risk stratification.
Methods: FISH studies were performed on bone marrow aspirate or peripheral blood of 280 patients using commercially available disease-specific probe set. The data were correlated with clinical and haematological parameters such as low haemoglobin, splenomegaly and lymphadenopathy.
Results: Chromosomal aberrations were detected in 79 per cent of patients, with del(13q14) (57%) as the most common cytogenetic aberration, followed by trisomy 12 (27%), del(11q22) (22%), t(14q32) (19%), del(17p13) (18%) and del(6q21) (9%). Single or in coexistence with other aberration del(13q14) had a favourable outcome in comparison to del(11q22), t(14q32), del(17p13) and del(6q21) which were associated with advanced stages of the disease. Trisomy 12 had a variable clinical course.
Interpretation & conclusions: FISH was found to be a sensitive and efficient technique in detecting the prevalence of recurrent cytogenetic abnormalities. Each of these aberrations is an important independent predictor of disease progression and survival which aids in designing risk-adapted treatment strategies for better disease management.

中文翻译：

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荧光原位杂交检测细胞遗传学异常作为预后标志物的作用：B-慢性淋巴细胞白血病患者的发病机制和临床过程

背景和目标： B 细胞慢性淋巴细胞白血病 (B-CLL) 是成人白血病最常见的形式之一，临床病程差异很大。临床上使用特定的染色体和遗传畸变来预测预后，独立于常规临床标志物。荧光原位杂交 (FISH)等分子细胞遗传学方法可检测高达 80% 的 B-CLL 患者的异常。本研究旨在对复发性畸变的频率进行评分，即del(13q14)、三体 12、del(11q22)、del(17p13)、del(6q21) 和IgH（免疫球蛋白重链）易位，并了解它们在预测和风险分层。
方法：使用市售的疾病特异性探针组对 280 名患者的骨髓抽吸物或外周血进行了 FISH 研究。这些数据与临床和血液学参数相关，例如低血红蛋白、脾肿大和淋巴结肿大。
结果: 79% 的患者检测到染色体畸变，其中 del(13q14) (57%) 是最常见的细胞遗传学畸变，其次是 12 三体 (27%)、del(11q22) (22%)、t(14q32) ) (19%)、del(17p13) (18%) 和 del(6q21) (9%)。与与疾病晚期相关的 del(11q22)、t(14q32)、del(17p13) 和 del(6q21) 相比，单一或与其他畸变共存的 del(13q14) 具有良好的结果。12 三体有不同的临床过程。
解释和结论: FISH 被发现是检测复发性细胞遗传学异常发生率的一种敏感而有效的技术。这些异常中的每一个都是疾病进展和生存的重要独立预测因子，有助于设计适应风险的治疗策略以实现更好的疾病管理。