FISH analysis for BCL-1 rearrangements and trisomy 12 helps the diagnosis of atypical B cell leukaemias
FISH analysis for BCL-1 rearrangements and trisomy 12 helps the diagnosis of atypical B cell leukaemias
复制标题
DOI：
10.1038/sj.leu.2401561
复制
发表时间：
1999-11
期刊：
影响因子：
11.4
通讯作者：
E. Matutes;P. Carrara;Lionel J. Coignet;V. Brito‐Babapulle;N. Villamor;A. Wotherspoon;D. Catovsky
中科院分区：
文献类型：
--
作者：
E. Matutes;P. Carrara;Lionel J. Coignet;V. Brito‐Babapulle;N. Villamor;A. Wotherspoon;D. Catovsky
我们对53例临床和实验室难以分型的B细胞白血病进行了荧光原位杂交（FISH）检测t（11; 14）和12三体的诊断价值研究。这些病例最初通过形态学和免疫表型诊断，其中33例经组织学诊断如下：慢性淋巴细胞性白血病（CLL）20例，其中18例具有非典型特征，B细胞幼淋巴细胞性白血病（B-PLL）2例，套细胞淋巴瘤（MCL）15例，脾绒毛淋巴细胞淋巴瘤（SLVL）5例，淋巴浆细胞淋巴瘤（LMPL）6例，滤泡性淋巴瘤，1例和，4例仍无法分类。FISH检测15例MCL（10例）、非典型CLL（3例）和B-PLL（2例）循环细胞中BCL-1重排。MCL的明确诊断是在回顾三个BCL-1重排的非典型CLL之一的脾脏组织学。8例12三体，其中4例不典型CLL、1例典型CLL、2例MCL和1例未分类B细胞淋巴瘤。其中1例MCL同时伴有12三体和BCL-1重排，另1例为CD 5+、CD 23+，CLL评分为3，提示后者诊断。我们的研究结果表明，荧光原位杂交分析是有用的，以澄清疾病的性质，在患者提出的B细胞白血病，诊断是困难的，通过传统的方法。FISH通过在超过三分之二的疑似病例中显示BCL-1重排（包括胚样形式），确定了MCL的诊断，并证实了大多数非典型CLL病例的诊断。
We have investigated the diagnostic value of fluorescence in situ hybridisation (FISH) to detect t (11; 14) and trisomy 12 in 53 cases with a B cell leukaemia difficult to classify on clinical and laboratory grounds. These cases were initially diagnosed by morphology and immunophenotype and in 33 of them, on tissue histology, as follows: chronic lymphocytic leukaemia (CLL), 20, 18 of them with atypical features; B cell prolymphocytic leukaemia (B-PLL), two; mantle-cell lymphoma (MCL), 15; splenic lymphoma with villous lymphocytes (SLVL), five; lymphoplasmacytic lymphoma, six; follicular lymphoma, one and, four cases remained unclassifiable. FISH demonstrated BCL-1 rearrangement in the circulating cells from 15 cases classified as: MCL (10), atypical CLL (three) and B-PLL (two). A definitive diagnosis of MCL was made on review of the spleen histology in one out of the three atypical CLL with BCL-1 rearrangement. Trisomy 12 was detected in eight cases which included four atypical CLL, one typical CLL, two MCL and one unspecified B cell lymphoma by histology and morphology. One of the MCL had both trisomy 12 and BCL-1 rearrangement and the other was CD5+, CD23+ and had a CLL score of 3, suggesting the latter diagnosis. Our findings demonstrate that FISH analysis is useful to clarify the nature of the disease in patients presenting with a B cell leukaemia in which the diagnosis is difficult by conventional methods. FISH established with certainty the diagnosis of MCL by showing BCL-1 rearrangement in over two-thirds of cases in which this was suspected, including blastoid forms, and confirmed the diagnosis of most cases of atypical CLL.