Trisomy 12 defines a group of CLL with atypical morphology: Correlation between cytogenetic, clinical and laboratory features in 544 patients
Trisomy 12 defines a group of CLL with atypical morphology: Correlation between cytogenetic, clinical and laboratory features in 544 patients
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DOI：
10.1046/j.1365-2141.1996.d01-1478.x
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发表时间：
1996-02-01
影响因子：
6.5
通讯作者：
Catovsky, D
中科院分区：
文献类型：
--
作者：
Matutes, E;Oscier, D;Catovsky, D
我们分析了 544 例慢性淋巴细胞白血病 (CLL) 患者的临床和实验室特征，其中一半患者采用细胞遗传学和荧光原位杂交 (FISH) 分析对 12 三体进行分析，以检查染色体异常与临床或实验室参数之间的相关性。定义了五个染色体组：（1）12 三体（18%），被检测为唯一异常或与其他变化相关； (2)del(13)(q12-14)(7%)； （3）其他异常核型（20%）； (4)核型正常（41%）； （5）没有分裂（14%）。五组之间的年龄分布没有差异。临床分期（Binet）为：A（74%）、B（12%）和C（14%）。 A期常见于del(13q)(82%)、正常(84%)和其他异常核型(74%)的病例，而在12三体病例(64%)和无分裂病例(48%)中较少见。 83% 的病例发现了典型的 CLL 形态； 10% 的幼淋巴细胞 (CLL/PL) 超过 10%，7% 具有其他非典型特征。具有 12 三体性的 CLL 是唯一具有高频率 CLL/PL (31%) 或非典型形态 (24%) 的群体。当 12 三体性与其他染色体异常相关时，非典型形态和 CLL/PL 甚至更加常见 (70% vs 46%)。其他染色体组中 CLL/PL 和其他非典型形态病例的发生率显着较低（P < 0.001）。各组之间的免疫表型没有差异，只是在 12 三体病例中，特别是患有 CLL/PL 和其他非典型形态的病例中，Smlg 和 FMC7 表达更强的频率更高。我们的研究结果证实，12 三体性定义了 CLL 的一个亚组，具有更常见的非典型形态，包括 CLL/PL、更强的 SmIg 和 FMC7 表达、更晚期（B 和 C 占 18%）以及可能更差的预后。
We have analysed the clinical and laboratory features in 544 patients with chronic lymphocytic leukaemia (CLL) with available cytogenetics and fluorescence in-situ hybridization (FISH) analysis for trisomy 12 in half of them, to examine the correlation between chromosome abnormalities and clinical or laboratory parameters. Five chromosome groups were defined: (1) trisomy 12 (18%), detected as the sole abnormality or associated with other changes; (2) del(13)(q12-14) (7%); (3) other abnormal karyotypes (20%); (4) normal karyotype (41%); and (5) no divisions (14%). There were no differences in the age distribution between the five groups. Clinical stages (Binet) were: A (74%), B (12%) and C (14%). Stage A was common in cases with del(13q)(82%), normal (84%) and other abnormal karyotypes (74%), whereas it was less common in trisomy 12 cases (64%) and those with no divisions (48%). Typical CLL morphology was found in 83% of cases; 10% had more than 10% prolymphocytes (CLL/PL) and 7% had other atypical features. CLL with trisomy 12 was the only group with a high frequency of either CLL/PL (31%) or atypical morphology (24%). Atypical morphology and CLL/PL were even more frequent when trisomy 12 was associated with Other chromosomal abnormalities (70% v 46%). The incidence of cases with CLL/PL and other atypical morphology was significantly lower in the other chromosome groups (P < 0.001). There were no differences in immunophenotype among the various groups except for a higher frequency of stronger Smlg and FMC7 expression in cases with trisomy 12, particularly those with CLL/PL and other atypical morphology. Our findings confirm that trisomy 12 defines a subgroup of CLL, with more frequent atypical morphology, including CLL/PL, stronger SmIg and FMC7 expression, more advanced stages (B and C in 18%) and possibly worse prognosis.