Finn W G, Thangavelu M, Yelavarthi K K, Goolsby C L, Tallman M S, Traynor A, Peterson L C
Northwestern University Medical School, Chicago, Illinois 60611, USA.
Am J Clin Pathol. 1996 Apr;105(4):458-67. doi: 10.1093/ajcp/105.4.458.
Chronic lymphocytic leukemia (CLL) is recognized as a distinct entity. However, morphologic and immunophenotypic heterogeneity exist. Twenty-six patients with CLL were studied to investigate whether an association exists among peripheral blood karyotype, morphology and immunophenotype. Clonal cytogenetic abnormalities were detected in 14 patients (53%), using conventional karyotyping techniques in addition to fluorescence in situ hybridization (FISH) for chromosome 12. By FAB guidelines, 7 of the 8 patients (88%) with trisomy 12 had mixed cell morphology compared to only 3 of 18 (17%) without trisomy 12 (P = .004). One patient (12%) with trisomy 12 had lymphocyte morphology typical for CLL. Six of the eight (75%) with trisomy 12 had atypical immunophenotype including one or more of the following: strong CD20 expression, strong surface light chain expression, or absence of CD23 expression. Only 2 of the 18 patients (11%) without trisomy 12 had atypical immunophenotype (P = .005). None of the three patients with clonal structural abnormalities of chromosome 13q14 had mixed cell morphology or atypical immunophenotype. One of the 12 patients (8%) without clonal cytogenetic abnormalities had mixed cell morphology and one had atypical immunophenotype. This study suggests that a correlation exists among karyotype, morphology, and immunophenotype in CLL, and that CLL subgroups can be identified based on laboratory parameters. Although normal karyotypes or clonal structural abnormalities of 13q14 are associated with morphology and immunophenotype considered typical for CLL, trisomy 12 is associated with mixed cell morphology and atypical immunophenotype. These findings may have implications for evaluating variation in both disease course and response to emerging therapies.
慢性淋巴细胞白血病（CLL）被认为是一种独特的疾病实体。然而，其形态学和免疫表型存在异质性。对26例CLL患者进行了研究，以探讨外周血核型、形态学和免疫表型之间是否存在关联。除了使用常规核型分析技术外，还采用荧光原位杂交（FISH）检测12号染色体，在14例患者（53%）中检测到克隆性细胞遗传学异常。根据FAB标准，8例12号染色体三体患者中有7例（88%）具有混合细胞形态，而18例无12号染色体三体的患者中只有3例（17%）具有混合细胞形态（P = 0.004）。1例12号染色体三体患者（12%）具有CLL典型的淋巴细胞形态。8例12号染色体三体患者中有6例（75%）具有非典型免疫表型，包括以下一种或多种：CD20强表达、表面轻链强表达或CD23表达缺失。18例无12号染色体三体的患者中只有2例（11%）具有非典型免疫表型（P = 0.005）。13q14染色体克隆性结构异常的3例患者均无混合细胞形态或非典型免疫表型。12例无克隆性细胞遗传学异常的患者中有1例（8%）具有混合细胞形态，1例具有非典型免疫表型。本研究表明，CLL的核型、形态学和免疫表型之间存在相关性，并且可以根据实验室参数识别CLL亚组。虽然正常核型或13q14染色体克隆性结构异常与CLL典型的形态学和免疫表型相关，但12号染色体三体与混合细胞形态和非典型免疫表型相关。这些发现可能对评估疾病进程的变化以及对新出现疗法的反应具有重要意义。
