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目的了解慢性淋巴细胞白血病(CLL)的分子遗传学特性。方法运用间期荧光原位杂交(FISH)技术对60例初发的B细胞CLL(B-CLL)患者进行12号染色体3体(+12)、del (13q14)和del(17p13)检测。结果 60例患者中,41例(68．3％)至少有一种分子遗传学异常, 2例(3．3％)具有2种染色体异常。12例(20．0％)有+12异常,其畸变细胞率在4．0％-34．0％之间;24例(40．0％)有del(13q14)异常,其畸变细胞率在22．0％-93．0％之间,其中3例有2条染色体del(13q14)异常;7例(11．7％)有del(17p13)异常,其畸变细胞率在6．0％-68．0％之间。不同Binet分期中,3种分子遗传学异常差异无统计学意义。结论FISH是一种在分析CLL染色体数目和结构异常方面较为快速、准确和敏感的方法,可为CLL的研究提供较为准确的分子遗传学信息。
Objective To understand the molecular genetic characteristics of chronic lymphocytic leukemia (CLL). Methods 60 cases of newly diagnosed B cell CLL (B-CLL) were detected on chromosome 12 (+12), del (13q14) and del (17p13) by interphase fluorescence in situ hybridization (FISH) Results Of the 60 patients, 41 (68.3%) had at least one molecular genetic abnormality and 2 (3.3%) had 2 chromosomal abnormalities. Twelve cases (20.0%) had +12 abnormality, the rate of aberrant cells was between 4.0% -34.0%; 24 cases (40.0%) had abnormal del (13q14) Among them, there were 3 chromosomes del (13q14) abnormalities in 3 cases and 7 cases (11.7%) were abnormalities of del (17p13) with aberrational cell rates of 6.0% - 93.0% 68.0% between. Among the different Binet stages, there were no significant differences among the three molecular genetics. Conclusion FISH is a rapid, accurate and sensitive method for the analysis of chromosome number and structural abnormalities in CLL. It can provide more accurate molecular genetic information for the study of CLL.