Martín M L, Marqués M L, García A, Montalbán M A, Toscano R, Moreno A, Gómez M J, Barreiro E
Servicio de Genética, Hospital Universitario 12 de Octubre.
Sangre (Barc). 1995 Oct;40(5):425-9.
Chromosomal studies in CLL have yielded poorer results than in other blood diseases because of the low mitotic index of the B cells. The FISH technique is a very useful tool for trisomy 12 detection in interphase nuclei in CLL, although this method cannot be a substitutive for conventional cytogenetics. The FISH technique was applied in two cases of CLL by means of satellite DNA probing specific for chromosome 12 according to the Oncor S 1370-CF kit protocol. Trisomy 12 was detected, along with other chromosomal abnormalities secondary to this trisomy. Both patients had lymphocyte counts lower than 5.0 x 10(9)/L and their peripheral blood immunophenotype showed 58% lymphocytes with lambda sIg of medium density, co-expressing CD5 and unable to form rosettes with mouse red-cells. Patient no. 1 was 46,XY/47,XY + 12/47,XY + 12,5q-, and patient no. 2 was 46,XX/47,XX + 12,14q-. The presence of secondary anomalies could explain the special clinico-haematological picture, characterised by low lymphocytosis and presence of irregular nuclei in mature lymphocytes, along with the lack of CD23 expression and rosette formation with mouse red-cells. FISH technique combined with chromosome analysis may prove a useful means for diagnosing and recognising variants or specific entities within low-grade lymphoproliferative syndromes.
由于B细胞的有丝分裂指数较低，慢性淋巴细胞白血病（CLL）的染色体研究结果比其他血液疾病的结果更差。荧光原位杂交（FISH）技术是检测CLL间期核中12号染色体三体的非常有用的工具，尽管该方法不能替代传统细胞遗传学。根据Oncor S 1370 - CF试剂盒方案，通过对12号染色体特异的卫星DNA探针，将FISH技术应用于2例CLL患者。检测到12号染色体三体以及继发于该三体的其他染色体异常。两名患者的淋巴细胞计数均低于5.0×10⁹/L，其外周血免疫表型显示58%的淋巴细胞具有中等密度的λ表面免疫球蛋白（sIg），共表达CD5且不能与小鼠红细胞形成玫瑰花结。1号患者为46,XY/47,XY + 12/47,XY + 12,5q-，2号患者为46,XX/47,XX + 12,14q-。继发异常的存在可以解释特殊的临床血液学表现，其特征为淋巴细胞增多症程度低、成熟淋巴细胞中存在不规则核，同时缺乏CD23表达以及不能与小鼠红细胞形成玫瑰花结。FISH技术与染色体分析相结合可能是诊断和识别低度淋巴增殖性综合征内变异型或特定实体的有用方法。
