Disciplina de Hematologia e Hemoterapia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
Braz J Med Biol Res. 2009 Nov;42(11):1110-2. doi: 10.1590/S0100-879X2009001100018.
Myelodysplastic syndrome (MDS) patients with a normal karyotype constitute a heterogeneous group from a biological standpoint and their outcome is often unpredictable. Interphase fluorescence in situ hybridization (I-FISH) studies could increase the rate of detection of abnormalities, but previous reports in the literature have been contradictory. We performed I-FISH and conventional karyotyping (G-banding) on 50 MDS patients at diagnosis, after 6 and 12 months or at any time if a transformation to acute myeloid leukemia (AML) was detected. Applying a probe-panel targeting the centromere of chromosomes 7 and 8, 5q31, 5p15.2 and 7q31, we observed one case with 5q deletion not identified by G-banding. I-FISH at 6 and 12 months confirmed the karyotype results. Eight cases transformed to AML during follow-up, but no hidden clone was detected by I-FISH in any of them. The inclusion of I-FISH during follow-up of MDS resulted in a small improvement in abnormality detection when compared with conventional G-banding.
骨髓增生异常综合征（MDS）患者的核型正常，从生物学角度来看属于异质性群体，其预后往往难以预测。间期荧光原位杂交（I-FISH）研究可以提高异常检出率，但文献中的既往报道存在矛盾。我们对 50 例 MDS 患者在诊断时、6 个月和 12 个月时或在任何时候检测到向急性髓系白血病（AML）转化时进行了 I-FISH 和常规核型分析（G 显带）。应用针对染色体 7 和 8、5q31、5p15.2 和 7q31 着丝粒的探针组合，我们观察到一例 G 显带未识别的 5q 缺失。6 个月和 12 个月时的 I-FISH 结果与核型分析结果一致。8 例患者在随访期间转化为 AML，但在任何患者中均未通过 I-FISH 检测到隐匿性克隆。与常规 G 显带相比，MDS 患者在随访中进行 I-FISH 可略微提高异常检出率。
