Dewald G W, Wyatt W A, Silver R T
Division of Laboratory Genetics Mayo Clinic and Mayo Foundation, Rochester, Minnesota, USA.
Leuk Lymphoma. 1999 Aug;34(5-6):481-91. doi: 10.3109/10428199909058475.
D-FISH uses DNA probes with fluorescence in situ hybridization to detect two fusion signals in cells with a t(9;22)(q34;q11.2) from patients with chronic myeloid leukemia (CML). Using D-FISH, 147 patients with CML were studied and considerable macro genetic variation was observed among their Ph-chromosomes. Typical D-FISH signal patterns were observed for 81% of patients, but three different atypical patterns were seen in 19% of patients. Atypical patterns among Ph-chromosomes were consistent with loss of the 3' portion of BCR that is usually translocated to chromosome 9, or loss of the 5' segment of ABL that usually remains on chromosome 9, or loss of both the 3' translocated BCR and 5' residual ABL hybridization sites. Atypical patterns were associated with all forms of Ph-chromosomes including t(9;22)(q34;q1.2), complex translocations and masked. The normal range for 500 interphase nuclei for patients with typical patterns is < 1%. By comparison, the normal range for patients with either of two atypical patterns was < or = 1.8% and for patients with the other atypical pattern was < or = 23%. Thus, special scoring criteria are needed to detect and quantify nuclei with atypical patterns using D-FISH. The proportion of patients that responded to therapy with interferon alpha-2b or interferon alpha-2b and ara-C for 36 patients with typical patterns was similar to 7 patients with atypical patterns.
双色荧光原位杂交（D-FISH）使用带有荧光的DNA探针进行原位杂交，以检测慢性髓性白血病（CML）患者中具有t(9;22)(q34;q11.2)的细胞中的两个融合信号。使用D-FISH对147例CML患者进行了研究，在他们的费城染色体中观察到了相当大的宏观遗传变异。81%的患者观察到典型的D-FISH信号模式，但19%的患者出现了三种不同的非典型模式。费城染色体中的非典型模式与通常易位至9号染色体的BCR 3'部分缺失、通常留在9号染色体上的ABL 5'片段缺失或3'易位的BCR和5'残留ABL杂交位点均缺失一致。非典型模式与所有形式的费城染色体相关，包括t(9;22)(q34;q1.2)、复杂易位和隐匿型。典型模式患者500个间期核的正常范围<1%。相比之下，两种非典型模式之一的患者正常范围<或 = 1.8%，另一种非典型模式的患者正常范围<或 = 23%。因此，使用D-FISH检测和定量具有非典型模式的核需要特殊的评分标准。36例典型模式患者和7例非典型模式患者接受α-2b干扰素或α-2b干扰素与阿糖胞苷联合治疗的反应比例相似。
