Tosi S, Ritterbach J, Maglia O, Harbott J, Riehm H, Masera G, Biondi A, Lampert F
Clinica Pediatrica, Università di Milano, Ospedale S. Gerardo, Monza, Italy.
Cancer Genet Cytogenet. 1994 Apr;73(2):103-8. doi: 10.1016/0165-4608(94)90193-7.
To test the feasibility of using fluorescent in situ hybridization (FISH) on interphase and metaphase cells to detect numerical aberrations in childhood acute lymphoblastic leukemia (ALL), we analyzed bone marrow of 15 patients with cytogenetically documented hyperdiploidy with more than 50 chromosomes at diagnosis. Patients were selected on the basis of being trisomic or tetrasomic for chromosomes 17 and/or 18 as determined by G-banded chromosome analysis. We performed a double target FISH using DNA probes specific for the centromeric region of chromosomes 17 and 18, respectively. The numerical changes regarding chromosome 17 and/or 18 identified by FISH on metaphases were found in all cases analyzed by FISH on interphase nuclei. In 8 of 15 patients, FISH on interphase nuclei demonstrated the presence of one or more groups of cells with different combinations of trisomy and tetrasomy of the two chromosomes investigated, beside the ones detected on metaphases. Overall our findings indicate that interphase FISH analysis could be a useful method to detect the presence of numerical aberrations of two chromosomes simultaneously in bone marrow and peripheral blood specimens of ALL as an adjunct to conventional cytogenetic investigation or metaphase FISH.
为了测试在间期和中期细胞上使用荧光原位杂交（FISH）检测儿童急性淋巴细胞白血病（ALL）中染色体数目畸变的可行性，我们分析了15例诊断时细胞遗传学记录显示超二倍体且染色体数目超过50条的患者的骨髓。根据G带染色体分析确定，患者是基于17号和/或18号染色体三体或四体而被挑选出来的。我们使用分别针对17号和18号染色体着丝粒区域的DNA探针进行了双靶点FISH检测。在中期通过FISH鉴定出的关于17号和/或18号染色体的数目变化，在所有通过间期核FISH分析的病例中均被发现。在15例患者中的8例中，间期核FISH显示除了在中期检测到的细胞外，还存在一组或多组细胞，其具有所研究的两条染色体三体和四体的不同组合。总体而言，我们的研究结果表明，间期FISH分析可能是一种有用的方法，可作为传统细胞遗传学研究或中期FISH的辅助手段，用于同时检测ALL患者骨髓和外周血标本中两条染色体的数目畸变。
