Starza R L, Matteucci C, Crescenzi B, Perla G, Carotenuto M, Martelli M F, Hagemeijer A, Mecucci C
Department of Hematology and Clinical Immunology, University of Perugia, Italy.
Cancer Genet Cytogenet. 1997 Jun;95(2):148-52. doi: 10.1016/s0165-4608(96)00214-2.
Karyotyping with fluorescence in situ hybridization (FISH) is reported in two rare cases of AML-M2 FAB. In the first case FISH analysis confirmed the presence of a t(7;11)(p15:p15) translocation in a complex karyotype that also showed an unbalanced translocation involving the other chromosome 7, a rare rearrangement between chromosomes 9 and 20, and four or five copies of a small marker derived from chromosome 9. In the second case whole chromosome painting with probes for chromosomes 8, 14, and 21 revealed the presence of a masked t(8;21) translocation in which one chromosome 14 was involved in a newly discovered rearrangement, i.e., t(8;14;21)(q22-q24;q11;q22). Moreover , double color FISH using ETO-CDR P1 probe and a cosmid for the 5' part of AML-1 on chromosome 21 showed a two color signal on the 8q-, suggesting a recombination between ETO and AML 1. Molecular cytogenetics overcomes limitation of chromosome banding in the interpretation of complex rearrangements.
荧光原位杂交（FISH）核型分析应用于两例罕见的急性髓系白血病M2型（FAB分型）。第一例中，FISH分析证实在复杂核型中存在t(7;11)(p15:p15)易位，该核型还显示涉及另一条7号染色体的不平衡易位、9号和20号染色体之间的罕见重排以及来自9号染色体的一个小标记的四或五个拷贝。第二例中，用8号、14号和21号染色体的探针进行全染色体涂染，发现存在隐匿性t(8;21)易位，其中一条14号染色体参与了新发现的重排，即t(8;14;21)(q22-q24;q11;q22)。此外，使用ETO-CDR P1探针和21号染色体上AML-1 5'部分的黏粒进行双色FISH检测，在8号染色体长臂缺失处显示双色信号，提示ETO与AML 1之间发生了重组。分子细胞遗传学克服了染色体显带在复杂重排解释方面的局限性。
