La Starza R, Wlodarska I, Matteucci C, Falzetti D, Baens M, Martelli M F, Van den Berghe H, Marynen P, Mecucci C
Hematology and Bone Marrow Transplantation Unit, University of Perugia, Italy.
Genes Chromosomes Cancer. 1998 Sep;23(1):10-5. doi: 10.1002/(sici)1098-2264(199809)23:1<10::aid-gcc2>3.3.co;2-7.
A case of acute myeloid leukemia (AML) M1 with bone marrow eosinophilia was characterized by cytogenetics and fluorescence in situ hybridization (FISH). A complex karyotype including a der(12)t(12;17)(p12-13;q11) and a der(16)t(16;20)(p13;p11) was found at diagnosis. FISH studies with probes for chromosome 16 and for the short arm of chromosome 12 showed even more complex rearrangements. Analysis with a panel of probes for 12p showed that D12S158 spanned the breakpoint on the der(12). Unexpectedly, FISH signals were found on the der(12) and on the der(6) at band p13, the site of juxtaposition between the short arm of chromosome 16 and chromosome 20. Moreover, both YAC 854E2, containing the MYH11 gene, and cosmid ZIT133, encompassing the MYH11 breakpoint in inv(16) and t(16;16) of AML-M4 with eosinophilia, demonstrated fluorescent signals on the normal 16, on the der(16), and on the der(12). These data clearly support a reciprocal exchange between D12S158 at 12p13.3 and the MYH11 gene at 16p13. In addition, experiments with two PAC clones for the CBFB gene at 16q22 excluded the presence of a masked inv(16). An interstitial deletion, independent from the translocation and flanked by VWF and KRAS2, was also detected on the der(12).
1例伴有骨髓嗜酸性粒细胞增多的急性髓系白血病（AML）M1通过细胞遗传学和荧光原位杂交（FISH）进行特征分析。诊断时发现复杂核型，包括der(12)t(12;17)(p12 - 13;q11)和der(16)t(16;20)(p13;p11)。使用针对16号染色体和12号染色体短臂的探针进行FISH研究显示出更复杂的重排。用一组针对12p的探针进行分析表明，D12S158跨越了der(12)上的断点。出乎意料的是，在der(12)以及16号染色体短臂与20号染色体并置位点（p13带）的der(6)上发现了FISH信号。此外，包含MYH11基因的YAC 854E2以及包含AML - M4伴有嗜酸性粒细胞增多的inv(16)和t(16;16)中MYH11断点的粘粒ZIT133，在正常16号染色体、der(16)和der(12)上均显示出荧光信号。这些数据明确支持12p13.3处的D12S158与16p13处的MYH11基因之间发生了相互交换。此外，针对16q22处CBFB基因的两个PAC克隆进行的实验排除了隐匿性inv(16)的存在。在der(12)上还检测到一个与易位无关且由VWF和KRAS2侧翼的间质性缺失。
