Madrigal Irene, Carrió Ana, Gómez Cándida, Rozman María, Esteve Jordi, Nomdedeu Benet, Campo Elías, Costa Dolors
IDIBAPS, Hospital Clínic, Barcelona, Catalonia, Spain.
Cancer Genet Cytogenet. 2006 Oct 15;170(2):115-20. doi: 10.1016/j.cancergencyto.2006.05.007.
Chromosomal rearrangements involving 3q26 are a recurrent aberration in malignant myeloid disorders. Several of these rearrangements involve the EVI1 oncogene or its surrounding sequences and are associated with a poor prognosis. Fluorescence in situ hybridization (FISH) studies using bacterial artificial chromosome (BAC) clones were conducted to determine whether the EVI1 locus was rearranged in nine patients with hematological malignancies carrying 3q abnormalities. A dual-color probe was constructed with nine BACs; centromeric clones covering 1 Mb and including the EVI1 gene were labeled with a red fluorescent dye and telomeric clones covering 1 Mb were labeled with a green fluorescent dye. Two patients showed normal copies of the EVI1 locus, four patients showed one EVI1 locus rearranged (in all of them the breakpoint on 3q26 was telomeric to EVI1), one patient showed one copy of the EVI1 locus translocated to another chromosome, one patient showed one copy of the EVI1 locus rearranged and the other copy translocated, and one patient showed one extra copy of the EVI1 locus. In four cases, FISH studies using the EVI1 clones detected different 3q abnormalities not previously found by conventional cytogenetics. FISH analysis with BAC clones was a useful tool for identifying the chromosome breakpoints affecting the EVI1 locus in patients with 3q26 rearrangements.
涉及3q26的染色体重排是恶性髓系疾病中常见的畸变。其中一些重排涉及EVI1致癌基因或其周围序列，并与预后不良相关。我们进行了使用细菌人工染色体（BAC）克隆的荧光原位杂交（FISH）研究，以确定EVI1基因座在9例携带3q异常的血液系统恶性肿瘤患者中是否发生重排。用9个BAC构建了双色探针；覆盖1 Mb并包含EVI1基因的着丝粒克隆用红色荧光染料标记，覆盖1 Mb的端粒克隆用绿色荧光染料标记。2例患者显示EVI1基因座拷贝数正常，4例患者显示一个EVI1基因座发生重排（在所有这些患者中，3q26上的断点位于EVI1的端粒侧），1例患者显示一个EVI1基因座拷贝易位至另一条染色体，1例患者显示一个EVI1基因座拷贝发生重排，另一个拷贝发生易位，1例患者显示EVI1基因座有一个额外拷贝。在4例病例中，使用EVI1克隆的FISH研究检测到了传统细胞遗传学先前未发现的不同3q异常。用BAC克隆进行FISH分析是识别3q26重排患者中影响EVI1基因座的染色体断点的有用工具。
