荧光原位杂交检测急性髓性白血病21号染色体复杂核型异常

目的对急性髓性白血病（AML）患者可能出现的21号染色体复杂核型异常进行研究。方法AML患者共50例,其中成人37例,儿童13例,采用荧光原位杂交技术（FISH）,运用多种位点特异性DNA探针（染色体全染、特殊位点、双色易位融合探针）进行杂交。结果50例AML中,7例患者出现21号染色体异常（14％）,包括21号染色体数量和结构上的异常。其中4例儿童AML出现21号染色体三倍体,1例合并复杂的核型变化：47～49,XX,der（1）t（1;17）（p36．1;q23）,＋4,＋10,der（11）t（11;17）（q23;q23）,-17,-18,＋20,＋21。3例成人AML出现21号染色体结构的变化,即t（8;21）（q22;q22）。其中1例患者出现复杂的核型变化,即der（21）,t（8;21）（q22;q22）,dup（15q）。结论AML常合并有21号染色体畸变。儿童及成人AML出现21号染色体畸变的方式不同：前者多见21号染色体数量上的变化,而后者多见21号染色体结构上的变化。

Identification of chromosome 21 anomalies in patients with acute myeloid leukemia by fluorescence in situ hybridization

OBJECTIVE: To investigate the possible complex anomalies of chromosome 21 in patients with acute myeloid leukemia (AML). METHODS: Fluorescence in situ hybridization (FISH) was performed by using commercially available DNA probes, including whole chromosome painting probes, locus specific probes, and specific and dual color translocation fusion probes, on 50 AML patients, 37 adults and 13 children. RESULTS: Anomalies of chromosome 21 were found in 7 patients (14%), including numerical chromosomal anomalies and structural rearrangements. Four of the 13 pediatric patients were found to have trisomy of chromosome 21, among which one had an additional chromosome rearrangement: 47-49,XX,der(1)t(1;17)(p36.1;q23), +4, +10, der(11)t(11;17)(q23;q23), -17, -18, +20, +21. Three out of the 37 adult patients were found to have structural rearrangement of chromosome 21, I.e., t(8;21), among which one had an additional duplicated derivative chromosome 21 plus duplication 15q:46,XX,der(21)t(8;21), dup(15q). CONCLUSION: Rearrangement of chromosome 21 is common in both childhood and adult patients with AML. However, childhood patients tend to have numerical change of chromosome 21, whereas the adult patients are likely to have structural changes of chromosome 21.