【摘要】：目的：運用熒光原位雜交技術(shù)(fluorescence in situ hybridization, FISH)和常規(guī)染色體顯帶技術(shù)(conventional cytogenetics, CC)法檢測慢性淋巴細胞白血病患者染色體的異常并比較這兩種方法的差異,同時探討這些染色體異常與其他預后指標的關(guān)系。方法：回顧性分析36例已經(jīng)確診的患者并收集相關(guān)臨床資料,其中男性23例,女性13例。應用著絲粒探針CSP12(+12)和序列特異性探針ATM (11q22. 3)、D13S319 (13q14.3)、P53 (17p13.1)進行FISH檢測。同時分析染色體異常與其他預后指標的關(guān)系。結(jié)果：36例患者中有例7患者通過CC檢測到染色體異常,FISH檢測的染色體異常結(jié)果如下,36例CLL患者染色體異常有24例,其中Del(13q)單獨缺失者13例；Del(17p)單獨缺失者2例；12三體者5例；Del(1lq)單獨缺失者1例。復雜染色體異常3例,其中Del(1lq)伴Del(13q)者1例；12三體伴Del(13q)者1例,12三體伴Del(1lq)者1例。根據(jù)不同染色體異常提示的預后不同,將正常核型和Del(13q)者分到低危組,12三體者分到中危組,Del(11q)、Del(17p)及復雜染色體異常者分到高危組,并分析染色體異常與年齡、白細胞計數(shù)、血紅蛋白計數(shù)、血小板計數(shù)、淋巴細胞絕對值、β2-微球蛋白、乳酸脫氫酶、ZAP-70、Rai分期、CD38、IgVH、Ki-67的關(guān)系。CD38 (r=0.702, P0.01)、ZA P-70 (r=0.68, P0.01)、Ki-67 (γ=0.46, P=0.005)、Rai分期(r=0.38,P=0.02)在不同分組中存在差異且差異有統(tǒng)計學意義。結(jié)論：1)FISH在檢測CLL染色體異常方面檢出率較CC高。2)Del (13q)、Del (11q)、Del (17p)、12三體是慢性淋巴細胞白血病中常見的染色體異常。3)FISH檢測出的染色體異常與Rai分期、CD38、ZAP-70、Ki-67呈正相關(guān)。
[Abstract]:Objective: to detect chromosome abnormalities in patients with chronic lymphoblastic leukemia by fluorescence in situ hybridization (fluorescence in situ hybridization, FISH) and conventional chromosome banding technique (conventional cytogenetics, CC). At the same time, the relationship between these chromosomal abnormalities and other prognostic indexes was discussed. Methods: a retrospective analysis was made on 36 patients, including 23 males and 13 females. The centromere probe CSP12 (12) and sequence-specific probe ATM (11q22) were used. 3), D13S319 (13q14.3) and p53 (17p13.1) were detected by FISH. At the same time, the relationship between chromosomal abnormalities and other prognostic indexes was analyzed. Results: chromosome abnormality was detected by CC in 7 out of 36 patients. The results of chromosome abnormality detected by FISH were as follows: 24 cases with chromosome abnormality in 36 cases with CLL, 13 cases with deletion of Del (13q) alone; Del (17 p) was absent alone in 2 cases and trisomy 12 in 5 cases (; Del (1lq) in 1 case. There were 3 cases of complex chromosomal abnormalities, including Del (1lq) with Del (13q) in 1 case, trisomy 12 with Del (1lq) in 1 case. Patients with normal karyotype and Del (13q) were divided into low risk group, 12 trisomy group into, Del (11q), Del (17p group and those with complex chromosomal abnormality were divided into high risk group according to the prognosis of different chromosomal abnormalities, the patients with normal karyotype and Del (13q) were divided into low risk group, 12 trisomy group and, Del (11q), Del (17p group. The relationship between chromosome abnormality and age, white blood cell count, hemoglobin count, platelet count, lymphocyte absolute value, 尾 2-microglobulin, lactate dehydrogenase, ZAP-70,Rai stage and CD38,IgVH,Ki-67 were analyzed. P0.01), ZA P-70 (RP0. 68, P0. 01), Ki-67 (緯 = 0. 46, P0. 005), Rai stage) were significantly different in different groups. Conclusion: 1) the detection rate of CLL chromosome abnormality by FISH is higher than that by CC. 2) Del (13q), Del (11q), Del (17p). Trisomy 12 is a common chromosome abnormality in chronic lymphoblastic leukemia. 3) chromosome abnormality detected by FISH is positively correlated with Rai stage and CD38,ZAP-70,Ki-67.
【學位授予單位】：新疆醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R733.72
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本文編號：2308386