本文選題：單體核型 + 白血病　； 參考：《北京協(xié)和醫(yī)學(xué)院》2016年博士論文

【摘要】：研究目的探討成人急性髓系白血病(AML)單體核型患者的細(xì)胞遺傳學(xué)和預(yù)后特點(diǎn)。研究方法2002年9月至2014年11月在中國醫(yī)學(xué)科學(xué)院血液病醫(yī)院診斷、治療的1236例成人初診AML患者中96例細(xì)胞遺傳學(xué)預(yù)后不良AML患者和1例預(yù)后中等單純單體核型AML患者納入研究,對比分析單體核型患者與其他不良細(xì)胞遺傳學(xué)預(yù)后患者的臨床特征。連續(xù)變量的組間比較采用獨(dú)立樣本t檢驗(yàn),分類變量的比較采用卡方檢驗(yàn),生存分析應(yīng)用Kaplan-Meier法,各組生存曲線比較應(yīng)用Log-Rank檢驗(yàn)。結(jié)果97例患者中,單體核型者31例,占同期收治的AML患者的2.5%,中位年齡為40歲,與除外急性早幼粒細(xì)胞白血病的非單體核型患者相比,無顯著差異(P=0.499)。按照美國西南治療研究組預(yù)后分層標(biāo)準(zhǔn),其中30例染色體異常≥3種的復(fù)雜核型者,歸入預(yù)后不良組；另1例單純單體核型者歸入預(yù)后中等組；非單體核型者66例。染色體單體包括了所有的22對常染色體,單體核型常見的染色體單體為-17、-5、-7、-21、-8、-22。單體核型多伴發(fā)其他細(xì)胞遺傳學(xué)高危核型,常見的是-5、-7、11q異常、5q-、17p異常。96例細(xì)胞遺傳學(xué)不良預(yù)后患者中,單體核型患者中位總生存(OS)時(shí)間為6.1個(gè)月,非單體核型患者中位OS時(shí)間未達(dá)到,兩組中位無復(fù)發(fā)生存(RFS)時(shí)間分別為3.1和18.6個(gè)月,差異均有統(tǒng)計(jì)學(xué)意義(P值分別為0.001和0.001)。49例復(fù)雜核型患者中,單體核型(30例)和非單體核型(19例)組中位OS時(shí)間分別為6.1和10.8個(gè)月(P=0.088),中位RFS時(shí)間分別為3.1和8.6個(gè)月(P=0.009)。將31例單體核型患者分為兩組,一組是僅有一個(gè)常染色體單體伴其他常染色體結(jié)構(gòu)異常(6例),另一組是有兩個(gè)及以上單體伴或不伴結(jié)構(gòu)異常(25例),兩組患者的中位OS時(shí)間分別為2.5和6.1個(gè)月,中位RFS時(shí)間分別為4.5和2.5個(gè)月,OS及RFS差異并無統(tǒng)計(jì)學(xué)意義(P值分別為0.812和0.205)。結(jié)論單體核型AML主要見于細(xì)胞遺傳學(xué)預(yù)后不良組中的復(fù)雜核型患者,在預(yù)后不良及復(fù)雜核型群體中單體核型患者具有比非單體核型患者更差的預(yù)后。
[Abstract]:Objective to investigate the cytogenetic and prognostic characteristics of monomeric karyotype of adult acute myeloid leukemia (AML). Methods from September 2002 to November 2014, 96 patients with AML with poor cytogenetic prognosis and 1 patient with moderate monomeric AML were enrolled in the study. 1236 adult patients with AML were diagnosed from September 2002 to November 2014. The clinical features of patients with monomeric karyotype and other patients with poor cytogenetic prognosis were compared and analyzed. The independent sample t test was used to compare the continuous variables, the chi-square test was used to compare the classified variables, the Kaplan-Meier method was applied to survival analysis, and the Log-Rank test was used to compare the survival curves of each group. Results among the 97 patients, 31 were monomeric karyotype, which accounted for 2.5% of AML patients in the same period. The median age was 40 years old. There was no significant difference compared with non-monomeric karyotype patients excluding acute promyelocytic leukemia (APC). According to the criteria of prognostic stratification, 30 cases of complex karyotypes with chromosomal abnormalities 鈮，

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