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科威特初发急性髓系白血病患者的染色体畸变

Chromosome aberrations in de novo acute myeloid leukemia patients in Kuwait.

作者信息

Al Bahar S, Pandita R, Bavishi K, Kreze O, Nath S

机构信息

Department of Hematology, Kuwait Cancer Control Centre, Shuwaikh, Kuwait.

出版信息

Neoplasma. 2004;51(3):223-7.

Abstract

Cytogenetic analysis was successfully performed at the time of diagnosis in 45 patients with de novo acute myeloid leukemia, including 10 children and 35 adults. In approximately 73% of AML patients (35 patients) clonal chromosome abnormalities were detected at the time of diagnosis. Twelve patients (22.8%) had apparently normal karyotypes. Recurring aberrations found in 22 of patients with abnormal karyotypes included t(15;17)(q22;q11), t(8;21)(q22;q22), inv(16)(p13q22), trisomy 8, monosomy 7 and del(5q). The highest frequency of chromosome changes was observed in AML-M3. The occurrence of the classical cytogenetic abnormalities was not a ubiquitous phenomenon. In 11 patients previously not described miscellaneous clonal chromosomal abnormalities were detected. Clonal chromosomal abnormalities detected in AML have shown correlations between specific recurrent chromosomal abnormalities and clinico-biological characteristics of the patients, therefore have been repeatedly shown to constitute markers of diagnostic and prognostic significance. Moreover, ongoing cytogenetic analysis can identify new nonrandom chromosome aberrations in AML and contribute to the identification of novel genes involved in the development of cancer, which can lead to better understanding of the disease pathogenesis.

摘要

对45例初发急性髓系白血病患者(包括10例儿童和35例成人)在诊断时成功进行了细胞遗传学分析。在大约73%的急性髓系白血病患者(35例)中,诊断时检测到克隆性染色体异常。12例患者(22.8%)核型明显正常。在22例核型异常的患者中发现的常见畸变包括t(15;17)(q22;q11)、t(8;21)(q22;q22)、inv(16)(p13q22)、8号染色体三体、7号染色体单体和del(5q)。在急性早幼粒细胞白血病(AML-M3)中观察到最高频率的染色体变化。经典细胞遗传学异常的出现并非普遍现象。在11例之前未描述过的患者中检测到了其他克隆性染色体异常。急性髓系白血病中检测到的克隆性染色体异常显示出特定常见染色体异常与患者临床生物学特征之间的相关性,因此已多次证明其构成具有诊断和预后意义的标志物。此外,持续的细胞遗传学分析可以识别急性髓系白血病中新的非随机染色体畸变,并有助于鉴定参与癌症发生发展的新基因,从而更好地理解疾病发病机制。

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