Cytogenetic Unit, Pathology Department, Kidwai Memorial Institute of Oncology, Bangalore, India.
Arch Iran Med. 2013 Aug;16(8):459-62.
The current WHO classification of hematologic malignancies defines distinct entities of myeloid disorders based on the presence of recurrent cytogenetic abnormalities. Diagnostic clonal chromosomal abnormalities provide important prognostic information and are among the most important factors in predicting initial response to chemotherapy, duration of remission and overall survival.
This study analyzed chromosomal abnormalities in bone marrow aspirates of 50 children diagnosed with acute myeloid leuckemia (AML).
The culture success rate was 94%, clonal chromosomal abnormalities constituted 62% and recurrent chromosomal abnormalities were 56%. In the favorable prognostic category, there were 51.6% of cases with t(8;21)(q22;q22), 16.1% had t(15;17)(q22;q21), and a total of 12.9% had chromosome 16 rearrangement. The adverse risk category showed a low frequency of t(9;11)(p22;q13); t(1;22)(p13;q13); inv(3)( q21q26); add 4(q35) and ring chromosome. According to fluorescent in situ hybridization (FISH) results in 16 cytogenetically normal patients, there were no CBFβ/MYH11 fusion genes observed in chromosome 16 rearrangements.
Larger studies of this kind may provide more information about chromosome 16 rearrangements in cytogenetically normal patients. The present analysis suggests that both age and cytogenetics are important strategies for risk stratification (outcome). Additional laboratory parameters should also be considered in childhood AML.
目前的世界卫生组织血液系统恶性肿瘤分类基于存在反复出现的细胞遗传学异常，将髓系疾病定义为不同实体。诊断性克隆染色体异常提供了重要的预后信息，是预测化疗初始反应、缓解持续时间和总生存期的最重要因素之一。
本研究分析了 50 例急性髓系白血病（AML）患儿骨髓抽吸物中的染色体异常。
培养成功率为 94%，克隆染色体异常占 62%，反复出现的染色体异常占 56%。在预后良好的类别中，有 51.6%的病例存在 t(8;21)(q22;q22)，16.1%的病例存在 t(15;17)(q22;q21)，共有 12.9%的病例存在 16 号染色体重排。不良风险类别中 t(9;11)(p22;q13)、t(1;22)(p13;q13)、inv(3)(q21q26)、add4(q35)和环状染色体的发生率较低。根据 16 例细胞遗传学正常患者的荧光原位杂交（FISH）结果，在染色体 16 重排中未观察到 CBFβ/MYH11 融合基因。
此类更大规模的研究可能会提供更多关于细胞遗传学正常患者染色体 16 重排的信息。本分析表明，年龄和细胞遗传学都是风险分层（预后）的重要策略。在儿童 AML 中还应考虑其他实验室参数。
