University Research Institute for the Study and Treatment of Childhood Genetic and Malignant Diseases, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
Clin Lymphoma Myeloma Leuk. 2012 Aug;12(4):230-7. doi: 10.1016/j.clml.2012.04.004. Epub 2012 May 19.
Pediatric acute leukemias are generally characterized by recurrent numerical and structural chromosomal abnormalities, which are thought to be specifically associated with diagnosis and prognosis of both childhood acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). The identification of those chromosomal aberrations is clinically important because they are considered significant risk-stratifying markers. However there have been several instances in which they remain undetectable, possibly due to the low resolution of most genetic screening tools used. In the present review, the clinical significance of most chromosomal aberrations associated with pediatric ALL and AML as well as the current technology used for their identification is discussed.
儿科急性白血病的特征通常是反复出现的数值和结构染色体异常,这些异常被认为与儿童急性淋巴细胞白血病(ALL)和急性髓细胞白血病(AML)的诊断和预后都有特定的关联。这些染色体异常的识别在临床上很重要,因为它们被认为是重要的风险分层标志物。然而,也有一些情况下这些异常无法被检测到,可能是因为大多数使用的遗传筛选工具的分辨率较低。在本综述中,讨论了与儿科 ALL 和 AML 相关的大多数染色体异常的临床意义,以及用于识别这些异常的当前技术。