Sugapriya D, Preethi S, Shanthi P, Chandra N, Jeyaraman G, Sachdanandam P, Thilagavathy S, Venkatadesilalu S
Department of Pathology, Dr. A. L. Mudaliar Post-graduate Institute of Basic Medical Sciences, University of Madras, Taramani Campus, Chennai, 600113 India.
Indian J Hematol Blood Transfus. 2012 Mar;28(1):37-41. doi: 10.1007/s12288-011-0096-9. Epub 2011 Jul 27.
Cytogenetics and polymerase chain reaction (PCR) based assays provide important information regarding biologically defined and prognostically relevant subgroups in acute leukemias. We utilized karyotyping and molecular analysis by reverse transcriptase PCR for the BCR-ABL translocation, in addition to morphological study, cytochemistry and immunophenotyping, to study 24 cases of pediatric acute lymphoblastic leukemia (ALL). Our objective was to determine the frequency of the BCRABL translocation in childhood ALL from southern India. Karyotyping showed one case of hyperdiploidy, one case of t (12; 21) translocation and one case of 46, XY-21+mar. The BCR-ABL translocation was found in 8.3% of these cases. One of these was a cryptic translocation, the karyotype being normal. BCR-ABL positivity in ALL is associated with aggressive disease and has been shown to be a poor prognostic factor, especially in children.
细胞遗传学和基于聚合酶链反应（PCR）的检测方法为急性白血病中生物学定义和预后相关亚组提供了重要信息。除形态学研究、细胞化学和免疫表型分析外，我们还利用核型分析和逆转录酶PCR对BCR-ABL易位进行分子分析，以研究24例儿童急性淋巴细胞白血病（ALL）。我们的目的是确定印度南部儿童ALL中BCR-ABL易位的频率。核型分析显示1例超二倍体、1例t（12；21）易位和1例46，XY-21+mar。这些病例中8.3%发现有BCR-ABL易位。其中1例为隐匿性易位，核型正常。ALL中BCR-ABL阳性与侵袭性疾病相关，并且已被证明是一个不良预后因素，尤其是在儿童中。
