Chinnappan D, Verma I C, Choudhry V P, Arya L S
Center for Human Genetics, University School of Medicine, Boston, MA 02118, USA.
Indian J Pediatr. 2000 Feb;67(2):107-12. doi: 10.1007/BF02726178.
Cytogenetics investigations, mostly from peripheral blood, were carried out in 30 children with CML. Amongst a sample of 30 patients, 18 had chronic myeloid leukemia of adult variety (ACML), while the remaining 12 children had the juvenile type of chronic myeloid leukemia (JCML). Sixteen (88.9%) out of the 18 patients suffering from ACML tested positive for the classical Philadelphia chromosome translocation t(9; 22). Of the remaining two ACML patients, one tested positive for t(9; 13; 22) while no visible chromosomal changes were observed in the other patient. The activity of Nucleolar Organizer Region (NOR) was significantly reduced in 11 (61.1%) of the 18 patients suffering from ACML, when compared to that of 21 normal healthy controls. Ten out of the 12 patients suffering from JCML had normal karyotypes, while monosomy 8 and 21 q deletion were seen in the remaining two patients respectively. Amongst the 30 CML patients, chromosomal abnormalities were observed in 19 patients. Variant Philadelphia chromosome translocation (9; 13; 22) and monosomy B were observed in ACML and JCML, respectively. In two ACML patients, cytogenetic studies were helpful in diagnosis of the disease.
对30例慢性粒细胞白血病患儿进行了细胞遗传学研究,大多取材于外周血。在30例患者样本中,18例患有成人型慢性粒细胞白血病(ACML),其余12例患儿患有幼年型慢性粒细胞白血病(JCML)。18例ACML患者中有16例(88.9%)检测到典型的费城染色体易位t(9; 22)呈阳性。其余2例ACML患者中,1例t(9; 13; 22)检测呈阳性,另1例未观察到可见的染色体变化。与21名正常健康对照相比,18例ACML患者中有11例(61.1%)的核仁组织区(NOR)活性显著降低。12例JCML患者中有10例核型正常,其余2例分别观察到8号染色体单体和21号染色体长臂缺失。在30例慢性粒细胞白血病患者中,19例观察到染色体异常。分别在ACML和JCML中观察到变异的费城染色体易位(9; 13; 22)和B染色体单体。在2例ACML患者中,细胞遗传学研究有助于疾病的诊断。