Settin A, Al Haggar M, Al Dosoky T, Al Baz R, Abdelrazik N, Fouda M, Aref S, Al-Tonbary Y
Genetic Unit, Mansoura University Children's Hospital, Mansoura, Egypt.
Indian J Pediatr. 2007 Mar;74(3):255-63. doi: 10.1007/s12098-007-0040-z.
To evaluate children with acute lymphoblastic leukemia (ALL) showing resistance to immediate induction chemotherapy in relation to conventional and advanced cytogenetic analysis.
This work was conducted on 63 ALL children (40 males and 23 females) with age range 4.5 months-16 years (mean = 7.76 years). They included 37 cases attained true remission and 26 complicated by failure of remission, early relapse or death. They were subjected to history, clinical examination and investigations including CBC, BM examination, karyotyping, FISH for translocations and flowcytometry for immunophenotyping and minimal residual disease diagnosis.
Cases aged 50.000/mm3 also showed better but non-significant remission rates. Most of the present cases were L2 with better remission compared to other immunophenotypes. Forty informative karyotypes were subdivided into 15 hypodiploid, 10 pseudodiploid, 8 normal diploid and 7 hyperdiploid cases; the best remission rates were noticed among the most frequent ploidy patterns. Chromosomes 9, 11 and 22 were the most frequently involved by structural aberrations followed by chromosomes 5, 12 and 17. Resistance was noted with aberrations not encountered among remission group; deletions involving chromosomes 2p, 3q, 10p and 12q; translocations involving chromosome 5; trisomies of chromosomes 16 and 21; monosomies of 5 and X and inversions of 5 and 11.
Some cytogenetic and molecular characterizations of childhood ALL could add prognostic criteria for proper therapy allocation.
评估急性淋巴细胞白血病（ALL）患儿对即刻诱导化疗的耐药情况，并进行传统和先进的细胞遗传学分析。
本研究对63例ALL患儿（40例男性，23例女性）进行，年龄范围为4.5个月至16岁（平均7.76岁）。其中37例达到完全缓解，26例出现缓解失败、早期复发或死亡。对患儿进行病史、临床检查及相关检查，包括血常规、骨髓检查、核型分析、用于检测易位的荧光原位杂交（FISH）以及用于免疫表型分析和微小残留病诊断的流式细胞术。
白细胞计数>50.000/mm³的病例缓解率也较好，但差异无统计学意义。大多数病例为L2型，与其他免疫表型相比缓解情况较好。40个有信息价值的核型分为15个亚二倍体、10个假二倍体、8个正常二倍体和7个超二倍体病例；在最常见的倍体模式中观察到最佳缓解率。9号、11号和22号染色体是最常发生结构畸变的染色体，其次是5号、12号和17号染色体。在缓解组未发现的畸变与耐药相关，包括涉及2p、3q、10p和12q染色体的缺失；涉及5号染色体的易位；16号和21号染色体的三体；5号和X染色体的单体以及5号和11号染色体的倒位。
儿童ALL的一些细胞遗传学和分子特征可为合理的治疗分配增加预后标准。
