Shaikh Muhammad Shariq, Adil Salman Naseem, Shaikh Mohammad Usman, Khurshid Mohammad
Department of Pathology and Microbiology, The Aga Khan University Hospital, Pakistan E-mail :
Asian Pac J Cancer Prev. 2014;15(21):9495-8. doi: 10.7314/apjcp.2014.15.21.9495.
The difference in prognosis of adult and childhood acute lymphoblastic leukemia (ALL) can be attributed largely to variation in cytogenetic abnormalities with age groups. Cytogenetic analysis in acute leukemia is now routinely used to assist patient management, particularly in terms of diagnosis, disease monitoring, prognosis and risk stratification. Knowing about cytogenetic profile at the time of diagnosis is important in order to take critical decisions in management of the patients.
To determine the frequency of cytogenetic abnormalities in Pakistani adult patients with ALL in order to have insights regarding behavior of the disease.
A retrospective analysis of all the cases of ALL (≥15years old) diagnosed at Aga Khan University from January 2006 to June 2014 was performed. Phenotype (B/T lineage) was confirmed in all cases by flow cytometry. Cytogenetic analysis was made for all cases using the trypsin-Giemsa banding technique. Karyotypes were interpreted using the International System for Human Cytogenetic Nomenclature (ISCN) criteria.
A total of 166 patients were diagnosed as ALL during the study period, of which 151 samples successfully yielded metaphase chromosomes. The male to female ratio was 3.4:1. The majority (n=120, 72.3%) had a B-cell phenotype. A normal karyotype was present in 51% (n=77) of the cases whereas 49% (n=74) had an abnormal karyotype. Of the abnormal cases, 10% showed Philadelphia chromosome; t(9;22)(q34;q11.2). Other poor prognostic cytogenetic subgroups were t(4;11)(q21;q23), hypodiploidy (35-45 chromosomes) and complex karyotype. Hyperdiploidy (47-57 chromosomes) occurred in 6.6%; all of whom were younger than 30 years.
This study showed a relatively low prevalence of Philadelphia chromosome in Pakistani adults with ALL with an increase in frequency with age (p=0.003). The cumulative prevalence of Philadelphia- negative poor cytogenetic aberrations in different age groups was not significant (p=0.6).
成人和儿童急性淋巴细胞白血病（ALL）预后的差异很大程度上可归因于不同年龄组细胞遗传学异常的差异。急性白血病的细胞遗传学分析现在常规用于辅助患者管理，特别是在诊断、疾病监测、预后和风险分层方面。了解诊断时的细胞遗传学特征对于在患者管理中做出关键决策很重要。
确定巴基斯坦成年ALL患者细胞遗传学异常的频率，以便深入了解该疾病的特征。
对2006年1月至2014年6月在阿迦汗大学诊断的所有ALL病例（≥15岁）进行回顾性分析。所有病例均通过流式细胞术确认表型（B/T谱系）。所有病例均采用胰蛋白酶-吉姆萨显带技术进行细胞遗传学分析。核型按照国际人类细胞遗传学命名系统（ISCN）标准进行解读。
研究期间共诊断出166例ALL患者，其中151份样本成功获得中期染色体。男女比例为3.4:1。大多数（n = 120，72.3%）具有B细胞表型。51%（n = 77）的病例核型正常，而49%（n = 74）的病例核型异常。在异常病例中，10%显示费城染色体；t(9;22)(q34;q11.2)。其他预后不良的细胞遗传学亚组包括t(4;11)(q21;q23)、亚二倍体（35 - 45条染色体）和复杂核型。超二倍体（47 - 57条染色体）发生率为6.6%；所有超二倍体患者年龄均小于30岁。
本研究显示巴基斯坦成年ALL患者中费城染色体的发生率相对较低，且随年龄增加频率升高（p = 0.003）。不同年龄组费城染色体阴性的预后不良细胞遗传学畸变的累积发生率无显著差异（p = 0.6）。
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