Crist W M, Pui C H
Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Stem Cells. 1993 Mar;11(2):81-7. doi: 10.1002/stem.5530110202.
The prognosis for children with acute lymphoblastic leukemia (ALL) has improved steadily over the past 20 years. Today, at least two-thirds of newly diagnosed cases are curable with intensified risk-based therapy. The challenge now is to identify, prior to or early in treatment, the one-third of patients who are destined to relapse, so that alternative therapy can be introduced sooner. Cytogenetic studies of lymphoblasts have identified recurring abnormalities of prognostic importance and pinpointed chromosomal regions for molecular analyses. Recently, molecular diagnostic techniques have been developed for the more common cytogenetic subgroups of ALL, defined by the t(1;19) and t(9;22) chromosomal translocations (approximately 10% of cases). Polymerase chain reaction (PCR) techniques can identify these clinically important subgroups in the absence of successful cytogenetic studies. PCR analysis also provides a sensitive and specific tool for the detection of minimal residual disease during apparent (clinically defined) remission. Additionally, molecular studies of cases with specific cytogenetic lesions have helped to clarify the events leading to leukemic transformation of normal lymphoid cells. It is reasonable to expect that improved therapeutic strategies will emerge from findings made with molecular diagnostic and treatment monitoring techniques.
在过去20年里，急性淋巴细胞白血病（ALL）患儿的预后一直在稳步改善。如今，至少三分之二新诊断的病例通过强化的基于风险的治疗可以治愈。现在的挑战是在治疗前或治疗早期识别出注定会复发的三分之一患者，以便能更早地引入替代疗法。对淋巴母细胞的细胞遗传学研究已经确定了具有预后重要性的反复出现的异常情况，并确定了用于分子分析的染色体区域。最近，针对由t(1;19)和t(9;22)染色体易位定义的ALL更常见细胞遗传学亚组（约占病例的10%）开发了分子诊断技术。在细胞遗传学研究未成功的情况下，聚合酶链反应（PCR）技术可以识别这些具有临床重要性的亚组。PCR分析还为检测明显（临床定义）缓解期的微小残留病提供了一种灵敏且特异的工具。此外，对具有特定细胞遗传学病变病例的分子研究有助于阐明导致正常淋巴细胞发生白血病转化的事件。可以合理预期，分子诊断和治疗监测技术的研究结果将催生出更好的治疗策略。
