Chapter 21
Insights of Acute Lymphoblastic Leukemia
with Development of Genomic Investigation
Heng Xu and Yang Shu
Abstract
Treatment outcomes for acute lymphoblastic leukemia (ALL), especially pediatric ALL, have greatly
improved due to the risk-adapted therapy. Combination of drug development, clinical practice, as well as
basic genetic researches has brought the survival rate of ALL from less than 10% to more than 90% today,
not only increasing the treatment efficacy but also limiting adverse drug reactions (ADRs). In this review,
we summarized the landscape identification of ALL genetic alterations, which provided the opportunity to
increase the survival rate and especially minimize the relapse risk of ALL, and highlighted the importance of
the development of new technologies of genomic investigation for translational medicine.
KeywordsAcute lymphoblastic leukemia, Next-generation sequencing, Microarray, Single nucleo-
tide polymorphism, Mutation, Drug efficacy, Adverse drug reactions, Translational medicine, Geno-
mic landscape, Bioinformatics, Big data1 Introduction
Leukemia has been described in 1827 for the first time and recog-
nized as a distinct disease in 1845. Progress in description and
treatment outcome of leukemia continues to improve followed
with the development of new technologies and accumulation of
basic biological/medical knowledge. Acute leukemia is more com-
monly observed in children than adults, especially acute lympho-
blastic leukemia (ALL), which is the most common pediatric
malignancy and account for ~80% of all acute leukemia or ~30%
of all cancers in children [1–3]. Accordingly, around 6000 and over
100,000 new cases of ALL are diagnosed yearly in the USA and
worldwide, respectively [4]. ALL is now recognized as a molecular
genetic disorder and thus can be divided into more and more
subtypes in terms of morphologic, immune-phenotypic, and geno-
mic characteristics [5–8]. Importantly, current therapeutic regimen
determinations and the treatment outcomes are closely related to
the molecular subtype classifications, and 5-year event-free survivalTao Huang (ed.),Computational Systems Biology: Methods and Protocols, Methods in Molecular Biology, vol. 1754,
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