title: Molecular genetics of B-precursor acute lymphoblastic leukemia.
abstract: B-precursor acute lymphoblastic leukemia (B-ALL) is the most common childhood tumor and the leading cause of cancer-related death in children and young adults. The majority of B-ALL cases are aneuploid or harbor recurring structural chromosomal rearrangements that are important initiating events in leukemogenesis but are insufficient to explain the biology and heterogeneity of disease. Recent studies have used microarrays and sequencing to comprehensively identify all somatic genetic alterations in acute lymphoblastic leukemia (ALL). These studies have identified cryptic or submicroscopic genetic alterations that define new ALL subtypes, cooperate with known chromosomal rearrangements, and influence prognosis. This article reviews these advances, discusses results from ongoing second-generation sequencing studies of ALL, and highlights challenges and opportunities for future genetic profiling approaches.
authors.affiliation: Department of Pathology, St. Jude Children’s Research Hospital, Memphis, Tennessee 38105, USA. charles.mullighan@stjude.org
authors.forename: Charles G
authors.initials: CG
authors.lastname: Mullighan
mesh_terms: D000328:Adult; D000818:Animals; D001402:B-Lymphocytes / Q000473:pathology; D019070:Cell Lineage; D002648:Child; D002999:Clone Cells / Q000473:pathology; D020869:Gene Expression Profiling; D020022:Genetic Predisposition to Disease; D006412:Hematopoietic Stem Cells / Q000473:pathology; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009363:Neoplasm Proteins / Q000235:genetics* / Q000502:physiology; D015514:Oncogene Proteins, Fusion / Q000235:genetics / Q000502:physiology; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000145:classification / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D011379:Prognosis; D012306:Risk; D014178:Translocation, Genetic
chemical_list: D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion