Prognostic Impact of Somatic Copy Number Alterations in Childhood B-Lineage Acute Lymphoblastic Leukemia
- PDF / 552,809 Bytes
- 11 Pages / 595.276 x 790.866 pts Page_size
- 57 Downloads / 199 Views
LEUKEMIA (A AGUAYO, SECTION EDITOR)
Prognostic Impact of Somatic Copy Number Alterations in Childhood B-Lineage Acute Lymphoblastic Leukemia Beatriz Rosales-Rodríguez 1,2 & Juan Carlos Núñez-Enríquez 3 & Juan Manuel Mejía-Aranguré 3,4 & Haydeé Rosas-Vargas 1 Accepted: 5 November 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose of Review The high prevalence of relapse in pediatric B-lineage acute lymphoblastic leukemia (B-ALL) despite the improvements achieved using current risk stratification schemes, demands more accurate methods for outcome prediction. Here, we provide a concise overview about the key advances that have expanded our knowledge regarding the somatic defects across B-ALL genomes, particularly focusing on copy number alterations (CNAs) and their prognostic impact. Recent Findings The identification of commonly altered genes in B-ALL has inspired the development of risk classifiers based on copy number states such as the IKZF1plus and the United Kingdom (UK) ALL-CNA classifiers to improve outcome prediction in B-ALL. Summary CNA-risk classifiers have emerged as effective tools to predict disease relapse; though, their clinical applications are yet to be transferred to routine practice. Keywords Pediatric leukemia . B-ALL . Risk stratification . Copy number alterations
Introduction Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed at pediatric age (0–14 years) around the globe [1]. Typically, it is categorized by the cell lineage (B progenitor or T cell), whose cellular surface markers are This article is part of the Topical Collection on Leukemia * Juan Manuel Mejía-Aranguré [email protected] * Haydeé Rosas-Vargas [email protected] 1
Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, 06720 Ciudad de México, Mexico
2
Programa de Doctorado, Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de México, 04510 Ciudad de México, Mexico
3
Unidad de Investigación Médica en Epidemiología Clínica, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, 06720 Ciudad de México, Mexico
4
Coordinación de Investigación en Salud, IMSS, Torre Academia Nacional de Medicina, 06720 Ciudad de México, Mexico
expressed differentially and contain a varied repertoire of numerical and structural chromosomal alterations. Six subtypes of diseases delineated by aneuploidies and fusion transcripts that are products of recurrent chromosomal translocations have been incorporated into the 2016 revision of the World Health Organization’s classification of B progenitor ALL (BALL) [2]. Accordingly, high hyperdiploidy (> 50 chromosomes), hypodiploidy (< 44 chromosomes), the t(12;21)(p13;q22)/ETV6-RUNX1, t(1;19)(q23;p13.3)/TCF3PBX1, t(9;22)(q34;q11)/BCR-ABL1, and 11q23 translocations that cause rearrangements of the MLL gene, enable specialists to classify patients into prognostically different B-ALL subgroups [3]. These informative cytogenetic data, in combination with clinical f
Data Loading...
